diff --git a/OT_SCHEMA_VERSION b/OT_SCHEMA_VERSION index 9183195a..322224fe 100644 --- a/OT_SCHEMA_VERSION +++ b/OT_SCHEMA_VERSION @@ -1 +1 @@ -2.4.0 \ No newline at end of file +022fabb \ No newline at end of file diff --git a/bin/trait_mapping/create_table_for_manual_curation.py b/bin/trait_mapping/create_table_for_manual_curation.py index 03216c32..7e70dc8e 100755 --- a/bin/trait_mapping/create_table_for_manual_curation.py +++ b/bin/trait_mapping/create_table_for_manual_curation.py @@ -14,8 +14,7 @@ def previous_and_replacement_mappings(trait_name, previous_mappings): if trait_name not in previous_mappings: yield '', '' return - for uri in previous_mappings[trait_name]: - label = get_ontology_label(uri) + for uri, label in previous_mappings[trait_name]: trait_status = get_trait_status(uri) trait_string = '|'.join([uri, label, 'NOT_SPECIFIED', 'previously-used', trait_status]) replacement_string = find_replacement_mapping(uri) diff --git a/cmat/clinvar_xml_io/clinvar_record.py b/cmat/clinvar_xml_io/clinvar_record.py index 1a4f19ad..2ab37009 100644 --- a/cmat/clinvar_xml_io/clinvar_record.py +++ b/cmat/clinvar_xml_io/clinvar_record.py @@ -75,6 +75,11 @@ def date(self): """This tracks the latest update date, counting even minor technical updates.""" return self.rcv.attrib['DateLastUpdated'] + @property + def created_date(self): + """This tracks the date the record was first made public on ClinVar.""" + return self.rcv.attrib['DateCreated'] + @property def last_evaluated_date(self): """This tracks the latest (re)evaluation date for the clinical interpretation. diff --git a/cmat/output_generation/clinvar_to_evidence_strings.py b/cmat/output_generation/clinvar_to_evidence_strings.py index 94e980ff..8b9dc15b 100644 --- a/cmat/output_generation/clinvar_to_evidence_strings.py +++ b/cmat/output_generation/clinvar_to_evidence_strings.py @@ -206,6 +206,15 @@ def clinvar_to_evidence_strings(string_to_efo_mappings, variant_to_gene_mappings return report +def format_creation_date(s): + if not s: + return None + m = re.search('\d{4}-\d{2}-\d{2}', s) + if m and m.group(0): + return m.group(0) + return None + + def generate_evidence_string(clinvar_record, allele_origins, disease_name, disease_source_id, disease_mapped_efo_id, consequence_attributes): """Generates an evidence string based on ClinVar record and some additional attributes.""" @@ -235,6 +244,9 @@ def generate_evidence_string(clinvar_record, allele_origins, disease_name, disea # RCV identifier. 'studyId': clinvar_record.accession, + # Record creation date, formatted as YYYY-MM-DD + 'releaseDate': format_creation_date(clinvar_record.created_date), + # VARIANT ATTRIBUTES. 'targetFromSourceId': consequence_attributes.ensembl_gene_id, 'variantFunctionalConsequenceId': consequence_attributes.so_term.accession, diff --git a/data-exploration/filter_clinvar_xml.py b/data-exploration/filter_clinvar_xml.py index 95927d7d..ef281871 100644 --- a/data-exploration/filter_clinvar_xml.py +++ b/data-exploration/filter_clinvar_xml.py @@ -3,10 +3,10 @@ import logging import xml.etree.ElementTree as ElementTree -from eva_cttv_pipeline.clinvar_xml_io.clinvar_xml_io import ClinVarRecord, find_mandatory_unique_element -from eva_cttv_pipeline.evidence_string_generation.clinvar_to_evidence_strings import get_consequence_types -from eva_cttv_pipeline.evidence_string_generation.consequence_type import process_consequence_type_file - +from cmat.clinvar_xml_io import ClinVarRecord +from cmat.clinvar_xml_io.xml_parsing import find_mandatory_unique_element +from cmat.output_generation.clinvar_to_evidence_strings import get_consequence_types +from cmat.output_generation.consequence_type import process_consequence_type_file logging.basicConfig() logger = logging.getLogger(__name__) diff --git a/tests/output_generation/resources/end2end/expected/evidence_strings.json b/tests/output_generation/resources/end2end/expected/evidence_strings.json index bce93c99..91a28d5a 100644 --- a/tests/output_generation/resources/end2end/expected/evidence_strings.json +++ b/tests/output_generation/resources/end2end/expected/evidence_strings.json @@ -1,1130 +1,1130 @@ -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["3170546"], "studyId": "RCV000000176", "targetFromSourceId": "ENSG00000065154", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_124405545_C_G", "variantRsId": "rs121965040", "cohortPhenotypes": ["Girate atrophy of the retina", "Gyrate atrophy", "Gyrate atrophy of choroid and retina", "Hyperornithinemia with gyrate atrophy of choroid and retina", "OAT deficiency", "OKT deficiency", "Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency"], "diseaseFromSource": "Ornithine aminotransferase deficiency", "diseaseFromSourceId": "C0018425", "diseaseFromSourceMappedId": "Orphanet_414", "variantHgvsId": "NC_000010.11:g.124405545C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["18176953"], "studyId": "RCV000000912", "targetFromSourceId": "ENSG00000120942", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_11285822_C_G", "variantRsId": "rs118203953", "cohortPhenotypes": ["Corneal dystrophy crystalline of Schnyder", "Crystalline corneal dystrophy", "Schnyder corneal dystrophy", "Schnyder crystalline corneal dystrophy"], "diseaseFromSource": "Schnyder crystalline corneal dystrophy", "diseaseFromSourceId": "C0271287", "diseaseFromSourceMappedId": "MONDO_0007374", "variantHgvsId": "NC_000001.11:g.11285822C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "MONDO_0009662", "variantHgvsId": "NC_000007.14:g.65964382C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "Orphanet_584", "variantHgvsId": "NC_000007.14:g.65964382C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "Orphanet_276234", "variantHgvsId": "NC_000011.10:g.66025841dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "MONDO_0017173", "variantHgvsId": "NC_000011.10:g.66025841dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11468277", "12529855"], "studyId": "RCV000005133", "targetFromSourceId": "ENSG00000183770", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "3_138945918_C_CG", "variantRsId": "rs797044528", "cohortPhenotypes": ["BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "BPES I", "BPES type 1", "BPES with ovarian failure", "BPES with premature ovarian failure", "Blepharophimosis syndrome type 1", "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "Blepharophimosis, ptosis, epicanthus inversus type 1", "Blepharophimosis, ptosis, epicanthus inversus with ovarian failure"], "diseaseFromSource": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "diseaseFromSourceId": "C2931135", "diseaseFromSourceMappedId": "Orphanet_126", "variantHgvsId": "NC_000003.12:g.138945919dupG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "Orphanet_411602", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "MONDO_0005180", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["10208170", "11445641", "1605193", "1675488", "9719368"], "studyId": "RCV000010653", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["FMR1-Related Primary Ovarian Insufficiency", "Fragile x premature ovarian failure", "HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED", "PREMATURE OVARIAN FAILURE, X-LINKED", "Premature ovarian failure 1", "Primary ovarian insufficiency, fragile X-associated"], "diseaseFromSource": "Premature ovarian failure 1", "diseaseFromSourceId": "C4552079", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NM_002024.6:c.-128GGM[55_?]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11781684"], "studyId": "RCV000014778", "targetFromSourceId": "ENSG00000198807", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "14_36663232_A_T", "variantRsId": "rs104894467", "cohortPhenotypes": ["HYPODONTIA/OLIGODONTIA 3", "Tooth agenesis, selective, 3"], "diseaseFromSource": "Tooth agenesis, selective, 3", "diseaseFromSourceId": "C1970291", "diseaseFromSourceMappedId": "EFO_0005410", "variantHgvsId": "NC_000014.9:g.36663232A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "literature": ["8381387"], "studyId": "RCV000017358", "targetFromSourceId": "ENSG00000145321", "variantFunctionalConsequenceId": "SO_0002162", "cohortPhenotypes": ["GC1/GC2 POLYMORPHISM"], "diseaseFromSource": "GC1/GC2 POLYMORPHISM", "variantHgvsId": "NG_012837.2:g.55347TAAA[(6_10)]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["1429602"], "studyId": "RCV000018903", "targetFromSourceId": "ENSG00000139219", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_47977607_C_T", "variantRsId": "rs121912868", "cohortPhenotypes": ["Hypochondrogenesis"], "diseaseFromSource": "Hypochondrogenesis", "diseaseFromSourceId": "C0542428", "diseaseFromSourceMappedId": "MONDO_0019669", "variantHgvsId": "NC_000012.12:g.47977607C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000020640", "targetFromSourceId": "ENSG00000140092", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Cutis laxa, autosomal dominant 1"], "diseaseFromSource": "Cutis laxa, autosomal dominant 1", "diseaseFromSourceId": "C3276539", "diseaseFromSourceMappedId": "MONDO_0019571", "variantHgvsId": "NC_000014.9:g.91881408_91904133dup"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000022242", "targetFromSourceId": "ENSG00000213930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_34649462_C_T", "variantRsId": "rs111033792", "cohortPhenotypes": ["Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY", "GALACTOSEMIA I", "GALT deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia, classic", "Transferase Deficiency Galactosemia"], "diseaseFromSource": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "diseaseFromSourceId": "C0268151", "diseaseFromSourceMappedId": "MONDO_0009258", "variantHgvsId": "NC_000009.12:g.34649462C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22405089"], "studyId": "RCV000024211", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "6_157198835_T_A", "variantRsId": "rs748363079", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.157198835T>A"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000049563", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3254202_G_T", "variantRsId": "rs104895132", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254202G>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000050105", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_99817707_AC_A", "variantRsId": "rs386834111", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99817708del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "MONDO_0010986", "variantHgvsId": "NC_000002.12:g.26480990del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000002.12:g.26480990del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000083836", "targetFromSourceId": "ENSG00000110921", "variantFunctionalConsequenceId": "SO_0001578", "variantRsId": "rs104895310", "cohortPhenotypes": ["Hyperimmunoglobulin D with periodic fever", "Hyperimmunoglobulinemia D", "Hyperimmunoglobulinemia D and periodic fever syndrome", "Hyperimmunoglobulinemia D with periodic fever", "Periodic fever Dutch type"], "diseaseFromSource": "Hyperimmunoglobulin D with periodic fever", "diseaseFromSourceId": "C0398691", "diseaseFromSourceMappedId": "MONDO_0009849", "variantHgvsId": "NC_000012.12:g.109581396_109581551del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000087449", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188999367_G_A", "variantRsId": "rs587779512", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188999367G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161150", "targetFromSourceId": "ENSG00000008128", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Normal pregnancy"], "diseaseFromSource": "Normal pregnancy", "diseaseFromSourceId": "C0232989", "diseaseFromSourceMappedId": "EFO_0002950", "variantHgvsId": "NC_000001.11:g.1696548_1732685del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161163", "targetFromSourceId": "ENSG00000186094", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", 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["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000201338", "targetFromSourceId": "ENSG00000181143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_8950404_G_A", "variantRsId": "rs78804712", "cohortPhenotypes": ["Abnormality of neuronal migration"], "diseaseFromSource": "Abnormality of neuronal migration", "diseaseFromSourceId": "C1837249", "diseaseFromSourceMappedId": "HP_0002269", "variantHgvsId": "NC_000019.10:g.8950404G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000202520", "targetFromSourceId": "ENSG00000143147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_168104855_A_T", "variantRsId": "rs200635937", "cohortPhenotypes": ["Pituitary stalk interruption syndrome"], "diseaseFromSource": "Pituitary stalk interruption syndrome", "diseaseFromSourceId": "C4053775", "diseaseFromSourceMappedId": "MONDO_0019828", "variantHgvsId": "NC_000001.11:g.168104855A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203486", "targetFromSourceId": "ENSG00000152683", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32147746_32173488del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203488", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32113664_32125322del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017781", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017782", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000224048", "targetFromSourceId": "ENSG00000105607", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_12897345_G_A", "variantRsId": "rs878853156", "cohortPhenotypes": ["GA I", "Glutaric acidemia type I", "Glutaric aciduria, type 1", "Glutaricacidemia Type 1", "Glutaricaciduria, type I", "Glutaryl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Glutaric aciduria, type 1", "diseaseFromSourceId": "C0268595", "diseaseFromSourceMappedId": "MONDO_0009281", "variantHgvsId": "NC_000019.10:g.12897345G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225267", "targetFromSourceId": "ENSG00000196620", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000004.12:g.68626601_68646936del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225340", "targetFromSourceId": "ENSG00000178075", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000003.12:g.113857357_113901499del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225526", "targetFromSourceId": "ENSG00000021645", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism spectrum disorder", "Autism spectrum disorders", "Autism susceptibility"], "diseaseFromSource": "Autism spectrum disorder", "diseaseFromSourceId": "C1510586", "diseaseFromSourceMappedId": "EFO_0003756", "variantHgvsId": "NC_000014.9:g.78581479_79053758del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000230056", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31225257_T_C", "variantRsId": "rs878853870", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31225257T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["26138117"], "studyId": "RCV000235009", "targetFromSourceId": "ENSG00000103657", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_63734745_C_T", "variantRsId": "rs879253786", "cohortPhenotypes": ["Macrocephaly, dysmorphic facies, and psychomotor retardation"], "diseaseFromSource": "Macrocephaly, dysmorphic facies, and psychomotor retardation", "diseaseFromSourceId": "C4310766", "diseaseFromSourceMappedId": "MONDO_0014863", "variantHgvsId": "NC_000015.10:g.63734745C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000248743", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178779324_C_T", "variantRsId": "rs748755381", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.178779324C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000250222", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188994044_C_T", "variantRsId": "rs757192342", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.188994044C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000259393", "targetFromSourceId": "ENSG00000105641", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "19_17872267_C_T", "variantRsId": "rs886054281", "cohortPhenotypes": ["Familial thyroid dyshormonogenesis 1", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1", "IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1", "Thyroid dyshormonogenesis 1"], "diseaseFromSource": "Familial thyroid dyshormonogenesis 1", "diseaseFromSourceId": "C1848805", "diseaseFromSourceMappedId": "Orphanet_95716", "variantHgvsId": "NC_000019.10:g.17872267C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260368", "targetFromSourceId": "ENSG00000052850", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_44275556_G_A", "variantRsId": "rs143620051", "cohortPhenotypes": ["Parietal foramina 2"], "diseaseFromSource": "Parietal foramina 2", "diseaseFromSourceId": "C1865044", "diseaseFromSourceMappedId": "MONDO_0018953", "variantHgvsId": "NC_000011.10:g.44275556G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000269816", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_40807393_T_C", "variantRsId": "rs374352017", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40807393T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "MONDO_0013111", "variantHgvsId": "NC_000022.11:g.46355522C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "Orphanet_217371", "variantHgvsId": "NC_000022.11:g.46355522C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273957", "targetFromSourceId": "ENSG00000133063", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_203225876_C_T", "variantRsId": "rs190551025", "cohortPhenotypes": ["Chitotriosidase deficiency"], "diseaseFromSource": "Chitotriosidase deficiency", "diseaseFromSourceId": "C3279902", "diseaseFromSourceMappedId": "MONDO_0013586", "variantHgvsId": "NC_000001.11:g.203225876C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "Orphanet_333", "variantHgvsId": "NC_000008.11:g.18056848A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "MONDO_0009218", "variantHgvsId": "NC_000008.11:g.18056848A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000275192", "targetFromSourceId": "ENSG00000167792", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67609491_G_A", "variantRsId": "rs140445386", "cohortPhenotypes": ["MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF", "Mitochondrial complex I deficiency, nuclear type 1", "NADH-COENZYME Q REDUCTASE DEFICIENCY"], "diseaseFromSource": "Mitochondrial complex I deficiency, nuclear type 1", "diseaseFromSourceId": "CN257533", "diseaseFromSourceMappedId": "MONDO_0100133", "variantHgvsId": "NC_000011.10:g.67609491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276090", "targetFromSourceId": "ENSG00000214960", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_16091274_A_G", "variantRsId": "rs886062164", "cohortPhenotypes": ["Congenital Muscular Dystrophy, alpha-dystroglycan related"], "diseaseFromSource": "Congenital Muscular Dystrophy, alpha-dystroglycan related", "diseaseFromSourceId": "CN239202", "variantHgvsId": "NC_000007.14:g.16091274A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000278645", "targetFromSourceId": "ENSG00000155850", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_149982709_A_G", "variantRsId": "rs886060230", "cohortPhenotypes": ["Multiple epiphyseal dysplasia type 4", "Multiple epiphyseal dysplasia with bilayered patellae", "Multiple epiphyseal dysplasia with clubfoot", "Multiple epiphyseal dysplasia with double-layered patella", "Multiple epiphyseal dysplasia, autosomal recessive"], "diseaseFromSource": "Multiple epiphyseal dysplasia type 4", "diseaseFromSourceId": "C1847593", "diseaseFromSourceMappedId": "MONDO_0009189", "variantHgvsId": "NC_000005.10:g.149982709A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000280743", "targetFromSourceId": "ENSG00000137869", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_51209789_G_A", "variantRsId": "rs886051274", "cohortPhenotypes": ["Aromatase deficiency", "Increased aromatase activity", "Pseudohermaphroditism, female, due to placental aromatase deficiency"], "diseaseFromSource": "Aromatase deficiency", "diseaseFromSourceId": "C1960539", "diseaseFromSourceMappedId": "MONDO_0013301", "variantHgvsId": "NC_000015.10:g.51209789G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "MONDO_0009661", "variantHgvsId": "NC_000005.10:g.78779779G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "Orphanet_79213", "variantHgvsId": "NC_000005.10:g.78779779G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000296044", "targetFromSourceId": "ENSG00000145476", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_186212608_C_T", "variantRsId": "rs886059294", "cohortPhenotypes": ["Corneal Dystrophy, Recessive"], "diseaseFromSource": "Corneal Dystrophy, Recessive", "diseaseFromSourceId": "CN239343", "variantHgvsId": "NC_000004.12:g.186212608C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000308394", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_166196010_C_T", "variantRsId": "rs149873320", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166196010C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967999C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000329537", "targetFromSourceId": "ENSG00000081923", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57706547_G_T", "variantRsId": "rs145214384", "cohortPhenotypes": ["Byler disease", "Byler's disease", "Progressive familial intrahepatic cholestasis type 1"], "diseaseFromSource": "Progressive familial intrahepatic cholestasis type 1", "diseaseFromSourceId": "C4551898", "diseaseFromSourceMappedId": "MONDO_0008892", "variantHgvsId": "NC_000018.10:g.57706547G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337687", "targetFromSourceId": "ENSG00000166415", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_53515041_G_GTATATATATGTGTGTATATATATACACACATATATATGTGTA", "variantRsId": "rs1555402394", "cohortPhenotypes": ["Amelogenesis Imperfecta, Recessive"], "diseaseFromSource": "Amelogenesis Imperfecta, Recessive", "diseaseFromSourceId": "CN239209", "variantHgvsId": "NC_000015.10:g.53515042_53515080TA[4]TG[3]TA[5]CA[3]TA[3]TG[2]TA[5]TG[3]TA[5]CA[3]TA[3]TGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "MONDO_0008270", "variantHgvsId": "NC_000007.14:g.156682634A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "Orphanet_294939", "variantHgvsId": "NC_000007.14:g.156682634A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339505", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_31547162_G_T", "variantRsId": "rs552933757", "cohortPhenotypes": ["Dilated Cardiomyopathy, Dominant"], "diseaseFromSource": "Dilated Cardiomyopathy, Dominant", "diseaseFromSourceId": "CN239310", "diseaseFromSourceMappedId": "EFO_0009142", "variantHgvsId": "NC_000018.10:g.31547162G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000340578", "targetFromSourceId": "ENSG00000124299", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_33387291_G_A", "variantRsId": "rs77690463", "cohortPhenotypes": ["Prolidase deficiency"], "diseaseFromSource": "Prolidase deficiency", "diseaseFromSourceId": "C0268532", "diseaseFromSourceMappedId": "MONDO_0008221", "variantHgvsId": "NC_000019.10:g.33387291G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000343150", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "13_40809884_G_A", "variantRsId": "rs886050241", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40809884G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000345155", "targetFromSourceId": "ENSG00000135517", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_56454516_C_T", "variantRsId": "rs139963297", "cohortPhenotypes": ["CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES", "Cataract 15 multiple types"], "diseaseFromSource": "Cataract 15 multiple types", "diseaseFromSourceId": "C3809001", "variantHgvsId": "NC_000012.12:g.56454516C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000009.12:g.99153772C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000009.12:g.99153772C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000350350", "targetFromSourceId": "ENSG00000148606", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_77976135_CT_C", "variantRsId": "rs56144624", "cohortPhenotypes": ["Pol III-Related Leukodystrophies", "Pol III-related leukodystrophy"], "diseaseFromSource": "Pol III-related leukodystrophy", "diseaseFromSourceId": "CN168056", "diseaseFromSourceMappedId": "Orphanet_289494", "variantHgvsId": "NC_000010.11:g.77976147del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "Orphanet_66628", "variantHgvsId": "NC_000007.14:g.128255185G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "MONDO_0013991", "variantHgvsId": "NC_000007.14:g.128255185G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353472", "targetFromSourceId": "ENSG00000196236", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "22_40927070_C_T", "variantRsId": "rs886057511", "cohortPhenotypes": ["Nephronophthisis-like nephropathy 1"], "diseaseFromSource": "Nephronophthisis-like nephropathy 1", "diseaseFromSourceId": "C3150419", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000022.11:g.40927070C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000361861", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_36216327_A_ATGTGTGTGTGTGTGTGTG", "variantRsId": "rs10527967", "cohortPhenotypes": ["Inclusion Body Myopathy, Recessive"], "diseaseFromSource": "Inclusion Body Myopathy, Recessive", "diseaseFromSourceId": "CN239230", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36216329GT[22]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000370803", "targetFromSourceId": "ENSG00000138738", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "4_120785105_A_G", "variantRsId": "rs375296023", "cohortPhenotypes": ["Brittle cornea syndrome 2"], "diseaseFromSource": "Brittle cornea syndrome 2", "diseaseFromSourceId": "C3280011", "diseaseFromSourceMappedId": "MONDO_0009242", "variantHgvsId": "NC_000004.12:g.120785105A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000373515", "targetFromSourceId": "ENSG00000213281", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_114705630_T_C", "variantRsId": "rs140878667", "cohortPhenotypes": ["NRAS gene related Noonan syndrome", "Noonan syndrome 6"], "diseaseFromSource": "Noonan syndrome 6", "diseaseFromSourceId": "C2750732", "diseaseFromSourceMappedId": "MONDO_0018997", "variantHgvsId": "NC_000001.11:g.114705630T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000376102", "targetFromSourceId": "ENSG00000174804", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "11_86955347_G_A", "variantRsId": "rs568903306", "cohortPhenotypes": ["Criswick-Schepens syndrome", "Exudative vitreoretinopathy 1", "FEVR, AUTOSOMAL DOMINANT", "Familial exudative vitreoretinopathy, autosomal dominant"], "diseaseFromSource": "Exudative vitreoretinopathy 1", "diseaseFromSourceId": "C1851402", "diseaseFromSourceMappedId": "Orphanet_891", "variantHgvsId": "NC_000011.10:g.86955347G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000382958", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "18_51084012_G_GCACACACACACACA", "variantRsId": "rs56017493", "cohortPhenotypes": ["Juvenile Polyposis"], "diseaseFromSource": "Juvenile Polyposis", "diseaseFromSourceId": "CN239474", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51084013CA[23]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "MONDO_0009615", "variantHgvsId": "NC_000002.12:g.71124216A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "Orphanet_308425", "variantHgvsId": "NC_000002.12:g.71124216A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000392856", "targetFromSourceId": "ENSG00000197102", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_102034137_T_C", "variantRsId": "rs763119040", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", "Charcot-Marie-Tooth Neuropathy Type 2O", "Charcot-Marie-Tooth disease axonal type 2O", "Charcot-Marie-Tooth disease, axonal, type 20"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2O", "diseaseFromSourceId": "C3280220", "diseaseFromSourceMappedId": "MONDO_0013644", "variantHgvsId": "NC_000014.9:g.102034137T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000402145", "targetFromSourceId": "ENSG00000034693", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "6_143450846_T_C", "variantRsId": "rs184934783", "cohortPhenotypes": ["Peroxisome biogenesis disorder 10A", "Peroxisome biogenesis disorder 10A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 10A (Zellweger)", "diseaseFromSourceId": "C3553999", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000006.12:g.143450846T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000405770", "targetFromSourceId": "ENSG00000091622", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6453135_C_T", "variantRsId": "rs28593105", "cohortPhenotypes": ["Cone-rod dystrophy 5"], "diseaseFromSource": "Cone-rod dystrophy 5", "diseaseFromSourceId": "C1832976", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000017.11:g.6453135C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000407201", "targetFromSourceId": "ENSG00000100299", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "22_50628124_C_G", "variantRsId": "rs6151406", "cohortPhenotypes": ["Arylsulfatase A Deficiency", "Cerebral sclerosis diffuse metachromatic form", "Cerebroside sulfatase deficiency", "Metachromatic leukodystrophy", "Metachromatic leukoencephalopathy", "Sulfatide lipidosis"], "diseaseFromSource": "Metachromatic leukodystrophy", "diseaseFromSourceId": "C0023522", "diseaseFromSourceMappedId": "MONDO_0018868", "variantHgvsId": "NC_000022.11:g.50628124C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000411534", "targetFromSourceId": "ENSG00000072778", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_7224245_T_C", "variantRsId": "rs111851815", "cohortPhenotypes": ["VLCAD deficiency", "Very long chain acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Very long chain acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3887523", "diseaseFromSourceMappedId": "MONDO_0008723", "variantHgvsId": "NC_000017.11:g.7224245T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468502", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_31226668_C_T", "variantRsId": "rs1060503901", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31226668C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477503", "targetFromSourceId": "ENSG00000182389", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_151839269_C_T", "variantRsId": "rs1805029", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000002.12:g.151839269C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000490601", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1", "Colorectal cancer, hereditary, nonpolyposis, type 1", "Hereditary non-polyposis colorectal cancer, type 1", "Lynch syndrome 1", "Lynch syndrome I", "MSH2-Related Hereditary Non-Polyposis Colon Cancer", "MSH2-Related Lynch Syndrome"], "diseaseFromSource": "Lynch syndrome 1", "diseaseFromSourceId": "C2936783", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000002.12:g.47439264_47450433del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000499352", "targetFromSourceId": "ENSG00000091262", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gronblad Strandberg syndrome", "Pseudoxanthoma elasticum"], "diseaseFromSource": "Pseudoxanthoma elasticum", "diseaseFromSourceId": "C0033847", "diseaseFromSourceMappedId": "Orphanet_758", "variantHgvsId": "NC_000016.10:g.16151250_16167657del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["X-linked inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000505480", "targetFromSourceId": "ENSG00000102174", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "X_22245412_A_T", "variantRsId": "rs1556201217", "cohortPhenotypes": ["Familial X-linked hypophosphatemic vitamin D refractory rickets", "HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS", "Hypophosphatemia, vitamin D-resistant rickets", "Hypophosphatemic Rickets, X-Linked Dominant", "Vitamin D-resistant rickets, X-linked"], "diseaseFromSource": "Familial X-linked hypophosphatemic vitamin D refractory rickets", "diseaseFromSourceId": "C0733682", "diseaseFromSourceMappedId": "MONDO_0000044", "variantHgvsId": "NC_000023.11:g.22245412A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "targetFromSourceId": "ENSG00000163820", 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"Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967491G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178775672A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178775672A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178775672A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000561170", "targetFromSourceId": "ENSG00000133030", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_17213710_T_C", "variantRsId": "rs749359334", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17213710T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000561170", "targetFromSourceId": "ENSG00000154803", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_17213710_T_C", "variantRsId": "rs749359334", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17213710T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000561469", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68813352_A_G", "variantRsId": "rs1555515877", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.68813352A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000567283", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "22_28695133_CT_C", "variantRsId": "rs1555913410", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695134del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["25851414"], "studyId": "RCV000578146", "targetFromSourceId": "ENSG00000145982", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Hereditary spastic paraplegia 77", "Spastic paraplegia 77, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 77", "diseaseFromSourceId": "C4310750", "diseaseFromSourceMappedId": "Orphanet_685", "variantHgvsId": "NC_000006.12:g.5609990_5726136del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000583774", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_108294920_C_CTTTTAGTTACATTTACATTTTAGTTAA", "variantRsId": "rs1555101604", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor 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["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591738", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.215999483_216183366del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622517", "targetFromSourceId": "ENSG00000158813", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "X_69616478_CGTT_C", "variantRsId": "rs397516658", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000023.11:g.69616481_69616483del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622998", "targetFromSourceId": "ENSG00000181722", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "3_114350299_G_C", "variantRsId": "rs758842476", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000003.12:g.114350299G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000623514", "targetFromSourceId": "ENSG00000120868", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_98699486_G_C", "variantRsId": "rs181546874", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000012.12:g.98699486G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000632596", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31170004_TTAAATG_T", "variantRsId": "rs1555607130", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31170007_31170012del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000634423", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60865265_C_T", "variantRsId": "rs773045619", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60865265C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000665302", "targetFromSourceId": "ENSG00000072840", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "4_5711491_G_GCTCGGC", "variantRsId": "rs1164121689", "cohortPhenotypes": ["Chondroectodermal dysplasia", "Ellis-van Creveld syndrome", "Mesoectodermal dysplasia"], "diseaseFromSource": "Ellis-van Creveld syndrome", "diseaseFromSourceId": "C0013903", "diseaseFromSourceMappedId": "Orphanet_289", "variantHgvsId": "NC_000004.12:g.5711494CGGCCT[4]"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667149", "targetFromSourceId": "ENSG00000125124", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "16_56485590_C_CCCGCAGACGACCTGCT", "variantRsId": "rs1555520212", "cohortPhenotypes": ["Bardet-Biedl syndrome 2"], "diseaseFromSource": "Bardet-Biedl syndrome 2", "diseaseFromSourceId": "C2936863", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000016.10:g.56485592_56485607dup"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667804", "targetFromSourceId": "ENSG00000188603", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "16_28488663_C_T", "variantRsId": "rs1555469089", "cohortPhenotypes": ["CLN3 Disease", "CLN3-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 3", "Spielmeyer Sjogren disease"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 3", "diseaseFromSourceId": "C0751383", "diseaseFromSourceMappedId": "Orphanet_228346", "variantHgvsId": "NC_000016.10:g.28488663C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669385", "targetFromSourceId": "ENSG00000179941", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_76346796_TAG_T", "variantRsId": "rs1555202636", "cohortPhenotypes": ["Bardet-Biedl syndrome 10"], "diseaseFromSource": "Bardet-Biedl syndrome 10", "diseaseFromSourceId": "C1859568", "diseaseFromSourceMappedId": "EFO_0009022", "variantHgvsId": "NC_000012.12:g.76346797AG[1]"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669395", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_216321926_T_C", "variantRsId": "rs570446209", "cohortPhenotypes": ["RETINAL 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"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000902966", "targetFromSourceId": "ENSG00000109101", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_28537375_C_T", "variantRsId": "rs368962978", "cohortPhenotypes": ["Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency", "Pignata Guarino syndrome", "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"], "diseaseFromSource": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "diseaseFromSourceId": "C1866426", "diseaseFromSourceMappedId": "Orphanet_169095", "variantHgvsId": "NC_000017.11:g.28537375C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000968533", "targetFromSourceId": "ENSG00000198734", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_169549873_T_C", "variantRsId": "rs140627208", "cohortPhenotypes": ["Factor V deficiency", "LABILE FACTOR DEFICIENCY", "OWREN PARAHEMOPHILIA", "PARAHEMOPHILIA"], "diseaseFromSource": "Factor V deficiency", "diseaseFromSourceId": "C0015499", "diseaseFromSourceMappedId": "MONDO_0009210", "variantHgvsId": "NC_000001.11:g.169549873T>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000984024", "targetFromSourceId": "ENSG00000145495", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_10356343_A_ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT", "cohortPhenotypes": ["CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3", "Epilepsy, familial adult myoclonic, 3", "FAME3"], "diseaseFromSource": "Epilepsy, familial adult myoclonic, 3", "diseaseFromSourceId": "C3150860", "diseaseFromSourceMappedId": "MONDO_0019448", "variantHgvsId": "NC_000005.10:g.10356347ATTTT[641]"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990957", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_147928745_A_C", "variantRsId": "rs201580891", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147928745A>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} -{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} -{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001002696", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "8_99661492_G_C", "variantRsId": "rs750003804", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99661492G>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003635", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63439680_T_A", "variantRsId": "rs1600755440", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000020.11:g.63439680T>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Congenital cerebellar hypoplasia", "diseaseFromSourceId": "C5231391", "diseaseFromSourceMappedId": "HP_0001321", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "HP_0001332", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "MONDO_0003441", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Global developmental delay", "diseaseFromSourceId": "C0557874", "diseaseFromSourceMappedId": "HP_0001263", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Visual impairment", "diseaseFromSourceId": "C3665347", "diseaseFromSourceMappedId": "HP_0000505", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Generalized hypotonia", "diseaseFromSourceId": "C1858120", "diseaseFromSourceMappedId": "HP_0001290", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Cystic fibrosis", "diseaseFromSourceId": "C0010674", "diseaseFromSourceMappedId": "MONDO_0009061", "variantHgvsId": "NC_000007.14:g.117536629C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Congenital bilateral aplasia of vas deferens from CFTR mutation", "diseaseFromSourceId": "C0403814", "diseaseFromSourceMappedId": "MONDO_0010178", "variantHgvsId": "NC_000007.14:g.117536629C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010883", "targetFromSourceId": "ENSG00000119514", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_98840095_C_T", "variantRsId": "rs1297882734", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.98840095C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001011480", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95477637_C_T", "variantRsId": "rs1588600742", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95477637C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001020798", "targetFromSourceId": "ENSG00000135446", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57751081_G_C", "variantRsId": "rs587778185", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.57751081G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001026095", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_132677582_TG_T", "variantRsId": "rs1593081630", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.132677584del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027600", "targetFromSourceId": "ENSG00000109320", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_102537884_TG_T", "variantRsId": "rs1578735747", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000004.12:g.102537885del"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001030909", "targetFromSourceId": "ENSG00000121067", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_49619264_T_TC", "variantRsId": "rs2072163565", "cohortPhenotypes": ["Malignant tumor of prostate", "Prostate cancer"], "diseaseFromSource": "Malignant tumor of prostate", "diseaseFromSourceId": "C0376358", "diseaseFromSourceMappedId": "EFO_0001663", "variantHgvsId": "NC_000017.11:g.49619265dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "MONDO_0014662", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "Orphanet_140477", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001060849", "targetFromSourceId": "ENSG00000277586", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "8_24952904_T_TCACCTC", "variantRsId": "rs777344234", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E", "CMT 2E", "Charcot-Marie-Tooth disease type 2E", "Charcot-Marie-Tooth disease, axonal, Type 2E"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2E", "diseaseFromSourceId": "C1843225", "diseaseFromSourceMappedId": "MONDO_0015626", "variantHgvsId": "NC_000008.11:g.24952906_24952911dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001069843", "targetFromSourceId": "ENSG00000047457", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_149188097_C_T", "variantRsId": "rs1158598597", "cohortPhenotypes": ["Aceruloplasminemia", "Ceruloplasmin deficiency", "Deficiency of ceruloplasmin", "Deficiency of ferroxidase", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency"], "diseaseFromSource": "Deficiency of ferroxidase", "diseaseFromSourceId": "C0878682", "diseaseFromSourceMappedId": "MONDO_0011426", "variantHgvsId": "NC_000003.12:g.149188097C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001070333", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_113357180_G_T", "variantRsId": "rs2095842493", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000004.12:g.113357180G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["27599773", "31705726"], "studyId": "RCV001090034", "targetFromSourceId": "ENSG00000147408", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Skeletal dysplasia, mild, with joint laxity and advanced bone age"], "diseaseFromSource": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "diseaseFromSourceId": "C5394341", "diseaseFromSourceMappedId": "MONDO_0030029", "variantHgvsId": "NC_000008.11:g.19411890_19467180del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001102435", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_99923371_A_C", "variantRsId": "rs111689090", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99923371A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001103379", "targetFromSourceId": "ENSG00000109927", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_121118604_G_T", "variantRsId": "rs145913741", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 12", "DEAFNESS, AUTOSOMAL DOMINANT 8", "Deafness, autosomal dominant 12"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832187", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000011.10:g.121118604G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001110445", "targetFromSourceId": "ENSG00000133812", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_9845672_C_T", "variantRsId": "rs1856494115", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CMT 4B2", "Charcot-Marie-Tooth Neuropathy Type 4B2", "Charcot-Marie-Tooth disease type 4B2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4B2", "diseaseFromSourceId": "C1858278", "diseaseFromSourceMappedId": "MONDO_0011475", "variantHgvsId": "NC_000011.10:g.9845672C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001111544", "targetFromSourceId": "ENSG00000133104", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_36304571_C_T", "variantRsId": "rs150163770", "cohortPhenotypes": ["Autosomal recessive spastic paraplegia type 20", "Spastic paraparesis childhood-onset with distal muscle wasting", "Spastic paraplegia 20", "Spastic paraplegia autosomal recessive Troyer type", "Troyer syndrome"], "diseaseFromSource": "Troyer syndrome", "diseaseFromSourceId": "C0393559", "diseaseFromSourceMappedId": "MONDO_0010156", "variantHgvsId": "NC_000013.11:g.36304571C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116144", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_88826736_G_A", "variantRsId": "rs368784505", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88826736G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "HP_0003150", "variantHgvsId": "NC_000015.10:g.76283762G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "MONDO_0009282", "variantHgvsId": "NC_000015.10:g.76283762G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001119700", "targetFromSourceId": "ENSG00000140326", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_42735170_C_T", "variantRsId": "rs185031946", "cohortPhenotypes": ["Congenital dyserythropoietic anemia, type I", "Dyserythropoietic anemia, congenital type 1"], "diseaseFromSource": "Congenital dyserythropoietic anemia, type I", "diseaseFromSourceId": "C0271933", "diseaseFromSourceMappedId": "Orphanet_98869", "variantHgvsId": "NC_000015.10:g.42735170C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "MONDO_0013176", "variantHgvsId": "NC_000015.10:g.99972113T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "Orphanet_3449", "variantHgvsId": "NC_000015.10:g.99972113T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001123999", "targetFromSourceId": "ENSG00000184640", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_77499030_C_T", "variantRsId": "rs773235757", "cohortPhenotypes": ["Amyotrophic neuralgia", "Amyotrophy, hereditary neuralgic", "Amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "Brachial plexus neuropathy, hereditary", "Neuritis with brachial predilection"], "diseaseFromSource": "Amyotrophic neuralgia", "diseaseFromSourceId": "C1834304", "diseaseFromSourceMappedId": "MONDO_0017362", "variantHgvsId": "NC_000017.11:g.77499030C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001124072", "targetFromSourceId": "ENSG00000004939", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_44249713_C_T", "variantRsId": "rs1174269872", "cohortPhenotypes": ["Autosomal dominant distal renal tubular acidosis", "RENAL TUBULAR ACIDOSIS, DISTAL, 1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "Renal Tubular Acidosis, Type I", "Renal tubular acidosis 1"], "diseaseFromSource": "Autosomal dominant distal renal tubular acidosis", "diseaseFromSourceId": "CN280572", "diseaseFromSourceMappedId": "MONDO_0008368", "variantHgvsId": "NC_000017.11:g.44249713C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001126371", "targetFromSourceId": "ENSG00000166685", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_73201307_A_G", "variantRsId": "rs779677895", "cohortPhenotypes": ["CDG 2G", "CDG IIg", "CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME", "COG1 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "Congenital disorder of glycosylation type 2G"], "diseaseFromSource": "COG1 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931011", "diseaseFromSourceMappedId": "MONDO_0012637", "variantHgvsId": "NC_000017.11:g.73201307A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127077", "targetFromSourceId": "ENSG00000167210", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_46529203_G_A", "variantRsId": "rs200819355", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 77", "Deafness, autosomal recessive 77"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 77", "diseaseFromSourceId": "C2746083", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000018.10:g.46529203G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127542", "targetFromSourceId": "ENSG00000183287", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_59432669_C_G", "variantRsId": "rs1909983760", "cohortPhenotypes": ["Hennekam lymphangiectasia-lymphedema syndrome 1", "LYMPHATIC DYSPLASIA, GENERALIZED"], "diseaseFromSource": "Hennekam lymphangiectasia-lymphedema syndrome 1", "diseaseFromSourceId": "C4012050", "diseaseFromSourceMappedId": "MONDO_0016256", "variantHgvsId": "NC_000018.10:g.59432669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001128846", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178570877_A_G", "variantRsId": "rs1707950573", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178570877A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "Orphanet_98912", "variantHgvsId": "NC_000002.12:g.178730081T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "MONDO_0010870", "variantHgvsId": "NC_000002.12:g.178730081T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001134935", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "2_166375738_C_A", "variantRsId": "rs569406301", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166375738C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001135688", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_7114304_G_C", "variantRsId": "rs577444458", "cohortPhenotypes": ["Mendenhall Syndrome", "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities", "Pineal hyperplasia AND diabetes mellitus syndrome", "Rabson-Mendenhall Syndrome"], "diseaseFromSource": "Pineal hyperplasia AND diabetes mellitus syndrome", "diseaseFromSourceId": "C0271695", "diseaseFromSourceMappedId": "MONDO_0009874", "variantHgvsId": "NC_000019.10:g.7114304G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001136266", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178546776_A_G", "variantRsId": "rs369870689", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178546776A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001138227", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_10648021_C_A", "variantRsId": "rs1337206941", "cohortPhenotypes": ["Isolated Nonsyndromic Congenital Heart Disease"], "diseaseFromSource": "Isolated Nonsyndromic Congenital Heart Disease", "diseaseFromSourceId": "CN239319", "variantHgvsId": "NC_000020.11:g.10648021C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001140928", "targetFromSourceId": "ENSG00000101292", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_5302398_C_A", "variantRsId": "rs143647776", "cohortPhenotypes": ["HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA", "Hypogonadotropic hypogonadism 3 with or without anosmia", "Kallmann syndrome 3", "PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency"], "diseaseFromSource": "Hypogonadotropic hypogonadism 3 with or without anosmia", "diseaseFromSourceId": "C3550478", "diseaseFromSourceMappedId": "Orphanet_478", "variantHgvsId": "NC_000020.11:g.5302398C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001142553", "targetFromSourceId": "ENSG00000172071", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_88557632_T_G", "variantRsId": "rs1474906844", "cohortPhenotypes": ["Wolcott Rallison syndrome", "Wolcott-Rallison dysplasia"], "diseaseFromSource": "Wolcott-Rallison dysplasia", "diseaseFromSourceId": "C0432217", "diseaseFromSourceMappedId": "MONDO_0009192", "variantHgvsId": "NC_000002.12:g.88557632T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "MONDO_0009901", "variantHgvsId": "NC_000021.9:g.41740634C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "Orphanet_1234", "variantHgvsId": "NC_000021.9:g.41740634C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001146411", "targetFromSourceId": "ENSG00000113966", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_97788005_G_A", "variantRsId": "rs142258123", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.97788005G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148356", "targetFromSourceId": "ENSG00000163666", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "3_57199924_C_T", "variantRsId": "rs368171529", "cohortPhenotypes": ["De morsier syndrome", "Hypopituitarism and septooptic 'dysplasia'", "Septo-optic dysplasia", "Septo-optic dysplasia sequence", "Septo-optic dysplasia with growth hormone deficiency"], "diseaseFromSource": "Septo-optic dysplasia sequence", "diseaseFromSourceId": "C0338503", "diseaseFromSourceMappedId": "Orphanet_3157", "variantHgvsId": "NC_000003.12:g.57199924C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001149041", "targetFromSourceId": "ENSG00000163817", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_45758959_C_T", "variantRsId": "rs191934337", "cohortPhenotypes": ["GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "Hyperglycinuria", "IMINOGLYCINURIA TYPE II"], "diseaseFromSource": "Hyperglycinuria", "diseaseFromSourceId": "C0543541", "diseaseFromSourceMappedId": "HP_0003108", "variantHgvsId": "NC_000003.12:g.45758959C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001150592", "targetFromSourceId": "ENSG00000121207", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_154750256_C_T", "variantRsId": "rs745651761", "cohortPhenotypes": ["Leber congenital amaurosis 14"], "diseaseFromSource": "Leber congenital amaurosis 14", "diseaseFromSourceId": "C2750063", "diseaseFromSourceMappedId": "MONDO_0018998", "variantHgvsId": "NC_000004.12:g.154750256C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "MONDO_0013731", "variantHgvsId": "NC_000005.10:g.127459867G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "Orphanet_98920", "variantHgvsId": "NC_000005.10:g.127459867G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153859", "targetFromSourceId": "ENSG00000135604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_144189005_T_C", "variantRsId": "rs895149662", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 4"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 4", "diseaseFromSourceId": "C1863728", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000006.12:g.144189005T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001158788", "targetFromSourceId": "ENSG00000242802", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_4794226_A_G", "variantRsId": "rs62453211", "cohortPhenotypes": ["Hereditary spastic paraplegia 48", "Spastic paraplegia 48", "Spastic paraplegia 48, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 48", "diseaseFromSourceId": "C3150901", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000007.14:g.4794226A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "Orphanet_861", "variantHgvsId": "NC_000006.12:g.43517306G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "MONDO_0002457", "variantHgvsId": "NC_000006.12:g.43517306G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "MONDO_0007080", "variantHgvsId": "NC_000008.11:g.142917684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "Orphanet_403", "variantHgvsId": "NC_000008.11:g.142917684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166312", "targetFromSourceId": "ENSG00000147894", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_27547172_T_C", "variantRsId": "rs184151041", "cohortPhenotypes": ["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "Frontotemporal dementia with motor neuron disease 1"], "diseaseFromSource": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "diseaseFromSourceId": "C3888102", "diseaseFromSourceMappedId": "MONDO_0007105", "variantHgvsId": "NC_000009.12:g.27547172T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166842", "targetFromSourceId": "ENSG00000169071", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_91731104_G_A", "variantRsId": "rs1837228232", "cohortPhenotypes": ["Autosomal recessive Robinow syndrome", "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA", "COVESDEM SYNDROME", "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"], "diseaseFromSource": "Autosomal recessive Robinow syndrome", "diseaseFromSourceId": "C5399974", "diseaseFromSourceMappedId": "MONDO_0009999", "variantHgvsId": "NC_000009.12:g.91731104G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169811", "targetFromSourceId": "ENSG00000178445", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_6532521_A_C", "variantRsId": "rs999698910", "cohortPhenotypes": ["Glycine encephalopathy", "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia"], "diseaseFromSource": "Non-ketotic hyperglycinemia", "diseaseFromSourceId": "C0751748", "diseaseFromSourceMappedId": "MONDO_0011612", "variantHgvsId": "NC_000009.12:g.6532521A>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001174370", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_7141784_G_A", "variantRsId": "rs149536206", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000019.10:g.7141784G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001178962", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11116156_T_G", "variantRsId": "rs2077459810", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11116156T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001179648", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_52403846_A_G", "variantRsId": "rs1553644986", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.52403846A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001180540", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55046605_T_C", "variantRsId": "rs748403083", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55046605T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001187337", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_61743154_CA_C", "variantRsId": "rs1474570916", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61743155del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001196131", "targetFromSourceId": "ENSG00000104728", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_1864432_A_G", "variantRsId": "rs746857277", "cohortPhenotypes": ["Autosomal dominant slowed nerve conduction velocity"], "diseaseFromSource": "Autosomal dominant slowed nerve conduction velocity", "diseaseFromSourceId": "C1842357", "diseaseFromSourceMappedId": "MONDO_0011998", "variantHgvsId": "NC_000008.11:g.1864432A>G"} -{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000006.12:g.156778479G>C"} -{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "HP_0001249", "variantHgvsId": "NC_000006.12:g.156778479G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001253978", "targetFromSourceId": "ENSG00000120156", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "9_27206796_A_G", "variantRsId": "rs779970349", "cohortPhenotypes": ["Multiple cutaneous and mucosal venous malformations"], "diseaseFromSource": "Multiple cutaneous and mucosal venous malformations", "diseaseFromSourceId": "C1838437", "diseaseFromSourceMappedId": "Orphanet_2451", "variantHgvsId": "NC_000009.12:g.27206796A>G"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001255967", "targetFromSourceId": "ENSG00000225968", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["ELFN1-related condition"], "diseaseFromSource": "ELFN1-related condition", "variantHgvsId": "NC_000007.14:g.1687729_1779914del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266126", "targetFromSourceId": "ENSG00000275410", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_37739433_CACTT_C", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000017.11:g.37739436_37739439del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001276465", "targetFromSourceId": "ENSG00000158169", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_95247444_T_C", "variantRsId": "rs1064793110", "cohortPhenotypes": ["FACC", "FANCONI PANCYTOPENIA, TYPE 3", "Fanconi anemia complementation group C", "Fanconi anemia, group C"], "diseaseFromSource": "Fanconi anemia complementation group C", "diseaseFromSourceId": "C3468041", "diseaseFromSourceMappedId": "MONDO_0009213", "variantHgvsId": "NC_000009.12:g.95247444T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001278266", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71778253_T_C", "variantRsId": "rs762613557", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71778253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71551711C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71551711C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30822429", "32098969"], "studyId": "RCV001290959", "targetFromSourceId": "ENSG00000130475", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "19_17783101_T_TG", "variantRsId": "rs2093571190", "cohortPhenotypes": ["Immunodeficiency 76"], "diseaseFromSource": "Immunodeficiency 76", "diseaseFromSourceId": "C5543004", "variantHgvsId": "NC_000019.10:g.17783102dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309369", "targetFromSourceId": "ENSG00000155975", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_17274740_A_G", "variantRsId": "rs371463914", "cohortPhenotypes": ["Hereditary spastic paraplegia 53", "Spastic paraplegia 53, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 53", "diseaseFromSourceId": "C3539494", "diseaseFromSourceMappedId": "Orphanet_319199", "variantHgvsId": "NC_000008.11:g.17274740A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001312346", "targetFromSourceId": "ENSG00000185379", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_35103291_A_G", "variantRsId": "rs2091560784", "cohortPhenotypes": ["Breast-ovarian cancer, familial 4", "Breast-ovarian cancer, familial, susceptibility to, 4"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 4", "diseaseFromSourceId": "C3280345", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.35103291A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001321429", "targetFromSourceId": "ENSG00000176165", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_28767506_C_T", "variantRsId": "rs1381438340", "cohortPhenotypes": ["Rett syndrome, congenital variant"], "diseaseFromSource": "Rett syndrome, congenital variant", "diseaseFromSourceId": "C3150705", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000014.9:g.28767506C>T"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "targetFromSourceId": "ENSG00000111860", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} -{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "targetFromSourceId": "ENSG00000198523", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} -{"alleleOrigins": ["germline", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001336651", "targetFromSourceId": "ENSG00000165970", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_20652404_T_C", "variantRsId": "rs142855098", "cohortPhenotypes": ["HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT", "HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE", "Hyperekplexia 3"], "diseaseFromSource": "Hyperekplexia 3", "diseaseFromSourceId": "C3553288", "diseaseFromSourceMappedId": "MONDO_0021022", "variantHgvsId": "NC_000011.10:g.20652404T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001374818", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "15_48520658_C_T", "cohortPhenotypes": ["Isolated thoracic aortic aneurysm"], "diseaseFromSource": "Isolated thoracic aortic aneurysm", "variantHgvsId": "NC_000015.10:g.48520658C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "targetFromSourceId": "ENSG00000105618", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "targetFromSourceId": "ENSG00000237017", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377853", "targetFromSourceId": "ENSG00000145375", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "4_122979387_G_T", "cohortPhenotypes": ["Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "diseaseFromSourceId": "C4225276", "variantHgvsId": "NC_000004.12:g.122979387G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001450487", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_37011847_T_C", "variantRsId": "rs754102133", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000003.12:g.37011847T>C"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526477", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166038074_A_G", "cohortPhenotypes": ["GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166038074A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526726", "targetFromSourceId": "ENSG00000137474", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_77157310_A_G", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000011.10:g.77157310A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001537974", "targetFromSourceId": "ENSG00000107521", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_98429485_G_A", "cohortPhenotypes": ["DELTA STORAGE POOL DISEASE", "Hermansky-Pudlak syndrome 1"], "diseaseFromSource": "Hermansky-Pudlak syndrome 1", "diseaseFromSourceId": "C2931875", "diseaseFromSourceMappedId": "MONDO_0019312", "variantHgvsId": "NC_000010.11:g.98429485G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001542382", "targetFromSourceId": "ENSG00000054983", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Galactocerebrosidase deficiency", "Galactosylceramide beta-galactosidase deficiency", "Globoid cell leukoencephalopathy", "Krabbe leukodystrophy", "Leukodystrophy, Globoid Cell"], "diseaseFromSource": "Galactosylceramide beta-galactosidase deficiency", "diseaseFromSourceId": "C0023521", "diseaseFromSourceMappedId": "MONDO_0009499", "variantHgvsId": "NC_000014.9:g.87925163_87956828del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001542680", "targetFromSourceId": "ENSG00000139132", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_32598579_TAGATC_T", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "Charcot-Marie-Tooth Neuropathy Type 4H", "Charcot-Marie-Tooth disease type 4H"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4H", "diseaseFromSourceId": "C1836336", "diseaseFromSourceMappedId": "MONDO_0012250", "variantHgvsId": "NC_000012.12:g.32598582_32598586del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "targetFromSourceId": "ENSG00000167515", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30767057"], "studyId": "RCV001543594", "targetFromSourceId": "ENSG00000197467", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "10_69940993_TTC_CCCT", "cohortPhenotypes": ["Congenital myasthenic syndrome 19"], "diseaseFromSource": "Congenital myasthenic syndrome 19", "diseaseFromSourceId": "C4225235", "variantHgvsId": "NC_000010.11:g.69940993_69940995delinsCCCT"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25390489C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25390489C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71668829C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71668829C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["20020534"], "studyId": "RCV001580158", "targetFromSourceId": "ENSG00000005961", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_44374732_G_A", "variantRsId": "rs80002943", "cohortPhenotypes": ["Glanzmann thrombasthenia 1"], "diseaseFromSource": "Glanzmann thrombasthenia 1", "diseaseFromSourceId": "CN300358", "diseaseFromSourceMappedId": "MONDO_0031332", "variantHgvsId": "NC_000017.11:g.44374732G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001770008", "targetFromSourceId": "ENSG00000156531", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_134377702_G_T", "cohortPhenotypes": ["Borjeson Syndrome", "Borjeson-Forssman-Lehmann syndrome", "MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS", "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE", "Mental deficiency, epilepsy and endocrine disorders"], "diseaseFromSource": "Borjeson-Forssman-Lehmann syndrome", "diseaseFromSourceId": "C0265339", "diseaseFromSourceMappedId": "MONDO_0010537", "variantHgvsId": "NC_000023.11:g.134377702G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001783910", "targetFromSourceId": "ENSG00000100106", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_37724732_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 28", "Deafness, autosomal recessive 28"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 28", "diseaseFromSourceId": "C1853276", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000022.11:g.37724732C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "MONDO_0019145", "variantHgvsId": "NC_000002.12:g.127428543G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "Orphanet_745", "variantHgvsId": "NC_000002.12:g.127428543G>A"} -{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807686", "targetFromSourceId": "ENSG00000141052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_12744433_TTAAG_T", "cohortPhenotypes": ["Megabladder, congenital"], "diseaseFromSource": "Megabladder, congenital", "diseaseFromSourceId": "C5231472", "diseaseFromSourceMappedId": "EFO_0010655", "variantHgvsId": "NC_000017.11:g.12744435AAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_169446", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_331226", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860713", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905935_G_A", "variantRsId": "rs1588310178", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905935G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001865311", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "11_108243952_G_A", "variantRsId": "rs778624615", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108243952G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001866374", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[4]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001877430", "targetFromSourceId": "ENSG00000116688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_12007101_T_G", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.12007101T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001882243", "targetFromSourceId": "ENSG00000138686", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_121847458_G_T", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000004.12:g.121847458G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C3553709", "diseaseFromSourceMappedId": "MONDO_0013890", "variantHgvsId": "NC_000016.10:g.724754C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C3553709", "diseaseFromSourceMappedId": "Orphanet_595", "variantHgvsId": "NC_000016.10:g.724754C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001897586", "targetFromSourceId": "ENSG00000117984", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_1761355_G_A", "cohortPhenotypes": ["Ceroid storage disease", "Neuronal ceroid lipofuscinosis"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis", "diseaseFromSourceId": "C0027877", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000011.10:g.1761355G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 7B", "diseaseFromSourceId": "C1843315", "variantHgvsId": "NC_000002.12:g.74370827T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 1", "diseaseFromSourceId": "C1862939", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000002.12:g.74370827T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Perry syndrome", "diseaseFromSourceId": "C1868594", "diseaseFromSourceMappedId": "MONDO_0008201", "variantHgvsId": "NC_000002.12:g.74370827T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001904797", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_10376541_A_G", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10376541A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908759", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_76983607_AT_A", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983608del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001909944", "targetFromSourceId": "ENSG00000124140", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_46035866_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 34", "Early infantile epileptic encephalopathy 34"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 34", "diseaseFromSourceId": "C4225257", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.46035866G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "Orphanet_567", "variantHgvsId": "NC_000022.11:g.19764185G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "MONDO_0018923", "variantHgvsId": "NC_000022.11:g.19764185G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001916404", "targetFromSourceId": "ENSG00000151348", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_44108183_C_A", "cohortPhenotypes": ["EXOSTOSES, MULTIPLE, TYPE II", "Exostoses, multiple, type 2"], "diseaseFromSource": "Exostoses, multiple, type 2", "diseaseFromSourceId": "C1851413", "diseaseFromSourceMappedId": "MONDO_0007586", "variantHgvsId": "NC_000011.10:g.44108183C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001925894", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476350_C_G", "cohortPhenotypes": ["Cranioectodermal dysplasia 1", "LEVIN SYNDROME I", "Levin syndrome 1"], "diseaseFromSource": "Cranioectodermal dysplasia 1", "diseaseFromSourceId": "C0432235", "diseaseFromSourceMappedId": "MONDO_0009032", "variantHgvsId": "NC_000003.12:g.129476350C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001929939", "targetFromSourceId": "ENSG00000136928", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_98708574_G_C", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000009.12:g.98708574G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001932674", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "MONDO_0013661", "variantHgvsId": "NC_000016.10:g.89101089T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001932674", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "Orphanet_289504", "variantHgvsId": "NC_000016.10:g.89101089T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001933777", "targetFromSourceId": "ENSG00000102908", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_69691095_T_TG", "cohortPhenotypes": ["Immunodeficiency"], "diseaseFromSource": "Immunodeficiency", "diseaseFromSourceId": "C0021051", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000016.10:g.69691096dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001938611", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99913677_G_A", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99913677G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001940016", "targetFromSourceId": "ENSG00000131844", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_71652750_G_C", "cohortPhenotypes": ["3 alpha methylcrotonyl-CoA carboxylase 2 deficiency", "3 alpha methylcrotonylglycinuria 2", "3-methylcrotonyl-CoA carboxylase 2 deficiency", "MCC 2 deficiency", "METHYLCROTONYLGLYCINURIA, TYPE II", "Methylcrotonylglycinuria type 2"], "diseaseFromSource": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "diseaseFromSourceId": "C1859499", "diseaseFromSourceMappedId": "Orphanet_6", "variantHgvsId": "NC_000005.10:g.71652750G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001947467", "targetFromSourceId": "ENSG00000137834", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "15_66703348_CGGT_C", "cohortPhenotypes": ["Aortic valve disease 2"], "diseaseFromSource": "Aortic valve disease 2", "diseaseFromSourceId": "C3542024", "diseaseFromSourceMappedId": "MONDO_0007194", "variantHgvsId": "NC_000015.10:g.66703351_66703353del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "Tubular Aggregate Myopathy"], "diseaseFromSource": "Stormorken syndrome", "diseaseFromSourceId": "C1861451", "diseaseFromSourceMappedId": "MONDO_0008497", "variantHgvsId": "NC_000011.10:g.4070116G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", "cohortPhenotypes": ["Combined immunodeficiency due to STIM1 deficiency", "IMMUNODEFICIENCY 10", "Immune dysfunction with T-cell inactivation due to calcium entry defect 2", "Myopathy with tubular aggregates", "STIM1 DEFICIENCY", "Stormorken syndrome", "THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS", "Tubular Aggregate Myopathy"], "diseaseFromSource": "Combined immunodeficiency due to STIM1 deficiency", "diseaseFromSourceId": "C2748557", "diseaseFromSourceMappedId": "MONDO_0013008", "variantHgvsId": "NC_000011.10:g.4070116G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001949887", "targetFromSourceId": "ENSG00000167323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_4070116_G_A", 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"diseaseFromSourceId": "C4015349", "variantHgvsId": "NC_000011.10:g.68939703C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002006942", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68939703_C_G", "cohortPhenotypes": ["Autosomal recessive distal spinal muscular atrophy 1", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S", "HMN VI", "Neuronopathy, distal hereditary motor, type VI", "Neuronopathy, severe infantile axonal, with respiratory failure", "SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC", "Severe infantile axonal neuropathy with respiratory failure", "Spinal muscular atrophy with respiratory distress 1"], "diseaseFromSource": "Autosomal recessive distal spinal muscular atrophy 1", "diseaseFromSourceId": "C1858517", "diseaseFromSourceMappedId": "MONDO_0011436", "variantHgvsId": "NC_000011.10:g.68939703C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010659", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_73572934_A_G", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73572934A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "targetFromSourceId": "ENSG00000001630", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "7_92097231_A_T", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "targetFromSourceId": "ENSG00000127914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_92097231_A_T", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002014266", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "16_2071891_C_CCTACTCCCTGCT", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2071894_2071905dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021081", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42964862_C_T", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42964862C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021484", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "6_42978265_C_T", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42978265C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002022033", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132659463_T_A", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132659463T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178601279del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178601279del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178601279del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152387283G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152387283G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "diseaseFromSourceId": "C2751807", "diseaseFromSourceMappedId": "MONDO_0020336", "variantHgvsId": "NC_000006.12:g.152387283G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032970", "targetFromSourceId": "ENSG00000184634", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "X_71141227_T_TAGCAGCAGCAGCAACAGCAACAGCAGCAGC", "cohortPhenotypes": ["FG syndrome 1", "Keller syndrome", "MED12-Related Disorders", "Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "Opitz-Kaveggia syndrome"], "diseaseFromSource": "FG syndrome 1", "diseaseFromSourceId": "C0220769", "diseaseFromSourceMappedId": "EFO_0009297", "variantHgvsId": "NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002033542", "targetFromSourceId": "ENSG00000181192", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_12101135_A_C", "cohortPhenotypes": ["2-KETOADIPIC ACIDURIA", "2-aminoadipic 2-oxoadipic aciduria", "ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA", "Aminoadipic aciduria"], "diseaseFromSource": "2-aminoadipic 2-oxoadipic aciduria", "diseaseFromSourceId": "C1859817", "diseaseFromSourceMappedId": "MONDO_0008774", "variantHgvsId": "NC_000010.11:g.12101135A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036119", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133244386_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133244386G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy, familial restrictive, 3", "diseaseFromSourceId": "C2676271", "variantHgvsId": "NC_000001.11:g.201363312C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 2", "diseaseFromSourceId": "C1861864", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000001.11:g.201363312C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Dilated cardiomyopathy 1D", "diseaseFromSourceId": "C1832243", "diseaseFromSourceMappedId": "Orphanet_54260", "variantHgvsId": "NC_000001.11:g.201363312C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037311", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_55174749_G_T", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174749G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002038242", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_76983931_A_G", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983931A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002040305", "targetFromSourceId": "ENSG00000185313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38722326_G_A", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38722326G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 4", "diseaseFromSourceId": "C1865409", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000009.12:g.132329754G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "diseaseFromSourceId": "C1853761", "diseaseFromSourceMappedId": "Orphanet_94124", "variantHgvsId": "NC_000009.12:g.132329754G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Early-onset Parkinson disease 20", "diseaseFromSourceId": "C3809824", "variantHgvsId": "NC_000021.9:g.32650238T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 53", "diseaseFromSourceId": "C4479313", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000021.9:g.32650238T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "MONDO_0011581", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "Orphanet_65282", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "MONDO_0011831", "variantHgvsId": "NC_000006.12:g.7585421A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "CDG Is", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C3550904", "diseaseFromSourceMappedId": "MONDO_0010472", "variantHgvsId": "NC_000023.11:g.111728246G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "CDG Is", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C3550904", "diseaseFromSourceMappedId": "Orphanet_324422", "variantHgvsId": "NC_000023.11:g.111728246G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002062508", "targetFromSourceId": "ENSG00000133710", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "5_148104939_C_T", "variantRsId": "rs375240260", "cohortPhenotypes": ["COMEL-NETHERTON SYNDROME", "ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE", "Netherton disease", "Netherton syndrome"], "diseaseFromSource": "Netherton syndrome", "diseaseFromSourceId": "C0265962", "diseaseFromSourceMappedId": "MONDO_0009735", "variantHgvsId": "NC_000005.10:g.148104939C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002066311", "targetFromSourceId": "ENSG00000105647", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_18168762_G_A", "variantRsId": "rs201568661", "cohortPhenotypes": ["MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT", "MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "diseaseFromSourceId": "C4012727", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000019.10:g.18168762G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002068539", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154030711_A_G", "variantRsId": "rs782420258", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030711A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002070310", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_23422330_T_TAG", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23422332GA[4]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002077695", "targetFromSourceId": "ENSG00000188158", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_17376015_A_G", "cohortPhenotypes": ["Cataract X-linked with Hutchinsonian teeth", "Cataract dental syndrome", "Mesiodens cataract syndrome", "Nance-Horan syndrome"], "diseaseFromSource": "Nance-Horan syndrome", "diseaseFromSourceId": "C0796085", "diseaseFromSourceMappedId": "MONDO_0010545", "variantHgvsId": "NC_000023.11:g.17376015A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1602561T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1602561T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002088496", "targetFromSourceId": "ENSG00000183230", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_66379136_T_G", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13", "Arrhythmogenic right ventricular dysplasia 13", "Arrhythmogenic right ventricular dysplasia, familial, 13"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 13", "diseaseFromSourceId": "C3810138", "diseaseFromSourceMappedId": "Orphanet_217656", "variantHgvsId": "NC_000010.11:g.66379136T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002094328", "targetFromSourceId": "ENSG00000148677", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "10_90918983_A_AATATATATATATATATAT", "cohortPhenotypes": ["ANKRD1-related dilated cardiomyopathy"], "diseaseFromSource": "ANKRD1-related dilated cardiomyopathy", "diseaseFromSourceId": "CN119551", "variantHgvsId": "NC_000010.11:g.90918985TA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002098228", "targetFromSourceId": "ENSG00000135766", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_231421372_G_A", "cohortPhenotypes": ["Erythrocytosis, familial, 3"], "diseaseFromSource": "Erythrocytosis, familial, 3", "diseaseFromSourceId": "C1853286", "diseaseFromSourceMappedId": "MONDO_0007572", "variantHgvsId": "NC_000001.11:g.231421372G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "MONDO_0013177", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "Orphanet_34520", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_26", "variantHgvsId": "NC_000001.11:g.45508289G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_79282", "variantHgvsId": "NC_000001.11:g.45508289G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002106665", "targetFromSourceId": "ENSG00000018236", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_40910120_G_C", "cohortPhenotypes": ["Compton-North congenital myopathy"], "diseaseFromSource": "Compton-North congenital myopathy", "diseaseFromSourceId": "C2675527", "diseaseFromSourceMappedId": "MONDO_0012929", "variantHgvsId": "NC_000012.12:g.40910120G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002107226", "targetFromSourceId": "ENSG00000081014", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_51001053_T_C", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000015.10:g.51001053T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002111971", "targetFromSourceId": "ENSG00000142627", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_16135152_C_A", "cohortPhenotypes": ["CATARACT 6, CONGENITAL TOTAL", "CATARACT 6, POSTERIOR POLAR", "CATARACT, AGE-RELATED CORTICAL, 2", "Cataract 6 multiple types", "Cataract, posterior polar, 1"], "diseaseFromSource": "Cataract 6 multiple types", "diseaseFromSourceId": "C1861825", "variantHgvsId": "NC_000001.11:g.16135152C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002113550", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_3254642_C_G", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254642C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "MONDO_0008708", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "Orphanet_36", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65558594G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65558594G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002135703", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_10271558_T_C", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10271558T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002146927", "targetFromSourceId": "ENSG00000129250", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "17_5004838_G_C", "cohortPhenotypes": ["Ataxia, spastic, 2, autosomal recessive", "Spastic ataxia 2"], "diseaseFromSource": "Spastic ataxia 2", "diseaseFromSourceId": "C1969796", "diseaseFromSourceMappedId": "Orphanet_316240", "variantHgvsId": "NC_000017.11:g.5004838G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002150054", "targetFromSourceId": "ENSG00000092929", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_75843455_TCTCTGCACCCCAGCA_T", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 3"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 3", "diseaseFromSourceId": "C1837174", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000017.11:g.75843461_75843475del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002154303", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_89970444_A_G", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970444A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156689", "targetFromSourceId": "ENSG00000135454", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_57630206_G_A", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57630206G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156770", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154030523_C_T", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030523C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002163901", "targetFromSourceId": "ENSG00000143951", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_63174851_ATG_A", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000002.12:g.63174852TG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "MONDO_0018958", "variantHgvsId": "NC_000002.12:g.151492377C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000002.12:g.151492377C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170920", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_58692804_G_A", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58692804G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002172121", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_99391670_T_C", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99391670T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002174084", "targetFromSourceId": "ENSG00000101986", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_153725899_C_G", "cohortPhenotypes": ["ADDISON DISEASE AND CEREBRAL SCLEROSIS", "Adrenoleukodystrophy", "BRONZE SCHILDER DISEASE", "MELANODERMIC LEUKODYSTROPHY", "SIEMERLING-CREUTZFELDT DISEASE"], "diseaseFromSource": "Adrenoleukodystrophy", "diseaseFromSourceId": "C0162309", "diseaseFromSourceMappedId": "Orphanet_43", "variantHgvsId": "NC_000023.11:g.153725899C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "MONDO_0013389", "variantHgvsId": "NC_000020.11:g.8371462A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.8371462A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002198643", "targetFromSourceId": "ENSG00000169379", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "3_94036766_AA_CC", "cohortPhenotypes": ["Joubert syndrome 8"], "diseaseFromSource": "Joubert syndrome 8", "diseaseFromSourceId": "C2676771", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000003.12:g.94036766_94036767delinsCC"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200041", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "5_112827094_C_A", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827094C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "targetFromSourceId": "ENSG00000134330", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "targetFromSourceId": "ENSG00000151694", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002202986", "targetFromSourceId": "ENSG00000117020", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_243573016_G_A", "cohortPhenotypes": ["MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SOMATIC", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "diseaseFromSourceId": "C4014738", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000001.11:g.243573016G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002205056", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "2_188992883_T_G", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188992883T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "MONDO_0015998", "variantHgvsId": "NC_000001.11:g.150554470G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "Orphanet_1885", "variantHgvsId": "NC_000001.11:g.150554470G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002219838", "targetFromSourceId": "ENSG00000111262", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_4911867_G_A", "cohortPhenotypes": ["ATAXIA, EPISODIC, WITH MYOKYMIA", "Episodic ataxia type 1", "MYOKYMIA WITH PERIODIC ATAXIA", "PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY"], "diseaseFromSource": "Episodic ataxia type 1", "diseaseFromSourceId": "C1719788", "diseaseFromSourceMappedId": "MONDO_0008047", "variantHgvsId": "NC_000012.12:g.4911867G>A"} -{"alleleOrigins": ["maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001822951", "targetFromSourceId": "ENSG00000091536", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_18171738_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 3", "Deafness, autosomal recessive 3", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 3", "diseaseFromSourceId": "C1838263", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000017.11:g.18171738C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476345", "targetFromSourceId": "ENSG00000183873", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "3_38585690_C_A", "variantRsId": "rs1060501130", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38585690C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["6344088"], "studyId": "RCV000011137", "targetFromSourceId": "ENSG00000160211", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154532625_C_T", "variantRsId": "rs137852336", "cohortPhenotypes": ["Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "Class I glucose-6-phosphate dehydrogenase deficiency", "Favism, susceptibility to", "Glucose-6-phosphate dehydrogenase deficiency", "Hemolytic anemia due to G6PD deficiency"], "diseaseFromSource": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "diseaseFromSourceId": "C2720289", "diseaseFromSourceMappedId": "EFO_1000641", "variantHgvsId": "NC_000023.11:g.154532625C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276459", "targetFromSourceId": "ENSG00000038427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_83582037_T_C", "variantRsId": "rs10233", "cohortPhenotypes": ["Hyaloideoretinal degeneration of Wagner", "VCAN-Related Vitreoretinopathy", "WAGNER VITREORETINOPATHY", "Wagner disease", "Wagner disease (formerly)", "Wagner syndrome", "Wagner syndrome type 1", "Wagner vitreoretinal degeneration"], "diseaseFromSource": "Wagner syndrome", "diseaseFromSourceId": "C1840452", "diseaseFromSourceMappedId": "MONDO_0007740", "variantHgvsId": "NC_000005.10:g.83582037T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001913088", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116699900_G_C", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116699900G>C"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "targetFromSourceId": "ENSG00000104112", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "targetFromSourceId": "ENSG00000128872", "variantFunctionalConsequenceId": "SO_0001580", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "targetFromSourceId": "ENSG00000140280", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "targetFromSourceId": "ENSG00000178234", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "targetFromSourceId": "ENSG00000184216", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "targetFromSourceId": "ENSG00000284286", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely 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"cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2084230G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "Orphanet_98810", "variantHgvsId": "NC_000002.12:g.218341552C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "MONDO_0700088", "variantHgvsId": "NC_000002.12:g.218341552C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000674492", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_90803668_CT_C", "variantRsId": "rs1555424311", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90803670del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892535", "targetFromSourceId": "ENSG00000134516", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_170042099_C_T", "variantRsId": "rs151251345", "cohortPhenotypes": ["DOCK2 deficiency", "Immunodeficiency 40"], "diseaseFromSource": "DOCK2 deficiency", "diseaseFromSourceId": "C4225328", "diseaseFromSourceMappedId": "Orphanet_179006", "variantHgvsId": "NC_000005.10:g.170042099C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001018332", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_11024411_G_A", "variantRsId": "rs529586298", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000019.10:g.11024411G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044598", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_108281079_T_TC", "variantRsId": "rs2082208208", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108281081dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001221204", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_58720800_G_GT", "variantRsId": "rs2048893092", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58720802dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-CDG", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-CDG", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "Orphanet_137", "variantHgvsId": "NC_000001.11:g.63651667A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-CDG", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-CDG", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "MONDO_0013968", "variantHgvsId": "NC_000001.11:g.63651667A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001395954", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_55174034_G_C", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174034G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001401655", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "19_11034207_G_T", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11034207G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "targetFromSourceId": "ENSG00000076685", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_103089684_C_T", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "targetFromSourceId": "ENSG00000148842", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_103089684_C_T", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001413739", "targetFromSourceId": "ENSG00000035403", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_74114397_G_A", "cohortPhenotypes": ["Dilated cardiomyopathy 1W"], "diseaseFromSource": "Dilated cardiomyopathy 1W", "diseaseFromSourceId": "C1969639", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.74114397G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001419888", "targetFromSourceId": "ENSG00000118046", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_1223033_A_C", "cohortPhenotypes": ["Lentiginosis, perioral", "Periorificial lentiginosis syndrome", "Peutz-Jeghers polyposis", "Peutz-Jeghers syndrome", "Polyposis, hamartomatous intestinal", "Polyps-and-spots syndrome"], "diseaseFromSource": "Peutz-Jeghers syndrome", "diseaseFromSourceId": "C0031269", "diseaseFromSourceMappedId": "MONDO_0008280", "variantHgvsId": "NC_000019.10:g.1223033A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001424172", "targetFromSourceId": "ENSG00000197283", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_33435296_C_T", "variantRsId": "rs542048435", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5", "Intellectual disability, autosomal dominant 5"], "diseaseFromSource": "Intellectual disability, autosomal dominant 5", "diseaseFromSourceId": "C2675473", "variantHgvsId": "NC_000006.12:g.33435296C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "CN117977", "diseaseFromSourceMappedId": "MONDO_0100228", "variantHgvsId": "NC_000006.12:g.129288036A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "CN117977", "diseaseFromSourceMappedId": "EFO_0009138", "variantHgvsId": "NC_000006.12:g.129288036A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68811766C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68811766C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001429981", "targetFromSourceId": "ENSG00000105227", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_40397704_T_C", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000019.10:g.40397704T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Hypokalemic periodic paralysis, type 1", "diseaseFromSourceId": "C3714580", "variantHgvsId": "NC_000001.11:g.201062066G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Malignant hyperthermia, susceptibility to, 5", "diseaseFromSourceId": "C1866077", "diseaseFromSourceMappedId": "MONDO_0011163", "variantHgvsId": "NC_000001.11:g.201062066G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Malignant hyperthermia, susceptibility to, 5", "diseaseFromSourceId": "C1866077", "diseaseFromSourceMappedId": "EFO_0009071", "variantHgvsId": "NC_000001.11:g.201062066G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001454495", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464352", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_110781819_G_A", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110781819G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001466478", "targetFromSourceId": "ENSG00000187566", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_18122583_G_A", "cohortPhenotypes": ["EPILEPSY, PROGRESSIVE MYOCLONIC, 2A", "Epilepsy progressive myoclonic 2", "Lafora body disorder", "Lafora disease", "Myoclonic epilepsy of Lafora"], "diseaseFromSource": "Lafora disease", "diseaseFromSourceId": "C0751783", "diseaseFromSourceMappedId": "MONDO_0009697", "variantHgvsId": "NC_000006.12:g.18122583G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "MONDO_0010233", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "Orphanet_98892", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Melnick-Needles syndrome", "diseaseFromSourceId": "C0025237", "diseaseFromSourceMappedId": "Orphanet_2484", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154359501C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479417", "targetFromSourceId": "ENSG00000165282", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_35094253_T_C", "cohortPhenotypes": ["GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6", "Hyperphosphatasia with intellectual disability syndrome 2"], "diseaseFromSource": "Hyperphosphatasia with intellectual disability syndrome 2", "diseaseFromSourceId": "C3553637", "variantHgvsId": "NC_000009.12:g.35094253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479696", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_189010227_G_A", "variantRsId": "rs1688690801", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.189010227G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001489150", "targetFromSourceId": "ENSG00000038002", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "4_177438735_G_A", "cohortPhenotypes": ["AGA deficiency", "Aspartylglucos-amidase (AGA) deficiency", "Aspartylglucos-aminuria", "Aspartylglucosaminuria", "Aspartylglycosaminuria", "GLYCOASPARAGINASE", "Glycosylasparaginase deficiency"], "diseaseFromSource": "Aspartylglucosaminuria", "diseaseFromSourceId": "C0268225", "diseaseFromSourceMappedId": "MONDO_0008830", "variantHgvsId": "NC_000004.12:g.177438735G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001493569", "targetFromSourceId": "ENSG00000167895", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_78140898_G_A", "cohortPhenotypes": ["Epidermodysplasia verruciformis"], "diseaseFromSource": "Epidermodysplasia verruciformis", "diseaseFromSourceId": "C0014522", "diseaseFromSourceMappedId": "MONDO_0009176", "variantHgvsId": "NC_000017.11:g.78140898G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001495057", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_42464792_A_G", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42464792A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C4225334", "diseaseFromSourceMappedId": "MONDO_0014629", "variantHgvsId": "NC_000001.11:g.160291371T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C4225334", "diseaseFromSourceMappedId": "EFO_0004244", "variantHgvsId": "NC_000001.11:g.160291371T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001829854", "targetFromSourceId": "ENSG00000081052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "2_227094124_C_T", "variantRsId": "rs1553676230", "cohortPhenotypes": ["Alport syndrome", "Congenital hereditary hematuria", "Hemorrhagic familial nephritis", "Hemorrhagic hereditary nephritis"], "diseaseFromSource": "Alport syndrome", "diseaseFromSourceId": "C1567741", "diseaseFromSourceMappedId": "MONDO_0018965", "variantHgvsId": "NC_000002.12:g.227094124C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19405096"], "studyId": "RCV000003131", "targetFromSourceId": "ENSG00000166311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_6393961_A_C", "variantRsId": "rs267607074", "cohortPhenotypes": ["ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE", "ASMD, NEUROVISCERAL TYPE", "Niemann-Pick disease, type A", "SPHINGOMYELIN LIPIDOSIS", "SPHINGOMYELINASE DEFICIENCY"], "diseaseFromSource": "Niemann-Pick disease, type A", "diseaseFromSourceId": "C0268242", "diseaseFromSourceMappedId": "MONDO_0009756", "variantHgvsId": "NC_000011.10:g.6393961A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11297544", "1684223", "23847139", "8202715"], "studyId": "RCV000014051", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42721781_A_G", "variantRsId": "rs121918563", "cohortPhenotypes": ["Retinitis pigmentosa 7, digenic"], "diseaseFromSource": "Retinitis pigmentosa 7, digenic", "diseaseFromSourceId": "C2675552", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000006.12:g.42721781A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment and thin corpus callosum", "Nakamura Osame syndrome", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "MONDO_0011445", "variantHgvsId": "NC_000015.10:g.44628785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment and thin corpus callosum", "Nakamura Osame syndrome", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "Orphanet_685", "variantHgvsId": "NC_000015.10:g.44628785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000131784", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_132591266_A_G", "variantRsId": "rs587782563", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591266A>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000132814", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "X_154029506_A_C", "variantRsId": "rs187614438", "cohortPhenotypes": ["Austism susceptibility, X-linked", "Autism susceptibility, X-linked 3", "Autism, susceptibility to, X-linked 3"], "diseaseFromSource": "Autism, susceptibility to, X-linked 3", "diseaseFromSourceId": "C1845336", "diseaseFromSourceMappedId": "EFO_0003758", "variantHgvsId": "NC_000023.11:g.154029506A>C"} -{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000162201", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "X_147912049_C_CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG", "variantRsId": "rs193922936", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147912051CGG[201]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000240662", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68933854_C_T", "variantRsId": "rs780594709", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2S", "diseaseFromSourceId": "C4015349", "variantHgvsId": "NC_000011.10:g.68933854C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000258143", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60862317_A_G", "variantRsId": "rs780161032", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60862317A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000262741", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297988", "targetFromSourceId": "ENSG00000142156", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_45990405_G_A", "variantRsId": "rs200835287", "cohortPhenotypes": ["Collagen 6-related myopathy", "Collagen VI-related myopathy"], "diseaseFromSource": "Collagen 6-related myopathy", "diseaseFromSourceId": "CN117976", "diseaseFromSourceMappedId": "MONDO_0100225", "variantHgvsId": "NC_000021.9:g.45990405G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000312067", "targetFromSourceId": "ENSG00000104044", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_28014907_G_A", "variantRsId": "rs1800401", "cohortPhenotypes": ["ALBINISM II", "Albinism 2", "Albinism, oculocutaneous, type II", "Albinoidism", "Tyrosinase-positive oculocutaneous albinism"], "diseaseFromSource": "Tyrosinase-positive oculocutaneous albinism", "diseaseFromSourceId": "C0268495", "diseaseFromSourceMappedId": "MONDO_0008746", "variantHgvsId": "NC_000015.10:g.28014907G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000319651", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Limb-Girdle Muscular Dystrophy, Recessive"], "diseaseFromSource": "Limb-Girdle Muscular Dystrophy, Recessive", "diseaseFromSourceId": "CN239352", "diseaseFromSourceMappedId": "MONDO_0015152", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000331537", "targetFromSourceId": "ENSG00000196628", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "18_55585355_A_G", "variantRsId": "rs148658897", "cohortPhenotypes": ["ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION", "MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION", "Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea", "Pitt-Hopkins syndrome"], "diseaseFromSource": "Pitt-Hopkins syndrome", "diseaseFromSourceId": "C1970431", "diseaseFromSourceMappedId": "MONDO_0012589", "variantHgvsId": "NC_000018.10:g.55585355A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "MONDO_0012110", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "Orphanet_73272", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000394523", "targetFromSourceId": "ENSG00000165029", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_104837109_G_A", "variantRsId": "rs2297399", "cohortPhenotypes": ["Hypoalphalipoproteinemia, primary, 1"], "diseaseFromSource": "Hypoalphalipoproteinemia, primary, 1", "diseaseFromSourceId": "C5231558", "diseaseFromSourceMappedId": "MONDO_0100189", "variantHgvsId": "NC_000009.12:g.104837109G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000454126", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71617296_C_T", "variantRsId": "rs778251205", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 12", "Deafness, autosomal recessive 12"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832394", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000010.11:g.71617296C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000458724", "targetFromSourceId": "ENSG00000107779", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_86912268_C_T", "variantRsId": "rs587782231", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000010.11:g.86912268C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468059", "targetFromSourceId": "ENSG00000134371", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_193203811_G_A", "variantRsId": "rs149875598", "cohortPhenotypes": ["CDC73-Related Parathyroid Carcinoma", "Parathyroid cancer", "Parathyroid carcinoma"], "diseaseFromSource": "Parathyroid carcinoma", "diseaseFromSourceId": "C0687150", "diseaseFromSourceMappedId": "EFO_1001087", "variantHgvsId": "NC_000001.11:g.193203811G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475235", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_89970393_C_A", "variantRsId": "rs1060503475", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970393C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476699", "targetFromSourceId": "ENSG00000078328", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_7518261_C_T", "variantRsId": "rs151214012", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.7518261C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Hypertrophic cardiomyopathy 11", "diseaseFromSourceId": "C2677506", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000015.10:g.34792524A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Hypertrophic cardiomyopathy 11", "diseaseFromSourceId": "C2677506", "diseaseFromSourceMappedId": "MONDO_0012799", "variantHgvsId": "NC_000015.10:g.34792524A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Dilated cardiomyopathy 1R", "diseaseFromSourceId": "C3150681", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000015.10:g.34792524A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Atrial septal defect 5", "diseaseFromSourceId": "C2748552", "diseaseFromSourceMappedId": "EFO_1000825", "variantHgvsId": "NC_000015.10:g.34792524A>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000504821", "targetFromSourceId": "ENSG00000188452", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_181604002_G_T", "variantRsId": "rs569826109", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000002.12:g.181604002G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000525507", "targetFromSourceId": "ENSG00000054654", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_63967778_C_T", "variantRsId": "rs374073818", "cohortPhenotypes": ["EMERY-DREIFUSS MUSCULAR DYSTROPHY 5", "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "diseaseFromSourceId": "C2751805", "diseaseFromSourceMappedId": "MONDO_0016830", "variantHgvsId": "NC_000014.9:g.63967778C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000540285", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_23425357_C_A", "variantRsId": "rs397516142", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23425357C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000545691", "targetFromSourceId": "ENSG00000070748", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_49625509_G_A", "variantRsId": "rs114090981", "cohortPhenotypes": ["Congenital myasthenic syndrome 6", "Congenital myasthenic syndrome with episodic apnea", "FIMG2 (formerly)", "Familial infantile myasthenia", "MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC", "Myasthenic syndrome congenital associated with episodic apnea", "Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea"], "diseaseFromSource": "Familial infantile myasthenia", "diseaseFromSourceId": "C0393929", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000010.11:g.49625509G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000555260", "targetFromSourceId": "ENSG00000142208", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_104780089_C_T", "variantRsId": "rs560243859", "cohortPhenotypes": ["Cowden syndrome 6"], "diseaseFromSource": "Cowden syndrome 6", "diseaseFromSourceId": "C3554519", "diseaseFromSourceMappedId": "MONDO_0016063", "variantHgvsId": "NC_000014.9:g.104780089C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000567185", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11058800_A_G", "variantRsId": "rs587778684", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000019.10:g.11058800A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000620000", "targetFromSourceId": "ENSG00000101605", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_3215133_G_T", "variantRsId": "rs76382984", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000018.10:g.3215133G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78015811A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78015811A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78015811A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78015811A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78015811A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78015811A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000642141", "targetFromSourceId": "ENSG00000171723", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_66681128_A_G", "variantRsId": "rs144247888", "cohortPhenotypes": ["Molybdenum cofactor deficiency C", "Molybdenum cofactor deficiency, complementation group C", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"], "diseaseFromSource": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "diseaseFromSourceId": "C1854990", "diseaseFromSourceMappedId": "Orphanet_833", "variantHgvsId": "NC_000014.9:g.66681128A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000642141", "targetFromSourceId": "ENSG00000171723", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_66681128_A_G", "variantRsId": "rs144247888", "cohortPhenotypes": ["Molybdenum cofactor deficiency C", "Molybdenum cofactor deficiency, complementation group C", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"], "diseaseFromSource": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "diseaseFromSourceId": "C1854990", "diseaseFromSourceMappedId": "MONDO_0014212", "variantHgvsId": "NC_000014.9:g.66681128A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000644532", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55039937_G_A", "variantRsId": "rs371030381", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039937G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000655236", "targetFromSourceId": "ENSG00000148400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136496841_C_T", "variantRsId": "rs587778573", "cohortPhenotypes": ["Adams-Oliver syndrome 5"], "diseaseFromSource": "Adams-Oliver syndrome 5", "diseaseFromSourceId": "C4014970", "diseaseFromSourceMappedId": "MONDO_0007034", "variantHgvsId": "NC_000009.12:g.136496841C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687401", "targetFromSourceId": "ENSG00000065534", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_123640393_G_C", "variantRsId": "rs1399378417", "cohortPhenotypes": ["AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM", "Aortic aneurysm, familial thoracic 7"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 7", "diseaseFromSourceId": "C3151077", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000003.12:g.123640393G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68823467C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68823467C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000717259", "targetFromSourceId": "ENSG00000198198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_43424857_A_G", "variantRsId": "rs749314293", "cohortPhenotypes": ["Seizure", "Seizures"], "diseaseFromSource": "Seizure", "diseaseFromSourceId": "C0036572", "diseaseFromSourceMappedId": "HP_0001250", "variantHgvsId": "NC_000001.11:g.43424857A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000790882", "targetFromSourceId": "ENSG00000112761", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_112061190_G_A", "variantRsId": "rs147337485", "cohortPhenotypes": ["Autosomal recessive spondyloepiphyseal dysplasia tarda", "Progressive Pseudorheumatoid Arthropathy of Childhood", "Progressive pseudorheumatoid dysplasia", "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY", "Spondyloepiphyseal dysplasia tarda progressive arthropathy"], "diseaseFromSource": "Progressive pseudorheumatoid dysplasia", "diseaseFromSourceId": "C0432215", "diseaseFromSourceMappedId": "MONDO_0008827", "variantHgvsId": "NC_000006.12:g.112061190G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000792965", "targetFromSourceId": "ENSG00000115085", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_97734565_C_T", "variantRsId": "rs903840321", "cohortPhenotypes": ["ZAP70-Related Severe Combined Immunodeficiency"], "diseaseFromSource": "ZAP70-Related Severe Combined Immunodeficiency", "diseaseFromSourceId": "C2931299", "diseaseFromSourceMappedId": "MONDO_0010023", "variantHgvsId": "NC_000002.12:g.97734565C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000800851", "targetFromSourceId": "ENSG00000188157", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_1043265_G_A", "variantRsId": "rs148949051", "cohortPhenotypes": ["Congenital myasthenic syndrome 8", "MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY", "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"], "diseaseFromSource": "Congenital myasthenic syndrome 8", "diseaseFromSourceId": "C3808739", "variantHgvsId": "NC_000001.11:g.1043265G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000806813", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_90749723_A_G", "variantRsId": "rs749633106", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90749723A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000809549", "targetFromSourceId": "ENSG00000100150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_31879595_G_C", "variantRsId": "rs1602677998", "cohortPhenotypes": ["Familial focal epilepsy with variable foci"], "diseaseFromSource": "Familial focal epilepsy with variable foci", "diseaseFromSourceId": "C1858477", "diseaseFromSourceMappedId": "MONDO_0020310", "variantHgvsId": "NC_000022.11:g.31879595G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "MONDO_0013921", "variantHgvsId": "NC_000019.10:g.4816746C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "Orphanet_1930", "variantHgvsId": "NC_000019.10:g.4816746C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000818650", "targetFromSourceId": "ENSG00000245848", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_33301525_C_A", "variantRsId": "rs1600021258", "cohortPhenotypes": ["AML adult", "Acute granulocytic leukemia", "Acute myelogenous leukemia", "Acute myeloid leukemia", "Acute myeloid leukemia, adult", "Acute non-lymphocytic leukemia", "Leukemia, acute myelogenous, somatic", "Leukemia, acute myeloid, somatic"], "diseaseFromSource": "Acute myeloid leukemia", "diseaseFromSourceId": "C0023467", "diseaseFromSourceMappedId": "EFO_0000222", "variantHgvsId": "NC_000019.10:g.33301525C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000820449", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "1_55039879_A_ACTGCTGCTGCTG", "variantRsId": "rs35574083", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039882GCT[11]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "MONDO_0012256", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "Orphanet_101008", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178725603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178725603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178725603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000876785", "targetFromSourceId": "ENSG00000115267", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_162281445_A_G", "variantRsId": "rs138740030", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 7", "Singleton-Merten syndrome 1", "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"], "diseaseFromSource": "Singleton-Merten syndrome 1", "diseaseFromSourceId": "C4225427", "diseaseFromSourceMappedId": "MONDO_0008429", "variantHgvsId": "NC_000002.12:g.162281445A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000876785", "targetFromSourceId": "ENSG00000115267", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_162281445_A_G", "variantRsId": "rs138740030", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 7", "Singleton-Merten syndrome 1", "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"], "diseaseFromSource": "Aicardi-Goutieres syndrome 7", "diseaseFromSourceId": "C3888244", "diseaseFromSourceMappedId": "Orphanet_51", "variantHgvsId": "NC_000002.12:g.162281445A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "MONDO_0013656", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000002.12:g.240767003G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000880956", "targetFromSourceId": "ENSG00000092621", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_119723381_C_G", "variantRsId": "rs182600362", "cohortPhenotypes": ["PHGDH deficiency", "Phosphoglycerate dehydrogenase deficiency"], "diseaseFromSource": "PHGDH deficiency", "diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "MONDO_0011152", "variantHgvsId": "NC_000001.11:g.119723381C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000880956", "targetFromSourceId": "ENSG00000092621", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_119723381_C_G", "variantRsId": "rs182600362", "cohortPhenotypes": ["PHGDH deficiency", "Phosphoglycerate dehydrogenase deficiency"], "diseaseFromSource": "PHGDH deficiency", "diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "Orphanet_79351", "variantHgvsId": "NC_000001.11:g.119723381C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "Orphanet_401948", "variantHgvsId": "NC_000016.10:g.87926844G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "MONDO_0014332", "variantHgvsId": "NC_000016.10:g.87926844G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000921425", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_87925528_G_A", "variantRsId": "rs972166984", "cohortPhenotypes": ["PTEN Hamartomatous Tumour Syndrome", "PTEN hamartoma tumor syndrome"], "diseaseFromSource": "PTEN hamartoma tumor syndrome", "diseaseFromSourceId": "C1959582", "diseaseFromSourceMappedId": "MONDO_0017623", "variantHgvsId": "NC_000010.11:g.87925528G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000932997", "targetFromSourceId": "ENSG00000157540", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "21_37512066_TCACCACCACCAC_T", "variantRsId": "rs760576043", "cohortPhenotypes": ["DYRK1A-related intellectual disability syndrome", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7"], "diseaseFromSource": "DYRK1A-related intellectual disability syndrome", "diseaseFromSourceId": "C3279839", "diseaseFromSourceMappedId": "MONDO_0013578", "variantHgvsId": "NC_000021.9:g.37512069_37512071CCA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.1206297C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Hyperaldosteronism, familial, type IV", "diseaseFromSourceId": "C4310756", "diseaseFromSourceMappedId": "MONDO_0016525", "variantHgvsId": "NC_000016.10:g.1206297C>A"} -{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001002824", "targetFromSourceId": "ENSG00000198691", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_94021404_C_G", "variantRsId": "rs61752439", "cohortPhenotypes": ["Fundus flavimaculatus", "Stargardt disease", "Stargardt's disease"], "diseaseFromSource": "Stargardt disease", "diseaseFromSourceId": "C0271093", "diseaseFromSourceMappedId": "MONDO_0019353", "variantHgvsId": "NC_000001.11:g.94021404C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010349", "targetFromSourceId": "ENSG00000073578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_223538_C_T", "variantRsId": "rs1579379803", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.223538C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027575", "targetFromSourceId": "ENSG00000027697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_137204354_TA_T", "variantRsId": "rs749956849", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000006.12:g.137204355del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036456", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133258416_T_C", "variantRsId": "rs762263620", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133258416T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036970", "targetFromSourceId": "ENSG00000183454", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_9938137_T_C", "variantRsId": "rs376979811", "cohortPhenotypes": ["APHASIA, ACQUIRED, WITH EPILEPSY", "Acquired aphasia with convulsive disorder", "Acquired epileptiform aphasia", "EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT", "Epilepsy with neurodevelopmental defects", "GRIN2A-Related Disorders", "Landau-Kleffner syndrome", "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant"], "diseaseFromSource": "Landau-Kleffner syndrome", "diseaseFromSourceId": "C3806402", "diseaseFromSourceMappedId": "EFO_1001010", "variantHgvsId": "NC_000016.10:g.9938137T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001038401", "targetFromSourceId": "ENSG00000143632", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_229432792_A_AT", "variantRsId": "rs1571893878", "cohortPhenotypes": ["Actin accumulation myopathy", "Nemaline myopathy 3", "Nemaline myopathy caused by mutation in the alpha-actin gene"], "diseaseFromSource": "Actin accumulation myopathy", "diseaseFromSourceId": "C3711389", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000001.11:g.229432793dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001039768", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132625692_C_G", "variantRsId": "rs1060500871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132625692C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044664", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_82091018_C_T", "variantRsId": "rs775845460", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82091018C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_163681", "variantHgvsId": "NC_000007.14:g.148229669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_221150", "variantHgvsId": "NC_000007.14:g.148229669C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050174", "targetFromSourceId": "ENSG00000106462", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148846484_G_A", "variantRsId": "rs141583753", "cohortPhenotypes": ["Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly", "Weaver Smith syndrome", "Weaver syndrome"], "diseaseFromSource": "Weaver syndrome", "diseaseFromSourceId": "C0265210", "diseaseFromSourceMappedId": "MONDO_0010193", "variantHgvsId": "NC_000007.14:g.148846484G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65538242G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65538242G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001052705", "targetFromSourceId": "ENSG00000167286", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_118340537_T_C", "variantRsId": "rs1346172061", "cohortPhenotypes": ["CD3-DELTA DEFICIENCY", "Immunodeficiency 19", "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE"], "diseaseFromSource": "Immunodeficiency 19", "diseaseFromSourceId": "C3810147", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000011.10:g.118340537T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001055216", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108251072_G_T", "variantRsId": "rs769788188", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108251072G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001056107", "targetFromSourceId": "ENSG00000103150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_83899641_C_T", "variantRsId": "rs774598772", "cohortPhenotypes": ["Deficiency of malonyl-CoA decarboxylase", "MCD deficiency", "Malonic acidemia", "Malonic aciduria"], "diseaseFromSource": "Deficiency of malonyl-CoA decarboxylase", "diseaseFromSourceId": "C0342793", "diseaseFromSourceMappedId": "MONDO_0009556", "variantHgvsId": "NC_000016.10:g.83899641C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001067011", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99851113_G_C", "variantRsId": "rs772905291", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99851113G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001074281", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129532306_C_A", "variantRsId": "rs765931092", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000003.12:g.129532306C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107460", "targetFromSourceId": "ENSG00000110756", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_18295112_A_G", "variantRsId": "rs150590027", "cohortPhenotypes": ["Hermansky-Pudlak syndrome 5"], "diseaseFromSource": "Hermansky-Pudlak syndrome 5", "diseaseFromSourceId": "C3888004", "diseaseFromSourceMappedId": "MONDO_0016502", "variantHgvsId": "NC_000011.10:g.18295112A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148014", "targetFromSourceId": "ENSG00000168827", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_158645740_C_A", "variantRsId": "rs62286651", "cohortPhenotypes": ["Combined oxidative phosphorylation deficiency 1", "HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE", "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"], "diseaseFromSource": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "diseaseFromSourceId": "C1836797", "diseaseFromSourceMappedId": "Orphanet_137681", "variantHgvsId": "NC_000003.12:g.158645740C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "MONDO_0008695", "variantHgvsId": "NC_000009.12:g.77219947T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "Orphanet_2388", "variantHgvsId": "NC_000009.12:g.77219947T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169454", "targetFromSourceId": "ENSG00000119121", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_74840057_C_T", "variantRsId": "rs150874152", "cohortPhenotypes": ["HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA", "HYPOMAGNESEMIC TETANY", "Intestinal hypomagnesemia 1"], "diseaseFromSource": "Intestinal hypomagnesemia 1", "diseaseFromSourceId": "C1865974", "diseaseFromSourceMappedId": "MONDO_0011176", "variantHgvsId": "NC_000009.12:g.74840057C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001188935", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "10_87960884_T_C", "variantRsId": "rs1270511778", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000010.11:g.87960884T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001190260", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585543_G_A", "variantRsId": "rs376751288", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000006.12:g.7585543G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202070", "targetFromSourceId": "ENSG00000196998", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_49075418_T_G", "variantRsId": "rs2065031040", "cohortPhenotypes": ["Beta-propeller protein-associated neurodegeneration", "Neurodegeneration with brain iron accumulation 5", "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD"], "diseaseFromSource": "Neurodegeneration with brain iron accumulation 5", "diseaseFromSourceId": "C3550973", "diseaseFromSourceMappedId": "MONDO_0010476", "variantHgvsId": "NC_000023.11:g.49075418T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "MONDO_0013656", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000002.12:g.240722591C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203411", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_2884842_C_T", "variantRsId": "rs1848929968", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884842C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203905", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_42460008_G_A", "variantRsId": "rs1937743406", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42460008G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001204459", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81908423_C_T", "variantRsId": "rs72824905", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81908423C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001206617", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165313705_T_C", "variantRsId": "rs1697569337", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165313705T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001206617", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165313705_T_C", "variantRsId": "rs1697569337", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 11", "diseaseFromSourceId": "C3150987", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165313705T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001208658", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_82087051_C_T", "variantRsId": "rs761637918", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82087051C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165354483G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 11", "diseaseFromSourceId": "C3150987", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165354483G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001214622", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "Orphanet_98908", "variantHgvsId": "NC_000011.10:g.823734dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001214622", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "MONDO_0012545", "variantHgvsId": "NC_000011.10:g.823734dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "MONDO_0009892", "variantHgvsId": "NC_000003.12:g.10142092G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "Orphanet_90042", "variantHgvsId": "NC_000003.12:g.10142092G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Von Hippel-Lindau syndrome", "diseaseFromSourceId": "C0019562", "diseaseFromSourceMappedId": "MONDO_0008667", "variantHgvsId": "NC_000003.12:g.10142092G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001220807", "targetFromSourceId": "ENSG00000022267", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_136206494_A_G", "variantRsId": "rs1187549360", "cohortPhenotypes": ["X-linked myopathy with postural muscle atrophy"], "diseaseFromSource": "X-linked myopathy with postural muscle atrophy", "diseaseFromSourceId": "C2678055", "diseaseFromSourceMappedId": "MONDO_0010401", "variantHgvsId": "NC_000023.11:g.136206494A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001226988", "targetFromSourceId": "ENSG00000110274", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_117363444_A_G", "variantRsId": "rs777527578", "cohortPhenotypes": ["Nephronophthisis 15"], "diseaseFromSource": "Nephronophthisis 15", "diseaseFromSourceId": "C3541853", "diseaseFromSourceMappedId": "MONDO_0017842", "variantHgvsId": "NC_000011.10:g.117363444A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232017", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2087931_G_T", "variantRsId": "rs200700923", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2087931G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63189337T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63189337T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001233569", "targetFromSourceId": "ENSG00000198003", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11423877_G_C", "variantRsId": "rs1361894803", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 30"], "diseaseFromSource": "Primary ciliary dyskinesia 30", "diseaseFromSourceId": "C4015016", "variantHgvsId": "NC_000019.10:g.11423877G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236792", "targetFromSourceId": "ENSG00000106617", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_151781271_C_T", "variantRsId": "rs369471907", "cohortPhenotypes": ["GLYCOGEN STORAGE DISEASE OF HEART", "Lethal congenital glycogen storage disease of heart", "PHOSPHORYLASE KINASE DEFICIENCY OF HEART"], "diseaseFromSource": "Lethal congenital glycogen storage disease of heart", "diseaseFromSourceId": "C1849813", "diseaseFromSourceMappedId": "MONDO_0009867", "variantHgvsId": "NC_000007.14:g.151781271C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001242233", "targetFromSourceId": "ENSG00000005339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3757313_C_T", "variantRsId": "rs2052609627", "cohortPhenotypes": ["Broad thumb-hallux syndrome", "Rubinstein-Taybi syndrome"], "diseaseFromSource": "Rubinstein-Taybi syndrome", "diseaseFromSourceId": "C0035934", "diseaseFromSourceMappedId": "MONDO_0019188", "variantHgvsId": "NC_000016.10:g.3757313C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1592176C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1592176C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Retinitis pigmentosa 80", "diseaseFromSourceId": "C4540439", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000016.10:g.1592176C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001257226", "targetFromSourceId": "ENSG00000101306", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_31820482_G_A", "variantRsId": "rs1278523169", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 1", "Hypertrophic cardiomyopathy 1", "MYH7-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 1", "diseaseFromSourceId": "C3495498", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000020.11:g.31820482G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266493", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_23420200_G_GCCTCCAGCTCCT", "variantRsId": "rs1064792935", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000014.9:g.23420202CTCCAGCTCCTC[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001273385", "targetFromSourceId": "ENSG00000150275", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_53866837_G_T", "variantRsId": "rs753725514", "cohortPhenotypes": ["USHER SYNDROME, TYPE IF", "Usher syndrome type 1F"], "diseaseFromSource": "Usher syndrome type 1F", "diseaseFromSourceId": "C1865885", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.53866837G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279515", "targetFromSourceId": "ENSG00000070061", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_108929931_A_G", "variantRsId": "rs768610434", "cohortPhenotypes": ["FD", "Familial dysautonomia", "HSAN 3", "HSAN III", "HSN 3", "Hereditary sensory and autonomic neuropathy 3", "Hereditary sensory neuropathy type 3", "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III", "Riley Day syndrome"], "diseaseFromSource": "Familial dysautonomia", "diseaseFromSourceId": "C0013364", "diseaseFromSourceMappedId": "Orphanet_1764", "variantHgvsId": "NC_000009.12:g.108929931A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001294696", "targetFromSourceId": "ENSG00000112319", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_133468630_A_G", "variantRsId": "rs1795052577", "cohortPhenotypes": ["CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT", "Dilated cardiomyopathy 1J"], "diseaseFromSource": "Dilated cardiomyopathy 1J", "diseaseFromSourceId": "C1854368", "diseaseFromSourceMappedId": "Orphanet_217622", "variantHgvsId": "NC_000006.12:g.133468630A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001298532", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_132591382_A_G", "variantRsId": "rs1322845292", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591382A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300402", "targetFromSourceId": "ENSG00000104450", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_100213182_A_C", "variantRsId": "rs1246342969", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 28"], "diseaseFromSource": "Primary ciliary dyskinesia 28", "diseaseFromSourceId": "C3809706", "variantHgvsId": "NC_000008.11:g.100213182A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "Orphanet_317425", "variantHgvsId": "NC_000008.11:g.47837340A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "MONDO_0014423", "variantHgvsId": "NC_000008.11:g.47837340A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES"], "diseaseFromSource": "Intellectual disability, autosomal dominant 6", "diseaseFromSourceId": "C3151411", "variantHgvsId": "NC_000012.12:g.13562994G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 27", "diseaseFromSourceId": "C4015316", "diseaseFromSourceMappedId": "Orphanet_3451", "variantHgvsId": "NC_000012.12:g.13562994G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309755", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_30623057_G_C", "variantRsId": "rs4820889", "cohortPhenotypes": ["TC II DEFICIENCY", "TCN2 DEFICIENCY", "Transcobalamin II deficiency", "Transcolabamin II deficiency"], "diseaseFromSource": "Transcobalamin II deficiency", "diseaseFromSourceId": "C0342701", "diseaseFromSourceMappedId": "Orphanet_859", "variantHgvsId": "NC_000022.11:g.30623057G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001316006", "targetFromSourceId": "ENSG00000177663", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_17108508_G_C", "variantRsId": "rs192300437", "cohortPhenotypes": ["CANDIDIASIS, FAMILIAL, 5", "Immunodeficiency 51"], "diseaseFromSource": "Immunodeficiency 51", "diseaseFromSourceId": "C4310803", "diseaseFromSourceMappedId": "MONDO_0013500", "variantHgvsId": "NC_000022.11:g.17108508G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "MONDO_0012034", "variantHgvsId": "NC_000007.14:g.129005130A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "Orphanet_55595", "variantHgvsId": "NC_000007.14:g.129005130A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318909", "targetFromSourceId": "ENSG00000081189", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_88761241_T_C", "variantRsId": "rs1777713411", "cohortPhenotypes": ["Intellectual disability, autosomal dominant 20", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 20", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE"], "diseaseFromSource": "Intellectual disability, autosomal dominant 20", "diseaseFromSourceId": "C3150700", "variantHgvsId": "NC_000005.10:g.88761241T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001320507", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108229236_G_A", "variantRsId": "rs1412024666", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108229236G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001325854", "targetFromSourceId": "ENSG00000062822", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_50403111_C_G", "variantRsId": "rs759213871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q", "Colorectal cancer 10", "Colorectal cancer, susceptibility to, 10"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 10", "diseaseFromSourceId": "C2675481", "diseaseFromSourceMappedId": "EFO_0005842", "variantHgvsId": "NC_000019.10:g.50403111C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63186253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63186253T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001345082", "targetFromSourceId": "ENSG00000101204", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63350627_C_T", "variantRsId": "rs150082508", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy", "diseaseFromSourceId": "C3696898", "diseaseFromSourceMappedId": "MONDO_0020300", "variantHgvsId": "NC_000020.11:g.63350627C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001350975", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_51054866_A_C", "variantRsId": "rs1203141844", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51054866A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001351367", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2085246_G_T", "variantRsId": "rs769834772", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2085246G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001352157", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_68210415_C_T", "variantRsId": "rs781048271", "cohortPhenotypes": ["Dilated cardiomyopathy 1KK"], "diseaseFromSource": "Dilated cardiomyopathy 1KK", "diseaseFromSourceId": "C3714995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.68210415C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361662", "targetFromSourceId": "ENSG00000196296", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_28900872_A_C", "cohortPhenotypes": ["BRODY DISEASE", "Brody myopathy"], "diseaseFromSource": "Brody myopathy", "diseaseFromSourceId": "C1832918", "diseaseFromSourceMappedId": "MONDO_0010977", "variantHgvsId": "NC_000016.10:g.28900872A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80195553T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80195553T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373298", "targetFromSourceId": "ENSG00000155980", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57578284_A_G", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57578284A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Autosomal dominant hypocalcemia 1", "diseaseFromSourceId": "C0342345", "variantHgvsId": "NC_000003.12:g.122275959G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Familial hypocalciuric hypercalcemia", "diseaseFromSourceId": "C1809471", "diseaseFromSourceMappedId": "MONDO_0018458", "variantHgvsId": "NC_000003.12:g.122275959G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001378744", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGT", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001386995", "targetFromSourceId": "ENSG00000160789", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_156136375_TG_T", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.156136377del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001397542", "targetFromSourceId": "ENSG00000171298", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80118365_C_A", "cohortPhenotypes": ["ACID ALPHA-GLUCOSIDASE DEFICIENCY", "Acid maltase deficiency disease", "Aglucosidase alfa", "Alpha-1,4-glucosidase deficiency", "Cardiomegalia glycogenica diffusa", "Deficiency of alpha-glucosidase", "Deficiency of lysosomal alpha-glucosidase", "GLYCOGENOSIS, GENERALIZED, CARDIAC FORM", "GSD II", "Glycogen Storage Disease Type II (Pompe Disease)", "Glycogen storage disease type 2", "Glycogen storage disease, type II"], "diseaseFromSource": "Glycogen storage disease, type II", "diseaseFromSourceId": "C0017921", "diseaseFromSourceMappedId": "Orphanet_365", "variantHgvsId": "NC_000017.11:g.80118365C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001403013", "targetFromSourceId": "ENSG00000101347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_36911288_T_C", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 5"], "diseaseFromSource": "Aicardi-Goutieres syndrome 5", "diseaseFromSourceId": "C2749659", "variantHgvsId": "NC_000020.11:g.36911288T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "MONDO_0009458", "variantHgvsId": "NC_000002.12:g.216450935G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "Orphanet_1830", "variantHgvsId": "NC_000002.12:g.216450935G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141579091C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141579091C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141579091C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407545", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31519811_C_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10", "Arrhythmogenic right ventricular cardiomyopathy, type 10", "Arrhythmogenic right ventricular dysplasia 10", "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 10", "diseaseFromSourceId": "C1857777", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000018.10:g.31519811C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001410350", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCC", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[7]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "targetFromSourceId": "ENSG00000108556", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_4899476_G_A", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "targetFromSourceId": "ENSG00000205710", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_4899476_G_A", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001422989", "targetFromSourceId": "ENSG00000139687", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "13_48379596_A_T", "cohortPhenotypes": ["Eye cancer, retinoblastoma", "RETINOBLASTOMA, SOMATIC", "Retinoblastoma"], "diseaseFromSource": "Retinoblastoma", "diseaseFromSourceId": "C0035335", "diseaseFromSourceMappedId": "MONDO_0008380", "variantHgvsId": "NC_000013.11:g.48379596A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001425620", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81786077_G_T", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81786077G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430134", "targetFromSourceId": "ENSG00000138078", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_44326835_C_T", "cohortPhenotypes": ["Myasthenic syndrome, congenital, 22", "PREPL DEFICIENCY"], "diseaseFromSource": "Myasthenic syndrome, congenital, 22", "diseaseFromSourceId": "C4479088", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000002.12:g.44326835C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001442253", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_150947399_G_A", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.150947399G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "Orphanet_156", "variantHgvsId": "NC_000011.10:g.68799323T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "MONDO_0009705", "variantHgvsId": "NC_000011.10:g.68799323T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001457218", "targetFromSourceId": "ENSG00000184470", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19918970_G_A", "variantRsId": "rs575321083", "cohortPhenotypes": ["Dilated Cardiomyopathy", "Primary dilated cardiomyopathy"], "diseaseFromSource": "Primary dilated cardiomyopathy", "diseaseFromSourceId": "C0007193", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000022.11:g.19918970G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001460318", "targetFromSourceId": "ENSG00000197728", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_56042502_C_T", "cohortPhenotypes": ["Diamond-Blackfan anemia 10"], "diseaseFromSource": "Diamond-Blackfan anemia 10", "diseaseFromSourceId": "C2750080", "diseaseFromSourceMappedId": "Orphanet_124", "variantHgvsId": "NC_000012.12:g.56042502C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464082", "targetFromSourceId": "ENSG00000106976", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_128234044_G_A", "variantRsId": "rs968662562", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 31", "Epileptic encephalopathy, early infantile, 31"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 31", "diseaseFromSourceId": "C4225357", "diseaseFromSourceMappedId": "Orphanet_2382", "variantHgvsId": "NC_000009.12:g.128234044G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472009", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "14_23415841_C_G", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23415841C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178782223G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178782223G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178782223G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473659", "targetFromSourceId": "ENSG00000174775", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_534307_G_A", "variantRsId": "rs763376142", "cohortPhenotypes": ["Costello syndrome", "FCS syndrome", "Faciocutaneoskeletal syndrome"], "diseaseFromSource": "Costello syndrome", "diseaseFromSourceId": "C0587248", "diseaseFromSourceMappedId": "MONDO_0009026", "variantHgvsId": "NC_000011.10:g.534307G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "MONDO_0010233", "variantHgvsId": "NC_000023.11:g.154354843G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "Orphanet_98892", "variantHgvsId": "NC_000023.11:g.154354843G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Melnick-Needles syndrome", "diseaseFromSourceId": "C0025237", "diseaseFromSourceMappedId": "Orphanet_2484", "variantHgvsId": "NC_000023.11:g.154354843G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154354843G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154354843G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001481529", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_82088381_C_A", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82088381C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001483434", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133246619_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133246619G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001494713", "targetFromSourceId": "ENSG00000204406", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_148485878_G_A", "variantRsId": "rs572893308", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1", "Intellectual disability, autosomal dominant 1"], "diseaseFromSource": "Intellectual disability, autosomal dominant 1", "diseaseFromSourceId": "C1969562", "variantHgvsId": "NC_000002.12:g.148485878G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1568201C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1568201C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001501915", "targetFromSourceId": "ENSG00000177565", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_177026481_G_C", "cohortPhenotypes": ["Pierpont syndrome"], "diseaseFromSource": "Pierpont syndrome", "diseaseFromSourceId": "C1865644", "diseaseFromSourceMappedId": "MONDO_0011213", "variantHgvsId": "NC_000003.12:g.177026481G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001525476", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31521110_C_T", "variantRsId": "rs369489095", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31521110C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} -{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001806428", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63446818_A_C", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63446818A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001831355", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_35658027_A_AGCTTCACAGAGTAGTGCTTCACAGAGTAGT", "cohortPhenotypes": ["Cartilage-Hair Hypoplasia", "Metaphyseal chondrodysplasia, McKusick type"], "diseaseFromSource": "Metaphyseal chondrodysplasia, McKusick type", "diseaseFromSourceId": "C0220748", "diseaseFromSourceMappedId": "MONDO_0009595", "variantHgvsId": "NC_000009.11:g.35658025_35658039[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001832466", "targetFromSourceId": "ENSG00000278570", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_71811830_C_T", "variantRsId": "rs990307718", "cohortPhenotypes": ["Enhanced S-cone syndrome"], "diseaseFromSource": "Enhanced S-cone syndrome", "diseaseFromSourceId": "C1849394", "diseaseFromSourceMappedId": "MONDO_0100289", "variantHgvsId": "NC_000015.10:g.71811830C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001833776", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_36217484_G_T", "variantRsId": "rs139347806", "cohortPhenotypes": ["GNE myopathy", "GNE-Related Myopathies", "IBM 2", "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE", "Inclusion body myopathy 2", "Inclusion body myopathy autosomal recessive", "Inclusion body myopathy quadriceps sparing", "MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES", "Nonaka distal myopathy", "Nonaka myopathy"], "diseaseFromSource": "GNE myopathy", "diseaseFromSourceId": "C1853926", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36217484G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "MONDO_0011459", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Dyskeratosis congenita, autosomal recessive 5", "diseaseFromSourceId": "C3554656", "diseaseFromSourceMappedId": "MONDO_0014076", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "diseaseFromSourceId": "C4225346", "diseaseFromSourceMappedId": "EFO_1001501", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001951015", "targetFromSourceId": "ENSG00000160224", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "21_44293126_A_ACTCCTCGGCCCTGCACCCCCTT", "cohortPhenotypes": ["APS 1", "APS I", "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy syndrome, type I", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "PGA 1", "PGA I", "Polyglandular autoimmune syndrome, type 1", "Whitaker syndrome"], "diseaseFromSource": "Polyglandular autoimmune syndrome, type 1", "diseaseFromSourceId": "C0085859", "diseaseFromSourceMappedId": "Orphanet_3453", "variantHgvsId": "NC_000021.9:g.44293127_44293147CTC[2]GGCCCTGCACCCCCTTCTCCTCGGCCCTGCACCCCCT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001974720", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_73385925_G_GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73385926_73385942GAG[9]GAAGAGGAGGAGGAGGAGGA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001978896", "targetFromSourceId": "ENSG00000091483", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "1_241504247_T_TAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["Fumarase deficiency", "Fumarate Hydratase Deficiency", "Fumaric aciduria"], "diseaseFromSource": "Fumarase deficiency", "diseaseFromSourceId": "C0342770", "diseaseFromSourceMappedId": "MONDO_0011730", "variantHgvsId": "NC_000001.11:g.241504248_241504262AAAGA[2]A[4]TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "MONDO_0013839", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "Orphanet_314381", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "MONDO_0014180", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "Orphanet_304", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037939", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "17_31326182_T_TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31326183_31326188AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Jeune thoracic dystrophy", "diseaseFromSourceId": "C0265275", "diseaseFromSourceMappedId": "MONDO_0018770", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000488607", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Pulmonary hypertension, primary, 1"], "diseaseFromSource": "Pulmonary hypertension, primary, 1", "diseaseFromSourceId": "C4552070", "diseaseFromSourceMappedId": "EFO_0001361", "variantHgvsId": "NC_000002.12:g.202377525_202519014del141490"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000705609", "targetFromSourceId": "ENSG00000183337", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_40075123_T_A", "variantRsId": "rs61744882", "cohortPhenotypes": ["Microphthalmia cataracts radiculomegaly and septal heart defects", "Oculofaciocardiodental syndrome"], "diseaseFromSource": "Oculofaciocardiodental syndrome", "diseaseFromSourceId": "C1846265", "diseaseFromSourceMappedId": "MONDO_0010261", "variantHgvsId": "NC_000023.11:g.40075123T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000320492", "targetFromSourceId": "ENSG00000108821", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_50185886_C_G", "variantRsId": "rs886053159", "cohortPhenotypes": ["Osteogenesis imperfecta"], "diseaseFromSource": "Osteogenesis imperfecta", "diseaseFromSourceId": "C0029434", "diseaseFromSourceMappedId": "MONDO_0019019", "variantHgvsId": "NC_000017.11:g.50185886C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000618080", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_68122098_G_A", "variantRsId": "rs372218308", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000010.11:g.68122098G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000647147", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_110812366_TC_AG", "variantRsId": "rs1554842673", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110812366_110812367delinsAG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000802373", "targetFromSourceId": "ENSG00000120071", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_46170849_ACTC_A", "variantRsId": "rs1597870189", "cohortPhenotypes": ["KANSL1-Related Intellectual Disability Syndrome", "Koolen-de Vries syndrome"], "diseaseFromSource": "Koolen-de Vries syndrome", "diseaseFromSourceId": "C1864871", "diseaseFromSourceMappedId": "MONDO_0012496", "variantHgvsId": "NC_000017.11:g.46170850_46170852del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001520269", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "2_73601183_T_C", "variantRsId": "rs1320374", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73601183T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001553540", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_823863_C_G", "cohortPhenotypes": ["Muscle disorders", "Myopathy"], "diseaseFromSource": "Myopathy", "diseaseFromSourceId": "C0026848", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000011.10:g.823863C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000499412", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112827194_C_T", "variantRsId": "rs137854580", "cohortPhenotypes": ["Classic familial adenomatous polyposis", "Familial adenomatous polyposis", "Familial adenomatous polyposis of the colon", "Familial intestinal polyposis", "Familial multiple polyposis", "Familial multiple polyposis syndrome", "Familial polyposis", "Familial polyposis of the colon", "Hereditary polyposis coli"], "diseaseFromSource": "Familial multiple polyposis syndrome", "diseaseFromSourceId": "C0032580", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827194C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000004.12:g.3492943dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 10", "diseaseFromSourceId": "C1850792", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000004.12:g.3492943dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001100115", "targetFromSourceId": "ENSG00000142798", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_21841203_G_A", "variantRsId": "rs533824462", "cohortPhenotypes": ["Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "Schwartz-Jampel syndrome"], "diseaseFromSource": "Schwartz-Jampel syndrome", "diseaseFromSourceId": "C0036391", "diseaseFromSourceMappedId": "MONDO_0009717", "variantHgvsId": "NC_000001.11:g.21841203G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "Orphanet_52", "variantHgvsId": "NC_000020.11:g.10641678G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "MONDO_0016862", "variantHgvsId": "NC_000020.11:g.10641678G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000011.10:g.47438749G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 11", "diseaseFromSourceId": "C4225367", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000011.10:g.47438749G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000663963", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_48421682_GT_G", "variantRsId": "rs1555394220", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421684del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000666985", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "18_23539922_T_TC", "variantRsId": "rs1555633326", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23539924dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166277281del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166199096C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001290125", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23561485_T_A", "variantRsId": "rs2059038310", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23561485T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "Orphanet_257", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "MONDO_0009181", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex, Ogna type", "diseaseFromSourceId": "C0432317", "diseaseFromSourceMappedId": "Orphanet_79401", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "MONDO_0012807", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "Orphanet_158684", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "MONDO_0013390", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "Orphanet_254361", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex with nail dystrophy", "diseaseFromSourceId": "C4225309", "diseaseFromSourceMappedId": "MONDO_0014661", "variantHgvsId": "NC_000008.11:g.143923982G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000015.10:g.48421574G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002179803", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23541169_C_T", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23541169C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002227702", "targetFromSourceId": "ENSG00000100014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_24321519_C_G", "cohortPhenotypes": ["CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE", "HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS", "HYPERTELORISM-HYPOSPADIAS SYNDROME", "OPITZ BBB SYNDROME, TYPE II", "OPITZ BBBG SYNDROME, TYPE II", "OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II", "OPITZ-G SYNDROME, TYPE II", "Teebi hypertelorism syndrome 1"], "diseaseFromSource": "Teebi hypertelorism syndrome 1", "diseaseFromSourceId": "CN306405", "variantHgvsId": "NC_000022.11:g.24321519C>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002246062", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48428344_48428355del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52401645C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52401645C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "MONDO_0014900", "variantHgvsId": "NC_000001.11:g.179914055G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "EFO_0000310", "variantHgvsId": "NC_000001.11:g.179914055G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1293861C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Dyskeratosis congenita, autosomal dominant 2", "diseaseFromSourceId": "C3151443", "diseaseFromSourceMappedId": "MONDO_0013521", "variantHgvsId": "NC_000005.10:g.1293861C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_1268591_G_A", "variantRsId": "rs374940572", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", "Fibrocystic pulmonary dysplasia", "Fibrosing alveolitis, cryptogenic", "INTERSTITIAL LUNG DISEASE 2", "Idiopathic Pulmonary Fibrosis", "Idiopathic fibrosing alveolitis, chronic form"], "diseaseFromSource": "Idiopathic Pulmonary Fibrosis", "diseaseFromSourceId": "C5561926", "diseaseFromSourceMappedId": "EFO_0000768", "variantHgvsId": "NC_000005.10:g.1268591G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869348", 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"rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "Orphanet_183713", "variantHgvsId": "NC_000003.12:g.38140571T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892763", "targetFromSourceId": "ENSG00000172936", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38140571_T_C", "variantRsId": "rs148149492", "cohortPhenotypes": ["Myd88 deficiency", "PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY", "Pyogenic bacterial infections due to MyD88 deficiency"], "diseaseFromSource": "Pyogenic bacterial infections due to MyD88 deficiency", "diseaseFromSourceId": "C2677092", "diseaseFromSourceMappedId": "MONDO_0012839", "variantHgvsId": "NC_000003.12:g.38140571T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373139", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_52402628_G_A", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52402628G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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"diseaseFromSource": "Joubert syndrome 38", "diseaseFromSourceId": "C5561958", "variantHgvsId": "NC_000017.11:g.6628328A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002057147", "targetFromSourceId": "ENSG00000115904", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_39120324_C_A", "variantRsId": "rs368569135", "cohortPhenotypes": ["Noonan spectrum disorder", "RASopathy", "rasopathies"], "diseaseFromSource": "RASopathy", "diseaseFromSourceId": "C5555857", "diseaseFromSourceMappedId": "EFO_1001502", "variantHgvsId": "NC_000002.12:g.39120324C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002247286", "targetFromSourceId": "ENSG00000198712", 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"Mitochondrial complex IV deficiency"], "diseaseFromSource": "Cytochrome-c oxidase deficiency disease", "diseaseFromSourceId": "C5435656", "diseaseFromSourceMappedId": "EFO_0009135", "variantHgvsId": "NC_012920.1:m.7512T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV002248369", "targetFromSourceId": "ENSG00000144191", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_98396402_CAG_C", "cohortPhenotypes": ["Achromatopsia 2", "Colorblindness, total", "Rod monochromacy 2", "Rod monochromatism 2"], "diseaseFromSource": "Achromatopsia 2", "diseaseFromSourceId": "C1857618", "diseaseFromSourceMappedId": "MONDO_0018852", "variantHgvsId": "NC_000002.12:g.98396403AG[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000615626", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "4_113358266_A_G", "variantRsId": "rs10013743", "cohortPhenotypes": ["ANKYRIN-B SYNDROME", "Cardiac arrhythmia, ankyrin-B-related"], "diseaseFromSource": "Cardiac arrhythmia, ankyrin-B-related", "diseaseFromSourceId": "C1970119", "variantHgvsId": "NC_000004.12:g.113358266A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002253853", "targetFromSourceId": "ENSG00000154122", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "5_14751257_G_C", "cohortPhenotypes": ["Craniometaphyseal dysplasia Jackson type", "Craniometaphyseal dysplasia, autosomal dominant"], "diseaseFromSource": "Craniometaphyseal dysplasia, autosomal dominant", "diseaseFromSourceId": "C1852502", "diseaseFromSourceMappedId": "MONDO_0015465", "variantHgvsId": "NC_000005.10:g.14751257G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000043259", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "16_2086872_G_T", "variantRsId": "rs45517386", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2086872G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "MONDO_0018614", "variantHgvsId": "NC_000005.10:g.45695795G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000005.10:g.45695795G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132529", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47478436_A_G", "variantRsId": "rs587782891", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47478436A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000163218", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "22_28695212_A_G", "variantRsId": "rs373864492", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695212A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000192441", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "5_37060996_G_GTA", "variantRsId": "rs797045784", "cohortPhenotypes": ["Brachmann de Lange syndrome", "Cornelia de Lange syndrome 1", "Typus degenerativus amstelodamensis"], "diseaseFromSource": "Cornelia de Lange syndrome 1", "diseaseFromSourceId": "C4551851", "diseaseFromSourceMappedId": "MONDO_0016033", "variantHgvsId": "NC_000005.10:g.37060997TA[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000193627", "targetFromSourceId": "ENSG00000171100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "X_150657853_C_CA", "variantRsId": "rs587783752", "cohortPhenotypes": ["MYOTUBULAR MYOPATHY 1", "Myotubular myopathy, X-linked", "Severe X-linked myotubular myopathy", "X-linked centronuclear myopathy"], "diseaseFromSource": "Severe X-linked myotubular myopathy", "diseaseFromSourceId": "C0410203", "diseaseFromSourceMappedId": "MONDO_0010683", "variantHgvsId": "NC_000023.11:g.150657856dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000219047", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214792384_G_A", "variantRsId": "rs876658571", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214792384G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000221614", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_28711924_A_G", "variantRsId": "rs876659828", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28711924A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294299", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "7_103989356_T_TGCCGCCGCCGCCGCCGCCGCC", "variantRsId": "rs55656324", "cohortPhenotypes": ["Lissencephaly, Recessive"], "diseaseFromSource": "Lissencephaly, Recessive", "diseaseFromSourceId": "CN239458", "diseaseFromSourceMappedId": "EFO_0011063", "variantHgvsId": "NC_000007.14:g.103989359CGC[15]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25302331C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25302331C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "MONDO_0008050", "variantHgvsId": "NC_000014.9:g.23429785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000014.9:g.23429785G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000365593", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "14_95086682_T_C", "variantRsId": "rs765598296", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95086682T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152331354C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152331354C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000372271", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2077592_C_T", "variantRsId": "rs528706539", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2077592C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000387283", "targetFromSourceId": "ENSG00000073282", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_189894797_T_A", "variantRsId": "rs886058226", "cohortPhenotypes": ["TP63-Related Spectrum Disorders"], "diseaseFromSource": "TP63-Related Spectrum Disorders", "diseaseFromSourceId": "CN239305", "variantHgvsId": "NC_000003.12:g.189894797T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475349", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[7]AAA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61847140G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61847140G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000556753", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[6]AAA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000571846", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_95124382_C_T", "variantRsId": "rs1347290726", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.95124382C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "Orphanet_2637", "variantHgvsId": "NC_000021.9:g.46363881T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "MONDO_0008872", "variantHgvsId": "NC_000021.9:g.46363881T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000772538", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214780874_TAG_T", "variantRsId": "rs1482641121", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214780876_214780877del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000775105", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214745083_C_T", "variantRsId": "rs878854003", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214745083C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", 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"confidence": "criteria provided, single submitter", "studyId": "RCV001013688", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780280_T_C", "variantRsId": "rs1603333030", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61780280T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001023714", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_214809519_C_A", "variantRsId": "rs864622419", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214809519C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049625", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237445471_G_A", "variantRsId": "rs371121679", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237445471G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001079914", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_99467624_C_G", "variantRsId": "rs149478021", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99467624C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": 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"variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116740007_C_T", "variantRsId": "rs771272439", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116740007C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361224", "targetFromSourceId": "ENSG00000144554", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10049425_G_A", "cohortPhenotypes": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia"], "diseaseFromSource": "Fanconi anemia", "diseaseFromSourceId": "C0015625", "diseaseFromSourceMappedId": "MONDO_0019391", "variantHgvsId": "NC_000003.12:g.10049425G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376273", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476757_G_A", "variantRsId": "rs150550701", "cohortPhenotypes": ["Rod-cone dystrophy"], "diseaseFromSource": "Rod-cone dystrophy", "diseaseFromSourceId": "C4551714", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000003.12:g.129476757G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early 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"diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000001.11:g.43920904C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807043", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156829362_A_G", "variantRsId": "rs17318151", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.156829362A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001810029", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63472400_C_T", "variantRsId": "rs2082239153", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63472400C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61743089C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860782", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61743089_C_A", "variantRsId": "rs1603303846", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61743089C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165991430C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000002.12:g.165991430C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001930932", "targetFromSourceId": "ENSG00000197694", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_128626514_C_T", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic 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"datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001958601", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "14_95106197_C_CGACCCGTT", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95106199_95106200insCCCGTTGA"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002042360", "targetFromSourceId": "ENSG00000083093", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_23624082_G_T", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of 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"criteria provided, single submitter", "studyId": "RCV002170158", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000003.12:g.50366179G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170158", "targetFromSourceId": "ENSG00000007402", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "3_50366179_G_A", "cohortPhenotypes": ["Developmental and epileptic 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provided, single submitter", "studyId": "RCV002244189", "targetFromSourceId": "ENSG00000188994", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_87254902_C_T", "cohortPhenotypes": ["Intellectual developmental disorder, autosomal dominant 64", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 64"], "diseaseFromSource": "Intellectual developmental disorder, autosomal dominant 64", "diseaseFromSourceId": "C5543067", "variantHgvsId": "NC_000006.12:g.87254902C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV002250420", "targetFromSourceId": "ENSG00000135100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_120999579_AGCATCCAGCACCT_GGCATCCAGCACC", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": 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"SO_0001583", "variantId": "2_201761647_C_T", "cohortPhenotypes": ["Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis", "Infantile-onset ascending hereditary spastic paralysis", "Spastic paralysis, infantile onset ascending"], "diseaseFromSource": "Infantile-onset ascending hereditary spastic paralysis", "diseaseFromSourceId": "C2931441", "diseaseFromSourceMappedId": "MONDO_0011797", "variantHgvsId": "NC_000002.12:g.201761647C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000386249", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_88141254_C_T", "variantRsId": "rs886049885", "cohortPhenotypes": ["Bardet-Biedl syndrome 14"], "diseaseFromSource": "Bardet-Biedl syndrome 14", "diseaseFromSourceId": "C2673874", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000012.12:g.88141254C>T"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000420510", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675076_T_G", "variantRsId": "rs1057519991", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000017.11:g.7675076T>G"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426641", "targetFromSourceId": "ENSG00000100393", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_41169525_G_T", "variantRsId": "rs1057519889", "cohortPhenotypes": ["Carcinoma, squamous cell of head and neck", "Head and neck squamous cell carcinoma", "Squamous cell carcinoma of the head and neck", "Squamous cell carcinoma, head and neck, somatic"], "diseaseFromSource": "Squamous cell carcinoma of the head and neck", "diseaseFromSourceId": "C1168401", "diseaseFromSourceMappedId": "EFO_0000181", "variantHgvsId": "NC_000022.11:g.41169525G>T"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000429897", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674917_T_A", "variantRsId": "rs1057520007", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7674917T>A"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000432990", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674237_G_C", "variantRsId": "rs375874539", "cohortPhenotypes": ["Carcinoma of esophagus", "Esophageal carcinoma", "Oesophageal carcinoma"], "diseaseFromSource": "Carcinoma of esophagus", "diseaseFromSourceId": "C0152018", "diseaseFromSourceMappedId": "EFO_0002916", "variantHgvsId": "NC_000017.11:g.7674237G>C"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000442928", "targetFromSourceId": "ENSG00000109670", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_152326136_C_T", "variantRsId": "rs1057519896", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000004.12:g.152326136C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000629277", "targetFromSourceId": "ENSG00000124721", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_38845575_A_T", "variantRsId": "rs943252271", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000006.12:g.38845575A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000862148", "targetFromSourceId": "ENSG00000039139", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_13900398_A_G", "variantRsId": "rs140630779", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000005.10:g.13900398A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001062748", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136433223_G_A", "variantRsId": "rs536052523", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433223G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406468", "targetFromSourceId": "ENSG00000157856", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_26454671_A_G", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000002.12:g.26454671A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001458778", "targetFromSourceId": "ENSG00000039139", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_13811719_G_A", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000005.10:g.13811719G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001830443", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_58206159_G_A", "variantRsId": "rs772719574", "cohortPhenotypes": ["MECKEL-GRUBER SYNDROME, TYPE 1", "Meckel syndrome, type 1"], "diseaseFromSource": "Meckel syndrome, type 1", "diseaseFromSourceId": "C3714506", "variantHgvsId": "NC_000017.11:g.58206159G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908488", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_136433249_C_CGTGTCCTGCAGACGA", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433250_136433251GT[2]CCTGCAGACGAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000017.11:g.58214379C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000017.11:g.58214379C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000303252", "targetFromSourceId": "ENSG00000007314", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_63971780_C_T", "variantRsId": "rs778661227", "cohortPhenotypes": ["Hypokalemic periodic paralysis, type 2"], "diseaseFromSource": "Hypokalemic periodic paralysis, type 2", "diseaseFromSourceId": "C2750061", "diseaseFromSourceMappedId": "MONDO_0008223", "variantHgvsId": "NC_000017.11:g.63971780C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "Orphanet_2457", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "MONDO_0016584", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000368442", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43201827_A_G", "variantRsId": "rs78930544", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43201827A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000378131", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43200603_G_A", "variantRsId": "rs886062957", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43200603G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667105", "targetFromSourceId": "ENSG00000108784", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "17_42536473_G_GGCC", "variantRsId": "rs1469781984", "cohortPhenotypes": ["MPS 3B", "MPS III B", "MUCOPOLYSACCHARIDOSIS, TYPE IIIB", "Mucopoly-saccharidosis type 3B", "Mucopolysaccharidosis type IIIB (Sanfilippo B)", "Mucopolysaccharidosis, MPS-III-B", "N-acetyl-alpha-d-glucosaminidase deficiency", "NAGLU DEFICIENCY", "Sanfilippo syndrome B"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-B", "diseaseFromSourceId": "C0086648", "diseaseFromSourceMappedId": "MONDO_0009656", "variantHgvsId": "NC_000017.11:g.42536474_42536475insCCG"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001162513", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43202160_G_A", "variantRsId": "rs760484403", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43202160G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001798871", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37004437_A_G", "variantRsId": "rs371667663", "cohortPhenotypes": ["Breast and/or ovarian cancer"], "diseaseFromSource": "Breast and/or ovarian cancer", "diseaseFromSourceId": "CN221562", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37004437A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001858687", "targetFromSourceId": "ENSG00000135069", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "9_78300667_G_A", "variantRsId": "rs372232840", "cohortPhenotypes": ["Neu-Laxova syndrome 2"], "diseaseFromSource": "Neu-Laxova syndrome 2", "diseaseFromSourceId": "C4015019", "diseaseFromSourceMappedId": "MONDO_0000179", "variantHgvsId": "NC_000009.12:g.78300667G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["22305531", "24706016", "26545172", "8599356"], "studyId": "RCV000022881", "targetFromSourceId": "ENSG00000165195", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_15321727_G_A", "variantRsId": "rs387906726", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 20", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4", "Multiple congenital anomalies-hypotonia-seizures syndrome 2"], "diseaseFromSource": "Multiple congenital anomalies-hypotonia-seizures syndrome 2", "diseaseFromSourceId": "C3275508", "diseaseFromSourceMappedId": "Orphanet_300496", "variantHgvsId": "NC_000023.11:g.15321727G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "literature": ["9562578"], "studyId": "RCV000035487", "targetFromSourceId": "ENSG00000134571", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_47337729_A_AC", "variantRsId": "rs397515963", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 4", "Hypertrophic cardiomyopathy 4"], "diseaseFromSource": "Hypertrophic cardiomyopathy 4", "diseaseFromSourceId": "C1861862", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000011.10:g.47337730dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000115482", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37007004_G_C", "variantRsId": "rs28930073", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.37007004G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297206", "targetFromSourceId": "ENSG00000170289", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_86575814_G_C", "variantRsId": "rs142846289", "cohortPhenotypes": ["Juvenile onset macular degeneration", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1", "STGD", "Severe early-childhood-onset retinal dystrophy", "Stargardt disease 1", "Stargardt macular dystrophy"], "diseaseFromSource": "Severe early-childhood-onset retinal dystrophy", "diseaseFromSourceId": "C1855465", "diseaseFromSourceMappedId": "MONDO_0009549", "variantHgvsId": "NC_000008.11:g.86575814G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297206", "targetFromSourceId": "ENSG00000170289", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_86575814_G_C", "variantRsId": "rs142846289", "cohortPhenotypes": ["Juvenile onset macular degeneration", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1", "STGD", "Severe early-childhood-onset retinal dystrophy", "Stargardt disease 1", "Stargardt macular dystrophy"], "diseaseFromSource": "Severe early-childhood-onset retinal dystrophy", "diseaseFromSourceId": "C1855465", "diseaseFromSourceMappedId": "Orphanet_827", "variantHgvsId": "NC_000008.11:g.86575814G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000554112", "targetFromSourceId": "ENSG00000146038", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_24178612_G_A", "variantRsId": "rs143313706", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 66", "Deafness, autosomal recessive 66", "Isolated neonatal sclerosing cholangitis", "Sclerosing cholangitis, neonatal"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 66", "diseaseFromSourceId": "C1857750", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000006.12:g.24178612G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000554112", "targetFromSourceId": "ENSG00000146038", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_24178612_G_A", "variantRsId": "rs143313706", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 66", "Deafness, autosomal recessive 66", "Isolated neonatal sclerosing cholangitis", "Sclerosing cholangitis, neonatal"], "diseaseFromSource": "Isolated neonatal sclerosing cholangitis", "diseaseFromSourceId": "C4479344", "diseaseFromSourceMappedId": "EFO_0004268", "variantHgvsId": "NC_000006.12:g.24178612G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000621747", "targetFromSourceId": "ENSG00000134755", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_31086611_C_T", "variantRsId": "rs145560678", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000018.10:g.31086611C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000779383", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129533696_C_T", "variantRsId": "rs183318466", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.129533696C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000852500", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178566906_C_T", "variantRsId": "rs72648206", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000002.12:g.178566906C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Episodic ataxia type 2", "diseaseFromSourceId": "C1720416", "diseaseFromSourceMappedId": "Orphanet_97", "variantHgvsId": "NC_000019.10:g.13259614C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 42", "diseaseFromSourceId": "C4310716", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000019.10:g.13259614C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 42", "diseaseFromSourceId": "C4310716", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000019.10:g.13259614C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001129505", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178573906_A_C", "variantRsId": "rs202098308", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178573906A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133205", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178764187_A_C", "variantRsId": "rs142460433", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178764187A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860109", "targetFromSourceId": "ENSG00000116198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_3847559_T_G", "variantRsId": "rs779086283", "cohortPhenotypes": ["Joubert syndrome 25"], "diseaseFromSource": "Joubert syndrome 25", "diseaseFromSourceId": "C4084842", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000001.11:g.3847559T>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "literature": ["1755842"], "studyId": "RCV000000579", "targetFromSourceId": "ENSG00000066926", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57559148_C_T", "variantRsId": "rs118204037", "cohortPhenotypes": ["Erythropoietic Protoporphyria, Autosomal Recessive", "Ferrochelatase deficiency", "Heme synthetase deficiency", "Protoporphyria, erythropoietic, 1"], "diseaseFromSource": "Protoporphyria, erythropoietic, 1", "diseaseFromSourceId": "C4692546", "diseaseFromSourceMappedId": "MONDO_0060729", "variantHgvsId": "NC_000018.10:g.57559148C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000344754", "targetFromSourceId": "ENSG00000122863", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_72011189_G_A", "variantRsId": "rs115489836", "cohortPhenotypes": ["Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies", "Larsen syndrome", "Larsen syndrome, dominant type"], "diseaseFromSource": "Larsen syndrome", "diseaseFromSourceId": "C0175778", "diseaseFromSourceMappedId": "Orphanet_503", "variantHgvsId": "NC_000010.11:g.72011189G>A"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000422074", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675209_A_C", "variantRsId": "rs1057519975", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7675209A>C"} -{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426907", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674241_G_A", "variantRsId": "rs28934573", "cohortPhenotypes": ["Uterine carcinosarcoma"], "diseaseFromSource": "Uterine carcinosarcoma", "diseaseFromSourceId": "C0280630", "diseaseFromSourceMappedId": "EFO_1000613", "variantHgvsId": "NC_000017.11:g.7674241G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000700548", "targetFromSourceId": "ENSG00000198400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_156868589_G_A", "variantRsId": "rs540751200", "cohortPhenotypes": ["FAMILIAL DYSAUTONOMIA, TYPE II", "Familial dysautonomia, type 2", "HSAN 4", "HSAN Type IV", "Hereditary Sensory and Autonomic Neuropathy Type IV", "Hereditary insensitivity to pain with anhidrosis", "Hereditary sensory and autonomic neuropathy 4", "Insensitivity to pain, congenital, with anhidrosis", "Neuropathy, congenital sensory, with anhidrosis"], "diseaseFromSource": "Hereditary insensitivity to pain with anhidrosis", "diseaseFromSourceId": "C0020074", "diseaseFromSourceMappedId": "MONDO_0009746", "variantHgvsId": "NC_000001.11:g.156868589G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002260995", "targetFromSourceId": "ENSG00000132842", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_78129275_G_A", "variantRsId": "rs17192146", "cohortPhenotypes": ["Autoinflammatory syndrome"], "diseaseFromSource": "Autoinflammatory syndrome", "diseaseFromSourceId": "C3890737", "diseaseFromSourceMappedId": "MONDO_0019751", "variantHgvsId": "NC_000005.10:g.78129275G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000211653", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11113287_C_A", "variantRsId": "rs875989918", "cohortPhenotypes": ["Fredrickson type IIa hyperlipoproteinemia", "HYPER-LOW-DENSITY-LIPOPROTEINEMIA", "HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF", "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL", "Hyper-beta-lipoproteinemia", "Hypercholesterolemia, familial, 1", "Hyperlipoproteinemia Type II", "Hyperlipoproteinemia Type IIa", "Hyperlipoproteinemia type 2", "LDL RECEPTOR DISORDER"], "diseaseFromSource": "Hypercholesterolemia, familial, 1", "diseaseFromSourceId": "C0745103", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11113287C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "MONDO_0009734", "variantHgvsId": "NC_000011.10:g.17404634G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "Orphanet_657", "variantHgvsId": "NC_000011.10:g.17404634G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "Orphanet_656", "variantHgvsId": "NC_000001.11:g.179575717G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179575717G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000318832", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_150053664_C_G", "variantRsId": "rs1058920", "cohortPhenotypes": ["Gliosis, familial progressive subcortical", "Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150053664C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339422", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_103455224_T_C", "variantRsId": "rs202199079", "cohortPhenotypes": ["Short rib-polydactyly syndrome"], "diseaseFromSource": "Short rib-polydactyly syndrome", "diseaseFromSourceId": "C0036996", "diseaseFromSourceMappedId": "MONDO_0015461", "variantHgvsId": "NC_000011.10:g.103455224T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000566663", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95461925_G_A", "variantRsId": "rs771732591", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95461925G>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "Orphanet_656", "variantHgvsId": "NC_000001.11:g.179557134A>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179557134A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2R", "DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "Dilated cardiomyopathy 1F", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Muscular dystrophy, limb-girdle, type 2R", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_363543", "variantHgvsId": "NC_000002.12:g.219420949G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2R", "DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "Dilated cardiomyopathy 1F", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Muscular dystrophy, limb-girdle, type 2R", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_98909", "variantHgvsId": "NC_000002.12:g.219420949G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93270", "variantHgvsId": "NC_000011.10:g.103211834G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93271", "variantHgvsId": "NC_000011.10:g.103211834G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93269", "variantHgvsId": "NC_000011.10:g.103211834G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001155615", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_150068323_G_A", "variantRsId": "rs1757872206", "cohortPhenotypes": ["Gliosis, familial progressive subcortical", "Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150068323G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002256830", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2086798_G_A", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2086798G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000268693", "targetFromSourceId": "ENSG00000109132", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_41745613_G_A", "variantRsId": "rs186778106", "cohortPhenotypes": ["Neuroblastoma 2", "Neuroblastoma, susceptibility to, 2"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 2", "diseaseFromSourceId": "C2751682", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000004.12:g.41745613G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000410484", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "MONDO_0005835", "variantHgvsId": "NC_000003.12:g.37025958G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000410484", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000003.12:g.37025958G>C"} -{"alleleOrigins": ["germline", "inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000467266", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_31201471_C_T", "variantRsId": "rs764079291", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31201471C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622503", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_30614483_C_T", "variantRsId": "rs1456983114", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000022.11:g.30614483C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37020321G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000003.12:g.37020321G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000491359", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "16_2088292_CCGGCTCCGCCACATCAAG_C", "variantRsId": "rs137854218", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2088304_2088321del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19015492"], "studyId": "RCV000006286", "targetFromSourceId": "ENSG00000007314", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_63957460_A_G", "variantRsId": "rs80338956", "cohortPhenotypes": ["Eulenburg disease", "Myotonia congenita intermittens", "Paralysis periodica paramyotonica", "Paramyotonia congenita", "Paramyotonia congenita of Von Eulenburg", "Von Eulenburg paramyotonia congenita"], "diseaseFromSource": "Paramyotonia congenita of Von Eulenburg", "diseaseFromSourceId": "C0221055", "diseaseFromSourceMappedId": "MONDO_0008195", "variantHgvsId": "NC_000017.11:g.63957460A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000197612", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_28725254_G_A", "variantRsId": "rs137853007", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000022.11:g.28725254G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000327439", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_42697752_C_T", "variantRsId": "rs432753", "cohortPhenotypes": ["Adult-onset foveomacular vitelliform dystrophy", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION", "Macular dystrophy, vitelliform, adult-onset"], "diseaseFromSource": "Adult-onset foveomacular vitelliform dystrophy", "diseaseFromSourceId": "C1842914", "diseaseFromSourceMappedId": "MONDO_0011979", "variantHgvsId": "NC_000006.12:g.42697752C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000327439", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_42697752_C_T", "variantRsId": "rs432753", "cohortPhenotypes": ["Adult-onset foveomacular vitelliform dystrophy", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION", "Macular dystrophy, vitelliform, adult-onset"], "diseaseFromSource": "Adult-onset foveomacular vitelliform dystrophy", "diseaseFromSourceId": "C1842914", "diseaseFromSourceMappedId": "Orphanet_99000", "variantHgvsId": "NC_000006.12:g.42697752C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000332126", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42722243_C_A", "variantRsId": "rs886061404", "cohortPhenotypes": ["Fundus albipunctatus", "Pigmentary retinal dystrophy"], "diseaseFromSource": "Pigmentary retinal dystrophy", "diseaseFromSourceId": "C0311338", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000006.12:g.42722243C>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "Orphanet_2162", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "MONDO_0016296", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32316408C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32316408C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000217688", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32398296_C_T", "variantRsId": "rs876658661", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000013.11:g.32398296C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "reviewed by expert panel", "studyId": "RCV000495697", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32394828_A_G", "variantRsId": "rs201172050", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32394828A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "reviewed by expert panel", "studyId": "RCV000495697", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_32394828_A_G", "variantRsId": "rs201172050", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32394828A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000574011", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32340050_G_A", "variantRsId": "rs371189402", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000013.11:g.32340050G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single 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"rs11231865", "cohortPhenotypes": ["GSD 5", "Glycogen storage disease type 5", "Glycogen storage disease, type V", "McArdle disease", "McArdle type glycogen storage disease", "Muscle glycogen phosphorylase deficiency", "Myophosphorylase deficiency"], "diseaseFromSource": "Glycogen storage disease, type V", "diseaseFromSourceId": "C0017924", "diseaseFromSourceMappedId": "MONDO_0009293", "variantHgvsId": "NC_000011.10:g.64753097G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000131401", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94445825_T_C", "variantRsId": "rs375630981", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.94445825T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132542", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47800172_A_G", "variantRsId": "rs587782900", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47800172A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132542", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47800172_A_G", "variantRsId": "rs587782900", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47800172A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000163236", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094604_T_C", "variantRsId": "rs757936216", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.43094604T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["26424145"], "studyId": "RCV000207049", "targetFromSourceId": "ENSG00000085382", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_104771384_G_GAATACCTAAAAATACCTAAA", "cohortPhenotypes": ["Spastic paraplegia and psychomotor retardation with or without seizures", "Spastic paraplegia-severe developmental delay-epilepsy syndrome"], "diseaseFromSource": "Spastic paraplegia-severe developmental delay-epilepsy syndrome", "diseaseFromSourceId": "C4225215", "diseaseFromSourceMappedId": "MONDO_0014764", "variantHgvsId": "NC_000006.12:g.104771387TACCTAAAAA[3]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000227822", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780946_T_C", "variantRsId": "rs577768294", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61780946T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000227822", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780946_T_C", "variantRsId": "rs577768294", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61780946T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000233397", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_108329071_A_G", "variantRsId": "rs750569023", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108329071A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000233397", "targetFromSourceId": "ENSG00000166323", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "11_108329071_A_G", "variantRsId": "rs750569023", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108329071A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000258385", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32326153A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000258385", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32326153A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000279393", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178633323_C_G", "variantRsId": "rs727505144", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178633323C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294258", "targetFromSourceId": "ENSG00000235718", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "11_119346388_A_ATAC", "variantRsId": "rs143351376", "cohortPhenotypes": ["Retinal degeneration"], "diseaseFromSource": "Retinal degeneration", "diseaseFromSourceId": "C0035304", "diseaseFromSourceMappedId": "MONDO_0004580", "variantHgvsId": "NC_000011.10:g.119346390_119346392dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339062", "targetFromSourceId": "ENSG00000062038", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "16_68644701_T_C", "variantRsId": "rs150247850", "cohortPhenotypes": ["EEM syndrome", "Ectodermal dysplasia, ectrodactyly, and macular dystrophy"], "diseaseFromSource": "EEM syndrome", "diseaseFromSourceId": "C1857041", "diseaseFromSourceMappedId": "MONDO_0009155", "variantHgvsId": "NC_000016.10:g.68644701T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178568853T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178568853T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "targetFromSourceId": "ENSG00000141255", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "targetFromSourceId": "ENSG00000167723", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000357267", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_48487155_C_T", "variantRsId": "rs137854475", "cohortPhenotypes": ["Acromicric dysplasia", "Acromicric skeletal dysplasia"], "diseaseFromSource": "Acromicric dysplasia", "diseaseFromSourceId": "C0265287", "diseaseFromSourceMappedId": "MONDO_0007055", "variantHgvsId": "NC_000015.10:g.48487155C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000363966", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71812008_T_C", "variantRsId": "rs45583140", "cohortPhenotypes": ["Dystrophia retinae pigmentosa-dysostosis syndrome", "Graefe-Usher syndrome", "Hallgren syndrome", "RETINITIS PIGMENTOSA 21", "RETINITIS PIGMENTOSA 8", "RP21, formerly", "RP8, formerly", "Retinitis pigmentosa 21, formerly", "Retinitis pigmentosa 8, formerly", "Retinitis pigmentosa-deafness syndrome"], "diseaseFromSource": "Retinitis pigmentosa-deafness syndrome", "diseaseFromSourceId": "CN033130", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71812008T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000396653", "targetFromSourceId": "ENSG00000079805", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "19_10759823_C_A", "variantRsId": "rs147026993", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B", "CMT DI1", "Charcot-Marie-Tooth disease dominant intermediate 1", "Charcot-Marie-Tooth disease dominant intermediate B", "Charcot-Marie-Tooth disease dominant intermediate I", "DNM2-related intermediate Charcot-Marie-Tooth neuropathy"], "diseaseFromSource": "Charcot-Marie-Tooth disease dominant intermediate B", "diseaseFromSourceId": "C1847902", "diseaseFromSourceMappedId": "MONDO_0011674", "variantHgvsId": "NC_000019.10:g.10759823C>A"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000410953", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112815536_G_C", "variantRsId": "rs760059672", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112815536G>C"} -{"alleleOrigins": ["germline"], "datasourceId": 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["not provided"], "confidence": "no assertion provided", "studyId": "RCV001077539", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_43063956_A_C", "variantRsId": "rs775235695", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43063956A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001079404", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905803_G_A", "variantRsId": "rs775869914", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905803G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001080129", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94420160_T_C", "variantRsId": "rs1805362", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94420160T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001114788", "targetFromSourceId": "ENSG00000111199", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_109786742_C_G", "variantRsId": "rs138986228", "cohortPhenotypes": ["Dysmorphism arthrogryposis skeletal maturation advanced", "Jequier-Kozlowski syndrome", "SMD Kozlowski type", "Skeletal dysplasia Jequier-Kozlowski type", "Spondylometaphyseal dysplasia, Kozlowski type"], "diseaseFromSource": "Spondylometaphyseal dysplasia, Kozlowski type", "diseaseFromSourceId": "C0265280", "diseaseFromSourceMappedId": "MONDO_0008477", "variantHgvsId": "NC_000012.12:g.109786742C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001159488", "targetFromSourceId": "ENSG00000106211", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_76302721_G_A", "variantRsId": "rs77586767", "cohortPhenotypes": ["HMN IIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB", "Neuronopathy, distal hereditary motor, type 2B"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 2B", "diseaseFromSourceId": "C2608087", "variantHgvsId": "NC_000007.14:g.76302721G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169346", "targetFromSourceId": "ENSG00000106991", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_127815148_G_A", "variantRsId": "rs893984357", "cohortPhenotypes": ["Osler Weber Rendu syndrome type 1", "Telangiectasia, hereditary hemorrhagic, type 1"], "diseaseFromSource": "Telangiectasia, hereditary hemorrhagic, type 1", "diseaseFromSourceId": "C4551861", "diseaseFromSourceMappedId": "MONDO_0008535", "variantHgvsId": "NC_000009.12:g.127815148G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000003.12:g.30672180C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30672180C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001182919", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838104_C_T", "variantRsId": "rs79512956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer 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"NC_000019.10:g.50416615del"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000012.12:g.88118537dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000012.12:g.88118537dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236913", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_88118527_A_AT", "variantRsId": "rs727503855", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome", "Nephronophthisis", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000012.12:g.88118537dup"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43094543C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094543C>T"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001356658", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32336694_C_G", "variantRsId": "rs587781471", "cohortPhenotypes": ["Breast cancer", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "EFO_0000305", "variantHgvsId": "NC_000013.11:g.32336694C>G"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001356658", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32336694_C_G", "variantRsId": "rs587781471", "cohortPhenotypes": ["Breast cancer", "Malignant breast neoplasm", "Malignant tumor of breast"], "diseaseFromSource": "Malignant tumor of breast", "diseaseFromSourceId": "C0006142", "diseaseFromSourceMappedId": "MONDO_0007254", "variantHgvsId": "NC_000013.11:g.32336694C>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43094826A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian 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-{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001782803", "targetFromSourceId": "ENSG00000167207", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_50710770_C_T", "variantRsId": "rs560242309", "cohortPhenotypes": ["Enteritis, Granulomatous", "Inflammatory bowel disease 1", "Inflammatory bowel disease 1, Crohn disease"], "diseaseFromSource": "Inflammatory bowel disease 1", "diseaseFromSourceId": "CN260071", "diseaseFromSourceMappedId": "EFO_0000729", "variantHgvsId": "NC_000016.10:g.50710770C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["drug response"], "confidence": "reviewed by expert panel", "studyId": "RCV001787325", "targetFromSourceId": "ENSG00000134538", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_21178615_T_C", "variantRsId": "rs4149056", "cohortPhenotypes": ["simvastatin response - Toxicity"], "diseaseFromSource": "simvastatin response - Toxicity", "variantHgvsId": "NC_000012.12:g.21178615T>C"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Joubert syndrome 2", "diseaseFromSourceId": "C1842577", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} -{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely 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"cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "Orphanet_5", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "MONDO_0012173", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "targetFromSourceId": "ENSG00000108961", "variantFunctionalConsequenceId": "SO_0001578", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "targetFromSourceId": "ENSG00000125434", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001843181", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150957496_A_C", "variantRsId": "rs372559632", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000007.14:g.150957496A>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": 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"C0152171", "diseaseFromSourceMappedId": "MONDO_0017147", "variantHgvsId": "NC_000002.12:g.202552774G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001852052", "targetFromSourceId": "ENSG00000105711", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_35039684_G_A", "variantRsId": "rs77106213", "cohortPhenotypes": ["Brugada syndrome 5"], "diseaseFromSource": "Brugada syndrome 5", "diseaseFromSourceId": "C2748541", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000019.10:g.35039684G>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001931870", "targetFromSourceId": "ENSG00000164073", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_127930737_G_T", "cohortPhenotypes": ["MFSD8-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 7"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 7", "diseaseFromSourceId": "C1838571", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000004.12:g.127930737G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001952312", "targetFromSourceId": "ENSG00000169814", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_15641944_C_T", "cohortPhenotypes": ["BTD deficiency", "Biotin deficiency", "Biotinidase deficiency", "Late-onset biotin-responsive multiple carboxylase deficiency"], "diseaseFromSource": "Biotinidase deficiency", "diseaseFromSourceId": "C0220754", "diseaseFromSourceMappedId": "MONDO_0009665", "variantHgvsId": "NC_000003.12:g.15641944C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} -{"alleleOrigins": 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"diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43091455T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43091455T>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000003.12:g.30674146C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30674146C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "targetFromSourceId": "ENSG00000107796", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_88938118_A_G", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "targetFromSourceId": "ENSG00000138134", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_88938118_A_G", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002230862", "targetFromSourceId": "ENSG00000122512", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "7_6004064_A_G", "variantRsId": "rs1060504837", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000007.14:g.6004064A>G"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002232090", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94485928_T_A", "variantRsId": "rs748434421", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94485928T>A"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002234807", "targetFromSourceId": "ENSG00000160014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_46608879_C_T", "variantRsId": "rs1599759441", "cohortPhenotypes": ["Long QT syndrome 1"], "diseaseFromSource": "Long QT syndrome 1", "diseaseFromSourceId": "C4551647", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000019.10:g.46608879C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002241250", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112839444_G_T", "variantRsId": "rs1765537897", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112839444G>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002241833", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "5_112707390_G_C", "variantRsId": "rs1750554761", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112707390G>C"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002242068", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838046_A_T", "variantRsId": "rs1765186281", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112838046A>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002269974", "targetFromSourceId": "ENSG00000130635", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_134842317_C_T", "variantRsId": "rs12553247", "cohortPhenotypes": ["FIBROMUSCULAR DYSPLASIA, MULTIFOCAL"], "diseaseFromSource": "FIBROMUSCULAR DYSPLASIA, MULTIFOCAL", "diseaseFromSourceId": "C5543412", "variantHgvsId": "NC_000009.12:g.134842317C>T"} -{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002270594", "targetFromSourceId": "ENSG00000107147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_135784872_G_A", "variantRsId": "rs760000324", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy 5", "CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS", "CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT 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"genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["3170546"], "studyId": "RCV000000176", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000065154", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_124405545_C_G", "variantRsId": "rs121965040", "cohortPhenotypes": ["Girate atrophy of the retina", "Gyrate atrophy", "Gyrate atrophy of choroid and retina", "Hyperornithinemia with gyrate atrophy of choroid and retina", "OAT deficiency", "OKT deficiency", "Ornithine aminotransferase deficiency", "Ornithine ketoacid aminotransferase deficiency"], "diseaseFromSource": "Ornithine aminotransferase deficiency", "diseaseFromSourceId": "C0018425", "diseaseFromSourceMappedId": "Orphanet_414", "variantHgvsId": "NC_000010.11:g.124405545C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["18176953"], "studyId": "RCV000000912", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000120942", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_11285822_C_G", "variantRsId": "rs118203953", "cohortPhenotypes": ["Corneal dystrophy crystalline of Schnyder", "Crystalline corneal dystrophy", "Schnyder corneal dystrophy", "Schnyder crystalline corneal dystrophy"], "diseaseFromSource": "Schnyder crystalline corneal dystrophy", "diseaseFromSourceId": "C0271287", "diseaseFromSourceMappedId": "MONDO_0007374", "variantHgvsId": "NC_000001.11:g.11285822C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "MONDO_0009662", "variantHgvsId": "NC_000007.14:g.65964382C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["12522561"], "studyId": "RCV000000950", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000169919", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_65964382_C_A", "variantRsId": "rs121918183", "cohortPhenotypes": ["Beta-glucuronidase deficiency", "MPS 7", "MPS VII", "Mucopolysaccharidosis type 7", "Mucopolysaccharidosis type VII", "Sly syndrome"], "diseaseFromSource": "Mucopolysaccharidosis type 7", "diseaseFromSourceId": "C0085132", "diseaseFromSourceMappedId": "Orphanet_584", "variantHgvsId": "NC_000007.14:g.65964382C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "Orphanet_276234", "variantHgvsId": "NC_000011.10:g.66025841dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19344877"], "studyId": "RCV000004650", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000175294", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_66025840_G_GA", "variantRsId": "rs193929390", "cohortPhenotypes": ["CATSPER-Related Male Infertility", "MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE", "Spermatogenic failure 7"], "diseaseFromSource": "Spermatogenic failure 7", "diseaseFromSourceId": "C2751811", "diseaseFromSourceMappedId": "MONDO_0017173", "variantHgvsId": "NC_000011.10:g.66025841dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11468277", "12529855"], "studyId": "RCV000005133", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183770", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "3_138945918_C_CG", "variantRsId": "rs797044528", "cohortPhenotypes": ["BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I", "BPES I", "BPES type 1", "BPES with ovarian failure", "BPES with premature ovarian failure", "Blepharophimosis syndrome type 1", "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "Blepharophimosis, ptosis, epicanthus inversus type 1", "Blepharophimosis, ptosis, epicanthus inversus with ovarian failure"], "diseaseFromSource": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "diseaseFromSourceId": "C2931135", "diseaseFromSourceMappedId": "Orphanet_126", "variantHgvsId": "NC_000003.12:g.138945919dupG"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005889", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "MONDO_0009779", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19481194"], "studyId": "RCV000005890", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000183098", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autosomal recessive omodysplasia", "MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS", "Micromelic dysplasia congenita with dislocation of radius", "Omodysplasia 1", "Omodysplasia generalized form"], "diseaseFromSource": "Autosomal recessive omodysplasia", "diseaseFromSourceId": "C1850318", "diseaseFromSourceMappedId": "Orphanet_2733", "variantHgvsId": "NC_000013.11:g.94252984_94352299del99316insCTA"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "Orphanet_411602", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["risk factor"], "confidence": "no assertion criteria provided", "literature": ["10484774", "11313753", "11448935", "12805114", "14755733", "14756671", "14985389", "15521976"], "studyId": "RCV000010057", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112592", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Hereditary late onset Parkinson disease", "PARKINSON DISEASE, AGE OF ONSET, MODIFIER", "PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO", "Parkinson disease, late-onset", "Parkinson's disease", "Susceptibility to Parkinson's Disease"], "diseaseFromSource": "Parkinson disease, late-onset", "diseaseFromSourceId": "C3160718", "diseaseFromSourceMappedId": "MONDO_0005180", "variantHgvsId": "NC_000006.12:g.170561908CAR[(49_?)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["10208170", "11445641", "1605193", "1675488", "9719368"], "studyId": "RCV000010653", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["FMR1-Related Primary Ovarian Insufficiency", "Fragile x premature ovarian failure", "HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED", "PREMATURE OVARIAN FAILURE, X-LINKED", "Premature ovarian failure 1", "Primary ovarian insufficiency, fragile X-associated"], "diseaseFromSource": "Premature ovarian failure 1", "diseaseFromSourceId": "C4552079", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NM_002024.6:c.-128GGM[55_?]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11781684"], "studyId": "RCV000014778", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000198807", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "14_36663232_A_T", "variantRsId": "rs104894467", "cohortPhenotypes": ["HYPODONTIA/OLIGODONTIA 3", "Tooth agenesis, selective, 3"], "diseaseFromSource": "Tooth agenesis, selective, 3", "diseaseFromSourceId": "C1970291", "diseaseFromSourceMappedId": "EFO_0005410", "variantHgvsId": "NC_000014.9:g.36663232A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "literature": ["8381387"], "studyId": "RCV000017358", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000145321", "variantFunctionalConsequenceId": "SO_0002162", "cohortPhenotypes": ["GC1/GC2 POLYMORPHISM"], "diseaseFromSource": "GC1/GC2 POLYMORPHISM", "variantHgvsId": "NG_012837.2:g.55347TAAA[(6_10)]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["1429602"], "studyId": "RCV000018903", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139219", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_47977607_C_T", "variantRsId": "rs121912868", "cohortPhenotypes": ["Hypochondrogenesis"], "diseaseFromSource": "Hypochondrogenesis", "diseaseFromSourceId": "C0542428", "diseaseFromSourceMappedId": "MONDO_0019669", "variantHgvsId": "NC_000012.12:g.47977607C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000020640", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000140092", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Cutis laxa, autosomal dominant 1"], "diseaseFromSource": "Cutis laxa, autosomal dominant 1", "diseaseFromSourceId": "C3276539", "diseaseFromSourceMappedId": "MONDO_0019571", "variantHgvsId": "NC_000014.9:g.91881408_91904133dup"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000022242", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000213930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_34649462_C_T", "variantRsId": "rs111033792", "cohortPhenotypes": ["Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY", "GALACTOSEMIA I", "GALT deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia, classic", "Transferase Deficiency Galactosemia"], "diseaseFromSource": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase", "diseaseFromSourceId": "C0268151", "diseaseFromSourceMappedId": "MONDO_0009258", "variantHgvsId": "NC_000009.12:g.34649462C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22405089"], "studyId": "RCV000024211", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "6_157198835_T_A", "variantRsId": "rs748363079", "cohortPhenotypes": ["Coffin-Siris syndrome 1", "Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features", "Mental retardation, autosomal dominant 12"], "diseaseFromSource": "Coffin-Siris syndrome 1", "diseaseFromSourceId": "C3281201", "diseaseFromSourceMappedId": "MONDO_0015452", "variantHgvsId": "NC_000006.12:g.157198835T>A"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000049563", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3254202_G_T", "variantRsId": "rs104895132", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254202G>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000050105", "releaseDate": "2013-07-24", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_99817707_AC_A", "variantRsId": "rs386834111", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99817708del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "MONDO_0010986", "variantHgvsId": "NC_000002.12:g.26480990del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000056017", "releaseDate": "2013-10-02", "targetFromSourceId": "ENSG00000115155", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_26480987_TG_T", "variantRsId": "rs397515583", "cohortPhenotypes": ["AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE", "Autosomal recessive nonsyndromic hearing loss 9", "Deafness, autosomal recessive 9", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9", "OTOF-Related Deafness"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 9", "diseaseFromSourceId": "C1832828", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000002.12:g.26480990del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000083836", "releaseDate": "2014-02-20", "targetFromSourceId": "ENSG00000110921", "variantFunctionalConsequenceId": "SO_0001578", "variantRsId": "rs104895310", "cohortPhenotypes": ["Hyperimmunoglobulin D with periodic fever", "Hyperimmunoglobulinemia D", "Hyperimmunoglobulinemia D and periodic fever syndrome", "Hyperimmunoglobulinemia D with periodic fever", "Periodic fever Dutch type"], "diseaseFromSource": "Hyperimmunoglobulin D with periodic fever", "diseaseFromSourceId": "C0398691", "diseaseFromSourceMappedId": "MONDO_0009849", "variantHgvsId": "NC_000012.12:g.109581396_109581551del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000087449", "releaseDate": "2014-03-13", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188999367_G_A", "variantRsId": "rs587779512", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188999367G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161150", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000008128", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Normal pregnancy"], "diseaseFromSource": "Normal pregnancy", "diseaseFromSourceId": "C0232989", "diseaseFromSourceMappedId": "EFO_0002950", "variantHgvsId": "NC_000001.11:g.1696548_1732685del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161163", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000186094", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000001.11:g.49462391_49524663del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161300", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000044524", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gestational diabetes mellitus uncontrolled"], "diseaseFromSource": "Gestational diabetes mellitus uncontrolled", "diseaseFromSourceId": "C3532257", "diseaseFromSourceMappedId": "EFO_0004593", "variantHgvsId": "NC_000003.12:g.89335416_89368021del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161508", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Large for gestational age"], "diseaseFromSource": "Large for gestational age", "diseaseFromSourceId": "C1848395", "diseaseFromSourceMappedId": "HP_0001520", "variantHgvsId": "NC_000007.14:g.152176768_152580446dup"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000161829", "releaseDate": "2015-02-26", "targetFromSourceId": "ENSG00000167281", "variantFunctionalConsequenceId": "SO_0001907", "cohortPhenotypes": ["Gestational diabetes mellitus uncontrolled"], "diseaseFromSource": "Gestational diabetes mellitus uncontrolled", "diseaseFromSourceId": "C3532257", "diseaseFromSourceMappedId": "EFO_0004593", "variantHgvsId": "NC_000017.11:g.79369452_79395919dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000167627", "releaseDate": "2015-03-29", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", 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"allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000203488", "releaseDate": "2016-01-16", "targetFromSourceId": "ENSG00000021574", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Familial spastic paraplegia autosomal dominant 2", "Hereditary spastic paraplegia 4", "Spastic paraplegia 4, autosomal dominant"], "diseaseFromSource": "Hereditary spastic paraplegia 4", "diseaseFromSourceId": "C1866855", "diseaseFromSourceMappedId": "Orphanet_100985", "variantHgvsId": "NC_000002.12:g.32113664_32125322del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017781", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["22290657"], "studyId": "RCV000207477", "releaseDate": "2016-02-14", "targetFromSourceId": "ENSG00000134532", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Lamb-Shaffer syndrome"], "diseaseFromSource": "Lamb-Shaffer syndrome", "diseaseFromSourceId": "C4225202", "diseaseFromSourceMappedId": "MONDO_0017782", "variantHgvsId": "NC_000012.12:g.23484745_23564581del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000224048", "releaseDate": "2016-06-09", "targetFromSourceId": "ENSG00000105607", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_12897345_G_A", "variantRsId": "rs878853156", "cohortPhenotypes": ["GA I", "Glutaric acidemia type I", "Glutaric aciduria, type 1", "Glutaricacidemia Type 1", "Glutaricaciduria, type I", "Glutaryl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Glutaric aciduria, type 1", "diseaseFromSourceId": "C0268595", "diseaseFromSourceMappedId": "MONDO_0009281", "variantHgvsId": "NC_000019.10:g.12897345G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225267", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000196620", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000004.12:g.68626601_68646936del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225340", "releaseDate": "2016-06-23", "targetFromSourceId": "ENSG00000178075", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Premature ovarian failure", "Primary ovarian failure", "Primary ovarian insufficiency"], "diseaseFromSource": "Premature ovarian failure", "diseaseFromSourceId": "C0085215", "diseaseFromSourceMappedId": "EFO_0004266", "variantHgvsId": "NC_000003.12:g.113857357_113901499del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000225526", "releaseDate": "2016-06-24", "targetFromSourceId": "ENSG00000021645", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism spectrum disorder", "Autism spectrum disorders", "Autism susceptibility"], "diseaseFromSource": "Autism spectrum disorder", "diseaseFromSourceId": "C1510586", "diseaseFromSourceMappedId": "EFO_0003756", "variantHgvsId": "NC_000014.9:g.78581479_79053758del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000230056", "releaseDate": "2016-07-03", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31225257_T_C", "variantRsId": "rs878853870", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31225257T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["26138117"], "studyId": "RCV000235009", "releaseDate": "2016-07-16", "targetFromSourceId": "ENSG00000103657", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_63734745_C_T", "variantRsId": "rs879253786", "cohortPhenotypes": ["Macrocephaly, dysmorphic facies, and psychomotor retardation"], "diseaseFromSource": "Macrocephaly, dysmorphic facies, and psychomotor retardation", "diseaseFromSourceId": "C4310766", "diseaseFromSourceMappedId": "MONDO_0014863", "variantHgvsId": "NC_000015.10:g.63734745C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000248743", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178779324_C_T", "variantRsId": "rs748755381", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.178779324C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000250222", "releaseDate": "2016-10-03", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_188994044_C_T", "variantRsId": "rs757192342", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000002.12:g.188994044C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000259393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105641", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "19_17872267_C_T", "variantRsId": "rs886054281", "cohortPhenotypes": ["Familial thyroid dyshormonogenesis 1", "HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1", "IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT", "THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1", "Thyroid dyshormonogenesis 1"], "diseaseFromSource": "Familial thyroid dyshormonogenesis 1", "diseaseFromSourceId": "C1848805", "diseaseFromSourceMappedId": "Orphanet_95716", "variantHgvsId": "NC_000019.10:g.17872267C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260368", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000052850", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_44275556_G_A", "variantRsId": "rs143620051", "cohortPhenotypes": ["Parietal foramina 2"], "diseaseFromSource": "Parietal foramina 2", "diseaseFromSourceId": "C1865044", "diseaseFromSourceMappedId": "MONDO_0018953", "variantHgvsId": "NC_000011.10:g.44275556G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000269816", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "13_40807393_T_C", "variantRsId": "rs374352017", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40807393T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "MONDO_0013111", "variantHgvsId": "NC_000022.11:g.46355522C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100416", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_46355522_C_G", "variantRsId": "rs150128284", "cohortPhenotypes": ["Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "LIVER FAILURE, INFANTILE, TRANSIENT", "Liver failure acute infantile"], "diseaseFromSource": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "diseaseFromSourceId": "C3278664", "diseaseFromSourceMappedId": "Orphanet_217371", "variantHgvsId": "NC_000022.11:g.46355522C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000273957", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000133063", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_203225876_C_T", "variantRsId": "rs190551025", "cohortPhenotypes": ["Chitotriosidase deficiency"], "diseaseFromSource": "Chitotriosidase deficiency", "diseaseFromSourceId": "C3279902", "diseaseFromSourceMappedId": "MONDO_0013586", "variantHgvsId": "NC_000001.11:g.203225876C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "Orphanet_333", "variantHgvsId": "NC_000008.11:g.18056848A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000274476", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104763", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_18056848_A_G", "variantRsId": "rs886062777", "cohortPhenotypes": ["AC deficiency", "Acid ceramidase deficiency", "Ceramidase deficiency", "Farber disease", "Farber lipogranulomatosis", "Farber's disease", "Farber's lipogranulomatosis", "N-Laurylsphingosine deacylase deficiency"], "diseaseFromSource": "Farber lipogranulomatosis", "diseaseFromSourceId": "C0268255", "diseaseFromSourceMappedId": "MONDO_0009218", "variantHgvsId": "NC_000008.11:g.18056848A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000275192", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000167792", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_67609491_G_A", "variantRsId": "rs140445386", "cohortPhenotypes": ["MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF", "Mitochondrial complex I deficiency, nuclear type 1", "NADH-COENZYME Q REDUCTASE DEFICIENCY"], "diseaseFromSource": "Mitochondrial complex I deficiency, nuclear type 1", "diseaseFromSourceId": "CN257533", "diseaseFromSourceMappedId": "MONDO_0100133", "variantHgvsId": "NC_000011.10:g.67609491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276090", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000214960", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_16091274_A_G", "variantRsId": "rs886062164", "cohortPhenotypes": ["Congenital Muscular Dystrophy, alpha-dystroglycan related"], "diseaseFromSource": "Congenital Muscular Dystrophy, alpha-dystroglycan related", "diseaseFromSourceId": "CN239202", "variantHgvsId": "NC_000007.14:g.16091274A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000278645", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155850", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_149982709_A_G", "variantRsId": "rs886060230", "cohortPhenotypes": ["Multiple epiphyseal dysplasia type 4", "Multiple epiphyseal dysplasia with bilayered patellae", "Multiple epiphyseal dysplasia with clubfoot", "Multiple epiphyseal dysplasia with double-layered patella", "Multiple epiphyseal dysplasia, autosomal recessive"], "diseaseFromSource": "Multiple epiphyseal dysplasia type 4", "diseaseFromSourceId": "C1847593", "diseaseFromSourceMappedId": "MONDO_0009189", "variantHgvsId": "NC_000005.10:g.149982709A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000280743", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000137869", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_51209789_G_A", "variantRsId": "rs886051274", "cohortPhenotypes": ["Aromatase deficiency", "Increased aromatase activity", "Pseudohermaphroditism, female, due to placental aromatase deficiency"], "diseaseFromSource": "Aromatase deficiency", "diseaseFromSourceId": "C1960539", "diseaseFromSourceMappedId": "MONDO_0013301", "variantHgvsId": "NC_000015.10:g.51209789G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "MONDO_0009661", "variantHgvsId": "NC_000005.10:g.78779779G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000113273", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_78779779_G_A", "variantRsId": "rs757857543", "cohortPhenotypes": ["Arylsulfatase B deficiency", "MPS 6", "MPS VI", "Maroteaux Lamy syndrome", "Mucopolysaccharidosis type 6", "Mucopolysaccharidosis type VI", "N-acetylgalactosamine-4-sulfatase deficiency"], "diseaseFromSource": "Mucopolysaccharidosis type 6", "diseaseFromSourceId": "C0026709", "diseaseFromSourceMappedId": "Orphanet_79213", "variantHgvsId": "NC_000005.10:g.78779779G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000296044", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000145476", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_186212608_C_T", "variantRsId": "rs886059294", "cohortPhenotypes": ["Corneal Dystrophy, Recessive"], "diseaseFromSource": "Corneal Dystrophy, Recessive", "diseaseFromSourceId": "CN239343", "variantHgvsId": "NC_000004.12:g.186212608C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000308394", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_166196010_C_T", "variantRsId": "rs149873320", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166196010C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_91492", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98991", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98992", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000328833", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_45967999_C_T", "variantRsId": "rs3796376", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "Orphanet_98995", "variantHgvsId": "NC_000003.12:g.45967999C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000329537", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000081923", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57706547_G_T", "variantRsId": "rs145214384", "cohortPhenotypes": ["Byler disease", "Byler's disease", "Progressive familial intrahepatic cholestasis type 1"], "diseaseFromSource": "Progressive familial intrahepatic cholestasis type 1", "diseaseFromSourceId": "C4551898", "diseaseFromSourceMappedId": "MONDO_0008892", "variantHgvsId": "NC_000018.10:g.57706547G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337687", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000166415", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_53515041_G_GTATATATATGTGTGTATATATATACACACATATATATGTGTA", "variantRsId": "rs1555402394", "cohortPhenotypes": ["Amelogenesis Imperfecta, Recessive"], "diseaseFromSource": "Amelogenesis Imperfecta, Recessive", "diseaseFromSourceId": "CN239209", "variantHgvsId": "NC_000015.10:g.53515042_53515080TA[4]TG[3]TA[5]CA[3]TA[3]TG[2]TA[5]TG[3]TA[5]CA[3]TA[3]TGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "MONDO_0008270", "variantHgvsId": "NC_000007.14:g.156682634A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339133", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000105983", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_156682634_A_C", "variantRsId": "rs17837687", "cohortPhenotypes": ["POLYDACTYLY OF TRIPHALANGEAL THUMB", "Polydactyly of a triphalangeal thumb", "Polydactyly, preaxial II", "TPT-PS SYNDROME", "TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME"], "diseaseFromSource": "Polydactyly of a triphalangeal thumb", "diseaseFromSourceId": "C1868114", "diseaseFromSourceMappedId": "Orphanet_294939", "variantHgvsId": "NC_000007.14:g.156682634A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339505", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_31547162_G_T", "variantRsId": "rs552933757", "cohortPhenotypes": ["Dilated Cardiomyopathy, Dominant"], "diseaseFromSource": "Dilated Cardiomyopathy, Dominant", "diseaseFromSourceId": "CN239310", "diseaseFromSourceMappedId": "EFO_0009142", "variantHgvsId": "NC_000018.10:g.31547162G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000340578", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124299", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_33387291_G_A", "variantRsId": "rs77690463", "cohortPhenotypes": ["Prolidase deficiency"], "diseaseFromSource": "Prolidase deficiency", "diseaseFromSourceId": "C0268532", "diseaseFromSourceMappedId": "MONDO_0008221", "variantHgvsId": "NC_000019.10:g.33387291G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000343150", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000102743", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "13_40809884_G_A", "variantRsId": "rs886050241", "cohortPhenotypes": ["HHH syndrome", "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "Ornithine translocase deficiency", "Ornithine translocase deficiency syndrome"], "diseaseFromSource": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "diseaseFromSourceId": "C0268540", "diseaseFromSourceMappedId": "Orphanet_415", "variantHgvsId": "NC_000013.11:g.40809884G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000345155", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000135517", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_56454516_C_T", "variantRsId": "rs139963297", "cohortPhenotypes": ["CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES", "Cataract 15 multiple types"], "diseaseFromSource": "Cataract 15 multiple types", "diseaseFromSourceId": "C3809001", "variantHgvsId": "NC_000012.12:g.56454516C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000009.12:g.99153772C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000348088", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000106799", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_99153772_C_A", "variantRsId": "rs886063257", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000009.12:g.99153772C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000350350", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000148606", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_77976135_CT_C", "variantRsId": "rs56144624", "cohortPhenotypes": ["Pol III-Related Leukodystrophies", "Pol III-related leukodystrophy"], "diseaseFromSource": "Pol III-related leukodystrophy", "diseaseFromSourceId": "CN168056", "diseaseFromSourceMappedId": "Orphanet_289494", "variantHgvsId": "NC_000010.11:g.77976147del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "Orphanet_66628", "variantHgvsId": "NC_000007.14:g.128255185G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000352847", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_128255185_G_C", "variantRsId": "rs886061975", "cohortPhenotypes": ["Leptin deficiency or dysfunction", "Obesity due to congenital leptin deficiency"], "diseaseFromSource": "Obesity due to congenital leptin deficiency", "diseaseFromSourceId": "C3554224", "diseaseFromSourceMappedId": "MONDO_0013991", "variantHgvsId": "NC_000007.14:g.128255185G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353472", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196236", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "22_40927070_C_T", "variantRsId": "rs886057511", "cohortPhenotypes": ["Nephronophthisis-like nephropathy 1"], "diseaseFromSource": "Nephronophthisis-like nephropathy 1", "diseaseFromSourceId": "C3150419", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000022.11:g.40927070C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000361861", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_36216327_A_ATGTGTGTGTGTGTGTGTG", "variantRsId": "rs10527967", "cohortPhenotypes": ["Inclusion Body Myopathy, Recessive"], "diseaseFromSource": "Inclusion Body Myopathy, Recessive", "diseaseFromSourceId": "CN239230", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36216329GT[22]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000370803", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000138738", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "4_120785105_A_G", "variantRsId": "rs375296023", "cohortPhenotypes": ["Brittle cornea syndrome 2"], "diseaseFromSource": "Brittle cornea syndrome 2", "diseaseFromSourceId": "C3280011", "diseaseFromSourceMappedId": "MONDO_0009242", "variantHgvsId": "NC_000004.12:g.120785105A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000373515", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000213281", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_114705630_T_C", "variantRsId": "rs140878667", "cohortPhenotypes": ["NRAS gene related Noonan syndrome", "Noonan syndrome 6"], "diseaseFromSource": "Noonan syndrome 6", "diseaseFromSourceId": "C2750732", "diseaseFromSourceMappedId": "MONDO_0018997", "variantHgvsId": "NC_000001.11:g.114705630T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000376102", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000174804", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "11_86955347_G_A", "variantRsId": "rs568903306", "cohortPhenotypes": ["Criswick-Schepens syndrome", "Exudative vitreoretinopathy 1", "FEVR, AUTOSOMAL DOMINANT", "Familial exudative vitreoretinopathy, autosomal dominant"], "diseaseFromSource": "Exudative vitreoretinopathy 1", "diseaseFromSourceId": "C1851402", "diseaseFromSourceMappedId": "Orphanet_891", "variantHgvsId": "NC_000011.10:g.86955347G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000382958", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "18_51084012_G_GCACACACACACACA", "variantRsId": "rs56017493", "cohortPhenotypes": ["Juvenile Polyposis"], "diseaseFromSource": "Juvenile Polyposis", "diseaseFromSourceId": "CN239474", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51084013CA[23]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "MONDO_0009615", "variantHgvsId": "NC_000002.12:g.71124216A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000385692", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000124370", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71124216_A_T", "variantRsId": "rs886056277", "cohortPhenotypes": ["METHYLMALONIC ACIDURIA III", "METHYLMALONYL-CoA RACEMASE DEFICIENCY", "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "Methylmalonyl-CoA epimerase deficiency"], "diseaseFromSource": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency", "diseaseFromSourceId": "C1855100", "diseaseFromSourceMappedId": "Orphanet_308425", "variantHgvsId": "NC_000002.12:g.71124216A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000392856", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000197102", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_102034137_T_C", "variantRsId": "rs763119040", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O", "Charcot-Marie-Tooth Neuropathy Type 2O", "Charcot-Marie-Tooth disease axonal type 2O", "Charcot-Marie-Tooth disease, axonal, type 20"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2O", "diseaseFromSourceId": "C3280220", "diseaseFromSourceMappedId": "MONDO_0013644", "variantHgvsId": "NC_000014.9:g.102034137T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000402145", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000034693", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "6_143450846_T_C", "variantRsId": "rs184934783", "cohortPhenotypes": ["Peroxisome biogenesis disorder 10A", "Peroxisome biogenesis disorder 10A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 10A (Zellweger)", "diseaseFromSourceId": "C3553999", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000006.12:g.143450846T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000405770", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000091622", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_6453135_C_T", "variantRsId": "rs28593105", "cohortPhenotypes": ["Cone-rod dystrophy 5"], "diseaseFromSource": "Cone-rod dystrophy 5", "diseaseFromSourceId": "C1832976", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000017.11:g.6453135C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000407201", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100299", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "22_50628124_C_G", "variantRsId": "rs6151406", "cohortPhenotypes": ["Arylsulfatase A Deficiency", "Cerebral sclerosis diffuse metachromatic form", "Cerebroside sulfatase deficiency", "Metachromatic leukodystrophy", "Metachromatic leukoencephalopathy", "Sulfatide lipidosis"], "diseaseFromSource": "Metachromatic leukodystrophy", "diseaseFromSourceId": "C0023522", "diseaseFromSourceMappedId": "MONDO_0018868", "variantHgvsId": "NC_000022.11:g.50628124C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000411534", "releaseDate": "2017-01-07", "targetFromSourceId": "ENSG00000072778", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_7224245_T_C", "variantRsId": "rs111851815", "cohortPhenotypes": ["VLCAD deficiency", "Very long chain acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Very long chain acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3887523", "diseaseFromSourceMappedId": "MONDO_0008723", "variantHgvsId": "NC_000017.11:g.7224245T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000414360", "releaseDate": "2017-01-09", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43081201_43091610del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468502", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_31226668_C_T", "variantRsId": "rs1060503901", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31226668C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477503", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000182389", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_151839269_C_T", "variantRsId": "rs1805029", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000002.12:g.151839269C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000490601", "releaseDate": "2017-06-03", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1", "Colorectal cancer, hereditary, nonpolyposis, type 1", "Hereditary non-polyposis colorectal cancer, type 1", "Lynch syndrome 1", "Lynch syndrome I", "MSH2-Related Hereditary Non-Polyposis Colon Cancer", "MSH2-Related Lynch Syndrome"], "diseaseFromSource": "Lynch syndrome 1", "diseaseFromSourceId": "C2936783", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000002.12:g.47439264_47450433del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000499352", "releaseDate": "2017-10-27", "targetFromSourceId": "ENSG00000091262", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Gronblad Strandberg syndrome", "Pseudoxanthoma elasticum"], "diseaseFromSource": "Pseudoxanthoma elasticum", "diseaseFromSourceId": "C0033847", "diseaseFromSourceMappedId": "Orphanet_758", "variantHgvsId": "NC_000016.10:g.16151250_16167657del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["X-linked inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000505480", "releaseDate": "2017-09-19", "targetFromSourceId": "ENSG00000102174", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "X_22245412_A_T", "variantRsId": "rs1556201217", "cohortPhenotypes": ["Familial X-linked hypophosphatemic vitamin D refractory rickets", "HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS", "Hypophosphatemia, vitamin D-resistant rickets", "Hypophosphatemic Rickets, X-Linked Dominant", "Vitamin D-resistant rickets, X-linked"], "diseaseFromSource": "Familial X-linked hypophosphatemic vitamin D refractory rickets", "diseaseFromSourceId": "C0733682", "diseaseFromSourceMappedId": "MONDO_0000044", "variantHgvsId": "NC_000023.11:g.22245412A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000533702", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000163820", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_45967491_G_A", "variantRsId": "rs149507450", "cohortPhenotypes": ["CATARACT 18, AUTOSOMAL RECESSIVE", "Cataract 18", "Cataract, autosomal recessive congenital 2"], "diseaseFromSource": "Cataract 18", "diseaseFromSourceId": "C1864908", "diseaseFromSourceMappedId": "MONDO_0005129", "variantHgvsId": "NC_000003.12:g.45967491G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", 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"variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178775672A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000552400", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178775672_A_C", "variantRsId": "rs759437501", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated 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"eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000561170", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000154803", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_17213710_T_C", "variantRsId": "rs749359334", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.17213710T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000561469", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68813352_A_G", "variantRsId": "rs1555515877", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.68813352A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000567283", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "22_28695133_CT_C", "variantRsId": "rs1555913410", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer 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["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000583774", "releaseDate": "2018-02-19", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_108294920_C_CTTTTAGTTACATTTACATTTTAGTTAA", "variantRsId": "rs1555101604", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.108294921_108294926T[4]AGTTACATTTACATTTTAGTTAATTTTAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591519", "releaseDate": "2018-04-02", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.216263262_216311879del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000591738", "releaseDate": "2018-04-02", "targetFromSourceId": "ENSG00000042781", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Usher Syndromes", "Usher syndrome", "Usher's syndrome"], "diseaseFromSource": "Usher syndrome", "diseaseFromSourceId": "C0271097", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000001.11:g.215999483_216183366del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622517", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000158813", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "X_69616478_CGTT_C", "variantRsId": "rs397516658", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000023.11:g.69616481_69616483del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622998", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000181722", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "3_114350299_G_C", "variantRsId": "rs758842476", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000003.12:g.114350299G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000623514", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000120868", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_98699486_G_C", "variantRsId": "rs181546874", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000012.12:g.98699486G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000632596", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_31170004_TTAAATG_T", "variantRsId": "rs1555607130", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31170007_31170012del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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syndrome 2", "diseaseFromSourceId": "C2936863", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000016.10:g.56485592_56485607dup"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667804", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000188603", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "16_28488663_C_T", "variantRsId": "rs1555469089", "cohortPhenotypes": ["CLN3 Disease", "CLN3-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 3", "Spielmeyer Sjogren disease"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 3", "diseaseFromSourceId": "C0751383", "diseaseFromSourceMappedId": "Orphanet_228346", "variantHgvsId": "NC_000016.10:g.28488663C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria 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"variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_196865000_A_G", "variantRsId": "rs374678391", "cohortPhenotypes": ["GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9", "Intellectual disability, autosomal recessive 42", "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Intellectual disability, autosomal recessive 42", "diseaseFromSourceId": "C4014343", "variantHgvsId": "NC_000002.12:g.196865000A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000902966", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000109101", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_28537375_C_T", "variantRsId": "rs368962978", "cohortPhenotypes": ["Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency", "Pignata Guarino syndrome", "T-cell immunodeficiency, congenital alopecia, and nail dystrophy"], "diseaseFromSource": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy", "diseaseFromSourceId": "C1866426", "diseaseFromSourceMappedId": "Orphanet_169095", "variantHgvsId": "NC_000017.11:g.28537375C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000968533", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000198734", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_169549873_T_C", "variantRsId": "rs140627208", "cohortPhenotypes": ["Factor V deficiency", "LABILE FACTOR DEFICIENCY", "OWREN PARAHEMOPHILIA", "PARAHEMOPHILIA"], "diseaseFromSource": "Factor V deficiency", "diseaseFromSourceId": "C0015499", "diseaseFromSourceMappedId": "MONDO_0009210", "variantHgvsId": "NC_000001.11:g.169549873T>C"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000984024", "releaseDate": "2019-12-23", "targetFromSourceId": "ENSG00000145495", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_10356343_A_ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT", "cohortPhenotypes": ["CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3", "Epilepsy, familial adult myoclonic, 3", "FAME3"], "diseaseFromSource": "Epilepsy, familial adult myoclonic, 3", "diseaseFromSourceId": "C3150860", "diseaseFromSourceMappedId": "MONDO_0019448", "variantHgvsId": "NC_000005.10:g.10356347ATTTT[641]"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000990957", "releaseDate": "2020-01-11", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_147928745_A_C", "variantRsId": "rs201580891", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147928745A>C"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999660", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[47]"} +{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000104936", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} +{"alleleOrigins": ["inherited", "maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000999677", "releaseDate": "2020-02-09", "targetFromSourceId": "ENSG00000267395", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_45770204_C_CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG", "cohortPhenotypes": ["Dystrophia myotonica type 1", "Myotonic dystrophy type 1", "Steinert disease", "Steinert myotonic dystrophy", "Steinert myotonic dystrophy syndrome", "Steinert's disease"], "diseaseFromSource": "Steinert myotonic dystrophy syndrome", "diseaseFromSourceId": "C3250443", "diseaseFromSourceMappedId": "Orphanet_273", "variantHgvsId": "NC_000019.10:g.45770207_45770209GCA[49]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001002696", "releaseDate": "2020-02-15", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "8_99661492_G_C", "variantRsId": "rs750003804", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99661492G>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003635", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63439680_T_A", "variantRsId": "rs1600755440", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000020.11:g.63439680T>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Congenital cerebellar hypoplasia", "diseaseFromSourceId": "C5231391", "diseaseFromSourceMappedId": "HP_0001321", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "HP_0001332", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Dystonic disorder", "diseaseFromSourceId": "C0013421", "diseaseFromSourceMappedId": "MONDO_0003441", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Global developmental delay", "diseaseFromSourceId": "C0557874", "diseaseFromSourceMappedId": "HP_0001263", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Visual impairment", "diseaseFromSourceId": "C3665347", "diseaseFromSourceMappedId": "HP_0000505", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001003867", "releaseDate": "2020-02-27", "targetFromSourceId": "ENSG00000147044", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay", "Congenital cerebellar hypoplasia", "Dystonia", "Dystonic disorder", "Generalized hypotonia", "Global developmental delay", "Impaired vision", "Isolated cerebellar hypoplasia/agenesis", "Visual impairment", "vision problems"], "diseaseFromSource": "Generalized hypotonia", "diseaseFromSourceId": "C1858120", "diseaseFromSourceMappedId": "HP_0001290", "variantHgvsId": "NC_000023.11:g.41506506_41542250del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Cystic fibrosis", "diseaseFromSourceId": "C0010674", "diseaseFromSourceMappedId": "MONDO_0009061", "variantHgvsId": "NC_000007.14:g.117536629C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001004239", "releaseDate": "2020-03-01", "targetFromSourceId": "ENSG00000001626", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "7_117536629_C_G", "variantRsId": "rs193922532", "cohortPhenotypes": ["Congenital bilateral aplasia of vas deferens from CFTR mutation", "Cystic fibrosis", "Mucoviscidosis"], "diseaseFromSource": "Congenital bilateral aplasia of vas deferens from CFTR mutation", "diseaseFromSourceId": "C0403814", "diseaseFromSourceMappedId": "MONDO_0010178", "variantHgvsId": "NC_000007.14:g.117536629C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010883", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000119514", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_98840095_C_T", "variantRsId": "rs1297882734", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.98840095C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001011480", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95477637_C_T", "variantRsId": "rs1588600742", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95477637C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001020798", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000135446", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57751081_G_C", "variantRsId": "rs587778185", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.57751081G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001026095", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_132677582_TG_T", "variantRsId": "rs1593081630", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000012.12:g.132677584del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027600", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000109320", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_102537884_TG_T", "variantRsId": "rs1578735747", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000004.12:g.102537885del"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001030909", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000121067", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_49619264_T_TC", "variantRsId": "rs2072163565", "cohortPhenotypes": ["Malignant tumor of prostate", "Prostate cancer"], "diseaseFromSource": "Malignant tumor of prostate", "diseaseFromSourceId": "C0376358", "diseaseFromSourceMappedId": "EFO_0001663", "variantHgvsId": "NC_000017.11:g.49619265dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "MONDO_0014662", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001051882", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000130711", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_130681605_T_TCGCCGCCGCCGCCGCCGC", "variantRsId": "rs752427775", "cohortPhenotypes": ["Congenital insensitivity to pain-hypohidrosis syndrome", "HSAN VIII", "Neuropathy, hereditary sensory and autonomic, type VIII"], "diseaseFromSource": "Congenital insensitivity to pain-hypohidrosis syndrome", "diseaseFromSourceId": "C4225308", "diseaseFromSourceMappedId": "Orphanet_140477", "variantHgvsId": "NC_000009.12:g.130681606_130681608CGC[18]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001060849", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000277586", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "8_24952904_T_TCACCTC", "variantRsId": "rs777344234", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E", "CMT 2E", "Charcot-Marie-Tooth disease type 2E", "Charcot-Marie-Tooth disease, axonal, Type 2E"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2E", "diseaseFromSourceId": "C1843225", "diseaseFromSourceMappedId": "MONDO_0015626", "variantHgvsId": "NC_000008.11:g.24952906_24952911dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001069843", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000047457", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_149188097_C_T", "variantRsId": "rs1158598597", "cohortPhenotypes": ["Aceruloplasminemia", "Ceruloplasmin deficiency", "Deficiency of ceruloplasmin", "Deficiency of ferroxidase", "Familial apoceruloplasmin deficiency", "Hereditary ceruloplasmin deficiency"], "diseaseFromSource": "Deficiency of ferroxidase", "diseaseFromSourceId": "C0878682", "diseaseFromSourceMappedId": "MONDO_0011426", "variantHgvsId": "NC_000003.12:g.149188097C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001070333", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_113357180_G_T", "variantRsId": "rs2095842493", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000004.12:g.113357180G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["27599773", "31705726"], "studyId": "RCV001090034", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000147408", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Skeletal dysplasia, mild, with joint laxity and advanced bone age"], "diseaseFromSource": "Skeletal dysplasia, mild, with joint laxity and advanced bone age", "diseaseFromSourceId": "C5394341", "diseaseFromSourceMappedId": "MONDO_0030029", "variantHgvsId": "NC_000008.11:g.19411890_19467180del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001102435", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "1_99923371_A_C", "variantRsId": "rs111689090", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99923371A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001103379", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000109927", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_121118604_G_T", "variantRsId": "rs145913741", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 12", "DEAFNESS, AUTOSOMAL DOMINANT 8", "Deafness, autosomal dominant 12"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832187", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000011.10:g.121118604G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001110445", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133812", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_9845672_C_T", "variantRsId": "rs1856494115", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CMT 4B2", "Charcot-Marie-Tooth Neuropathy Type 4B2", "Charcot-Marie-Tooth disease type 4B2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4B2", "diseaseFromSourceId": "C1858278", "diseaseFromSourceMappedId": "MONDO_0011475", "variantHgvsId": "NC_000011.10:g.9845672C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001111544", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000133104", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_36304571_C_T", "variantRsId": "rs150163770", "cohortPhenotypes": ["Autosomal recessive spastic paraplegia type 20", "Spastic paraparesis childhood-onset with distal muscle wasting", "Spastic paraplegia 20", "Spastic paraplegia autosomal recessive Troyer type", "Troyer syndrome"], "diseaseFromSource": "Troyer syndrome", "diseaseFromSourceId": "C0393559", "diseaseFromSourceMappedId": "MONDO_0010156", "variantHgvsId": "NC_000013.11:g.36304571C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001116144", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_88826736_G_A", "variantRsId": "rs368784505", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88826736G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "HP_0003150", "variantHgvsId": "NC_000015.10:g.76283762G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001116620", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140374", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_76283762_G_C", "variantRsId": "rs202121622", "cohortPhenotypes": ["Ethylmalonic-adipicaciduria", "GA 2", "GA II", "Glutaric acidemia type 2", "Glutaric acidemia type II", "Glutaric aciduria, type 2", "Multiple acyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Multiple acyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C0268596", "diseaseFromSourceMappedId": "MONDO_0009282", "variantHgvsId": "NC_000015.10:g.76283762G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001119700", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140326", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_42735170_C_T", "variantRsId": "rs185031946", "cohortPhenotypes": ["Congenital dyserythropoietic anemia, type I", "Dyserythropoietic anemia, congenital type 1"], "diseaseFromSource": "Congenital dyserythropoietic anemia, type I", "diseaseFromSourceId": "C0271933", "diseaseFromSourceMappedId": "Orphanet_98869", "variantHgvsId": "NC_000015.10:g.42735170C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "MONDO_0013176", "variantHgvsId": "NC_000015.10:g.99972113T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001121777", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000140470", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "15_99972113_T_C", "variantRsId": "rs945247732", "cohortPhenotypes": ["Weill-Marchesani 4 syndrome, recessive", "Weill-Marchesani syndrome 4", "Weill-Marchesani-like syndrome"], "diseaseFromSource": "Weill-Marchesani 4 syndrome, recessive", "diseaseFromSourceId": "C2750787", "diseaseFromSourceMappedId": "Orphanet_3449", "variantHgvsId": "NC_000015.10:g.99972113T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001123999", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000184640", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_77499030_C_T", "variantRsId": "rs773235757", "cohortPhenotypes": ["Amyotrophic neuralgia", "Amyotrophy, hereditary neuralgic", "Amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "Brachial plexus neuropathy, hereditary", "Neuritis with brachial predilection"], "diseaseFromSource": "Amyotrophic neuralgia", "diseaseFromSourceId": "C1834304", "diseaseFromSourceMappedId": "MONDO_0017362", "variantHgvsId": "NC_000017.11:g.77499030C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001124072", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000004939", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_44249713_C_T", "variantRsId": "rs1174269872", "cohortPhenotypes": ["Autosomal dominant distal renal tubular acidosis", "RENAL TUBULAR ACIDOSIS, DISTAL, 1", "RTA, classic type", "RTA, distal type, autosomal dominant", "RTA, gradient type", "Renal Tubular Acidosis, Type I", "Renal tubular acidosis 1"], "diseaseFromSource": "Autosomal dominant distal renal tubular acidosis", "diseaseFromSourceId": "CN280572", "diseaseFromSourceMappedId": "MONDO_0008368", "variantHgvsId": "NC_000017.11:g.44249713C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001126371", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000166685", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_73201307_A_G", "variantRsId": "rs779677895", "cohortPhenotypes": ["CDG 2G", "CDG IIg", "CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME", "COG1 congenital disorder of glycosylation", "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "Congenital disorder of glycosylation type 2G"], "diseaseFromSource": "COG1 congenital disorder of glycosylation", "diseaseFromSourceId": "C2931011", "diseaseFromSourceMappedId": "MONDO_0012637", "variantHgvsId": "NC_000017.11:g.73201307A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127077", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000167210", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_46529203_G_A", "variantRsId": "rs200819355", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 77", "Deafness, autosomal recessive 77"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 77", "diseaseFromSourceId": "C2746083", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000018.10:g.46529203G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001127542", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183287", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "18_59432669_C_G", "variantRsId": "rs1909983760", "cohortPhenotypes": ["Hennekam lymphangiectasia-lymphedema syndrome 1", "LYMPHATIC DYSPLASIA, GENERALIZED"], "diseaseFromSource": "Hennekam lymphangiectasia-lymphedema syndrome 1", "diseaseFromSourceId": "C4012050", "diseaseFromSourceMappedId": "MONDO_0016256", "variantHgvsId": "NC_000018.10:g.59432669C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001128846", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178570877_A_G", "variantRsId": "rs1707950573", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178570877A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "Orphanet_98912", "variantHgvsId": "NC_000002.12:g.178730081T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133636", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_178730081_T_C", "variantRsId": "rs376899412", "cohortPhenotypes": ["Distal myopathy Markesbery-Griggs type", "Tibial muscular dystrophy", "Tibial muscular dystrophy, tardive", "UDD Myopathy", "Udd Distal Myopathy"], "diseaseFromSource": "Tibial muscular dystrophy", "diseaseFromSourceId": "C1838244", "diseaseFromSourceMappedId": "MONDO_0010870", "variantHgvsId": "NC_000002.12:g.178730081T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001134935", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "2_166375738_C_A", "variantRsId": "rs569406301", "cohortPhenotypes": ["PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING", "Paroxysmal extreme pain disorder", "RECTAL PAIN, FAMILIAL"], "diseaseFromSource": "Paroxysmal extreme pain disorder", "diseaseFromSourceId": "C1833661", "diseaseFromSourceMappedId": "MONDO_0008179", "variantHgvsId": "NC_000002.12:g.166375738C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001135688", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "19_7114304_G_C", "variantRsId": "rs577444458", "cohortPhenotypes": ["Mendenhall Syndrome", "Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities", "Pineal hyperplasia AND diabetes mellitus syndrome", "Rabson-Mendenhall Syndrome"], "diseaseFromSource": "Pineal hyperplasia AND diabetes mellitus syndrome", "diseaseFromSourceId": "C0271695", "diseaseFromSourceMappedId": "MONDO_0009874", "variantHgvsId": "NC_000019.10:g.7114304G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001136266", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178546776_A_G", "variantRsId": "rs369870689", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178546776A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001138227", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_10648021_C_A", "variantRsId": "rs1337206941", "cohortPhenotypes": ["Isolated Nonsyndromic Congenital Heart Disease"], "diseaseFromSource": "Isolated Nonsyndromic Congenital Heart Disease", "diseaseFromSourceId": "CN239319", "variantHgvsId": "NC_000020.11:g.10648021C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001140928", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000101292", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_5302398_C_A", "variantRsId": "rs143647776", "cohortPhenotypes": ["HYPOGONADOTROPIC HYPOGONADISM 3 WITH ANOSMIA", "Hypogonadotropic hypogonadism 3 with or without anosmia", "Kallmann syndrome 3", "PROKR2-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency"], "diseaseFromSource": "Hypogonadotropic hypogonadism 3 with or without anosmia", "diseaseFromSourceId": "C3550478", "diseaseFromSourceMappedId": "Orphanet_478", "variantHgvsId": "NC_000020.11:g.5302398C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001142553", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000172071", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_88557632_T_G", "variantRsId": "rs1474906844", "cohortPhenotypes": ["Wolcott Rallison syndrome", "Wolcott-Rallison dysplasia"], "diseaseFromSource": "Wolcott-Rallison dysplasia", "diseaseFromSourceId": "C0432217", "diseaseFromSourceMappedId": "MONDO_0009192", "variantHgvsId": "NC_000002.12:g.88557632T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "MONDO_0009901", "variantHgvsId": "NC_000021.9:g.41740634C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001143835", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000183421", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "21_41740634_C_T", "variantRsId": "rs533596469", "cohortPhenotypes": ["BARTSOCAS-PAPAS SYNDROME 1", "Bartsocas-Papas syndrome", "MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE", "POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE 1", "PTERYGIUM, POPLITEAL, LETHAL TYPE", "Popliteal pterygium syndrome lethal type"], "diseaseFromSource": "Bartsocas-Papas syndrome", "diseaseFromSourceId": "C1849718", "diseaseFromSourceMappedId": "Orphanet_1234", "variantHgvsId": "NC_000021.9:g.41740634C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001146411", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000113966", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_97788005_G_A", "variantRsId": "rs142258123", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.97788005G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148356", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163666", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "3_57199924_C_T", "variantRsId": "rs368171529", "cohortPhenotypes": ["De morsier syndrome", "Hypopituitarism and septooptic 'dysplasia'", "Septo-optic dysplasia", "Septo-optic dysplasia sequence", "Septo-optic dysplasia with growth hormone deficiency"], "diseaseFromSource": "Septo-optic dysplasia sequence", "diseaseFromSourceId": "C0338503", "diseaseFromSourceMappedId": "Orphanet_3157", "variantHgvsId": "NC_000003.12:g.57199924C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001149041", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000163817", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_45758959_C_T", "variantRsId": "rs191934337", "cohortPhenotypes": ["GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS", "GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS", "Hyperglycinuria", "IMINOGLYCINURIA TYPE II"], "diseaseFromSource": "Hyperglycinuria", "diseaseFromSourceId": "C0543541", "diseaseFromSourceMappedId": "HP_0003108", "variantHgvsId": "NC_000003.12:g.45758959C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001150592", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000121207", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_154750256_C_T", "variantRsId": "rs745651761", "cohortPhenotypes": ["Leber congenital amaurosis 14"], "diseaseFromSource": "Leber congenital amaurosis 14", "diseaseFromSourceId": "C2750063", "diseaseFromSourceMappedId": "MONDO_0018998", "variantHgvsId": "NC_000004.12:g.154750256C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "MONDO_0013731", "variantHgvsId": "NC_000005.10:g.127459867G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153501", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000145794", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_127459867_G_C", "variantRsId": "rs75434042", "cohortPhenotypes": ["MEGF10-Related Myopathy", "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"], "diseaseFromSource": "MEGF10-Related Myopathy", "diseaseFromSourceId": "C3280679", "diseaseFromSourceMappedId": "Orphanet_98920", "variantHgvsId": "NC_000005.10:g.127459867G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001153859", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000135604", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_144189005_T_C", "variantRsId": "rs895149662", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 4"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 4", "diseaseFromSourceId": "C1863728", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000006.12:g.144189005T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001158788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000242802", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "7_4794226_A_G", "variantRsId": "rs62453211", "cohortPhenotypes": ["Hereditary spastic paraplegia 48", "Spastic paraplegia 48", "Spastic paraplegia 48, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 48", "diseaseFromSourceId": "C3150901", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000007.14:g.4794226A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "Orphanet_861", "variantHgvsId": "NC_000006.12:g.43517306G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160605", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000171453", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_43517306_G_A", "variantRsId": "rs948560181", "cohortPhenotypes": ["Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive", "Treacher Collins syndrome 3"], "diseaseFromSource": "Treacher Collins syndrome 3", "diseaseFromSourceId": "C1855433", "diseaseFromSourceMappedId": "MONDO_0002457", "variantHgvsId": "NC_000006.12:g.43517306G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "MONDO_0007080", "variantHgvsId": "NC_000008.11:g.142917684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001160997", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000179142", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_142917684_G_A", "variantRsId": "rs747248100", "cohortPhenotypes": ["ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME", "ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE", "FH I", "GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM", "Glucocorticoid-remediable aldosteronism", "Hyperaldosteronism, familial, type I"], "diseaseFromSource": "Glucocorticoid-remediable aldosteronism", "diseaseFromSourceId": "C1260386", "diseaseFromSourceMappedId": "Orphanet_403", "variantHgvsId": "NC_000008.11:g.142917684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166312", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000147894", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_27547172_T_C", "variantRsId": "rs184151041", "cohortPhenotypes": ["Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "Frontotemporal dementia with motor neuron disease 1"], "diseaseFromSource": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1", "diseaseFromSourceId": "C3888102", "diseaseFromSourceMappedId": "MONDO_0007105", "variantHgvsId": "NC_000009.12:g.27547172T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001166842", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000169071", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_91731104_G_A", "variantRsId": "rs1837228232", "cohortPhenotypes": ["Autosomal recessive Robinow syndrome", "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA", "COVESDEM SYNDROME", "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1"], "diseaseFromSource": "Autosomal recessive Robinow syndrome", "diseaseFromSourceId": "C5399974", "diseaseFromSourceMappedId": "MONDO_0009999", "variantHgvsId": "NC_000009.12:g.91731104G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169811", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000178445", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_6532521_A_C", "variantRsId": "rs999698910", "cohortPhenotypes": ["Glycine encephalopathy", "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia"], "diseaseFromSource": "Non-ketotic hyperglycinemia", "diseaseFromSourceId": "C0751748", "diseaseFromSourceMappedId": "MONDO_0011612", "variantHgvsId": "NC_000009.12:g.6532521A>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001174370", "releaseDate": "2020-06-14", "targetFromSourceId": "ENSG00000171105", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_7141784_G_A", "variantRsId": "rs149536206", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000019.10:g.7141784G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001178962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11116156_T_G", "variantRsId": "rs2077459810", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11116156T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001179648", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_52403846_A_G", "variantRsId": "rs1553644986", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.52403846A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001180540", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55046605_T_C", "variantRsId": "rs748403083", "cohortPhenotypes": ["Familial hypercholesterolemia"], "diseaseFromSource": "Familial hypercholesterolemia", "diseaseFromSourceId": "C0020445", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55046605T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001187337", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_61743154_CA_C", "variantRsId": "rs1474570916", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61743155del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001196131", "releaseDate": "2020-07-04", "targetFromSourceId": "ENSG00000104728", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_1864432_A_G", "variantRsId": "rs746857277", "cohortPhenotypes": ["Autosomal dominant slowed nerve conduction velocity"], "diseaseFromSource": "Autosomal dominant slowed nerve conduction velocity", "diseaseFromSourceId": "C1842357", "diseaseFromSourceMappedId": "MONDO_0011998", "variantHgvsId": "NC_000008.11:g.1864432A>G"} +{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000006.12:g.156778479G>C"} +{"alleleOrigins": ["uniparental"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001251897", "releaseDate": "2020-08-15", "targetFromSourceId": "ENSG00000049618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_156778479_G_C", "variantRsId": "rs1778855554", "cohortPhenotypes": ["Intellectual disability", "Intellectual functioning disability", "intellectual disabilities"], "diseaseFromSource": "Intellectual disability", "diseaseFromSourceId": "C3714756", "diseaseFromSourceMappedId": "HP_0001249", "variantHgvsId": "NC_000006.12:g.156778479G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001253978", "releaseDate": "2020-08-21", "targetFromSourceId": "ENSG00000120156", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "9_27206796_A_G", "variantRsId": "rs779970349", "cohortPhenotypes": ["Multiple cutaneous and mucosal venous malformations"], "diseaseFromSource": "Multiple cutaneous and mucosal venous malformations", "diseaseFromSourceId": "C1838437", "diseaseFromSourceMappedId": "Orphanet_2451", "variantHgvsId": "NC_000009.12:g.27206796A>G"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001255967", "releaseDate": "2020-09-19", "targetFromSourceId": "ENSG00000225968", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["ELFN1-related condition"], "diseaseFromSource": "ELFN1-related condition", "variantHgvsId": "NC_000007.14:g.1687729_1779914del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266126", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000275410", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_37739433_CACTT_C", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000017.11:g.37739436_37739439del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001276465", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000158169", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_95247444_T_C", "variantRsId": "rs1064793110", "cohortPhenotypes": ["FACC", "FANCONI PANCYTOPENIA, TYPE 3", "Fanconi anemia complementation group C", "Fanconi anemia, group C"], "diseaseFromSource": "Fanconi anemia complementation group C", "diseaseFromSourceId": "C3468041", "diseaseFromSourceMappedId": "MONDO_0009213", "variantHgvsId": "NC_000009.12:g.95247444T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001278266", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71778253_T_C", "variantRsId": "rs762613557", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.71778253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71551711C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279898", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_71551711_C_T", "variantRsId": "rs2090960824", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71551711C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30822429", "32098969"], "studyId": "RCV001290959", "releaseDate": "2021-02-13", "targetFromSourceId": "ENSG00000130475", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "19_17783101_T_TG", "variantRsId": "rs2093571190", "cohortPhenotypes": ["Immunodeficiency 76"], "diseaseFromSource": "Immunodeficiency 76", "diseaseFromSourceId": "C5543004", "variantHgvsId": "NC_000019.10:g.17783102dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309369", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000155975", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_17274740_A_G", "variantRsId": "rs371463914", "cohortPhenotypes": ["Hereditary spastic paraplegia 53", "Spastic paraplegia 53, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 53", "diseaseFromSourceId": "C3539494", "diseaseFromSourceMappedId": "Orphanet_319199", "variantHgvsId": "NC_000008.11:g.17274740A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001312346", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000185379", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_35103291_A_G", "variantRsId": "rs2091560784", "cohortPhenotypes": ["Breast-ovarian cancer, familial 4", "Breast-ovarian cancer, familial, susceptibility to, 4"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 4", "diseaseFromSourceId": "C3280345", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.35103291A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001321429", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000176165", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_28767506_C_T", "variantRsId": "rs1381438340", "cohortPhenotypes": ["Rett syndrome, congenital variant"], "diseaseFromSource": "Rett syndrome, congenital variant", "diseaseFromSourceId": "C3150705", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000014.9:g.28767506C>T"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000111860", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} +{"alleleOrigins": ["paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001330958", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000198523", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_118558982_C_T", "variantRsId": "rs397516786", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 18", "Hypertrophic cardiomyopathy 18"], "diseaseFromSource": "Hypertrophic cardiomyopathy 18", "diseaseFromSourceId": "C3151265", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000006.12:g.118558982C>T"} +{"alleleOrigins": ["germline", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001336651", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000165970", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_20652404_T_C", "variantRsId": "rs142855098", "cohortPhenotypes": ["HYPEREKPLEXIA 3, AUTOSOMAL DOMINANT", "HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE", "Hyperekplexia 3"], "diseaseFromSource": "Hyperekplexia 3", "diseaseFromSourceId": "C3553288", "diseaseFromSourceMappedId": "MONDO_0021022", "variantHgvsId": "NC_000011.10:g.20652404T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001374818", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "15_48520658_C_T", "cohortPhenotypes": ["Isolated thoracic aortic aneurysm"], "diseaseFromSource": "Isolated thoracic aortic aneurysm", "variantHgvsId": "NC_000015.10:g.48520658C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000105618", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376222", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000237017", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "19_54123761_G_GGAGGAGGAGCTCC", "cohortPhenotypes": ["RP 11", "Retinitis pigmentosa 11"], "diseaseFromSource": "Retinitis pigmentosa 11", "diseaseFromSourceId": "C1838601", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000019.10:g.54123762_54123772GAG[3]CTCCGAGGAGGAGCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377853", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000145375", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "4_122979387_G_T", "cohortPhenotypes": ["Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES"], "diseaseFromSource": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome", "diseaseFromSourceId": "C4225276", "variantHgvsId": "NC_000004.12:g.122979387G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001450487", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_37011847_T_C", "variantRsId": "rs754102133", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000003.12:g.37011847T>C"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526477", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166038074_A_G", "cohortPhenotypes": ["GEFS+, TYPE 2", "Generalized epilepsy with febrile seizures plus, type 2"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 2", "diseaseFromSourceId": "C1858673", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166038074A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001526726", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000137474", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_77157310_A_G", "cohortPhenotypes": ["Retinitis pigmentosa and congenital deafness", "Usher syndrome type 1", "Usher syndrome, type I, French variety"], "diseaseFromSource": "Usher syndrome type 1", "diseaseFromSourceId": "C1568247", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000011.10:g.77157310A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001537974", "releaseDate": "2021-07-24", "targetFromSourceId": "ENSG00000107521", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_98429485_G_A", "cohortPhenotypes": ["DELTA STORAGE POOL DISEASE", "Hermansky-Pudlak syndrome 1"], "diseaseFromSource": "Hermansky-Pudlak syndrome 1", "diseaseFromSourceId": "C2931875", "diseaseFromSourceMappedId": "MONDO_0019312", "variantHgvsId": "NC_000010.11:g.98429485G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001542382", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000054983", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Galactocerebrosidase deficiency", "Galactosylceramide beta-galactosidase deficiency", "Globoid cell leukoencephalopathy", "Krabbe leukodystrophy", "Leukodystrophy, Globoid Cell"], "diseaseFromSource": "Galactosylceramide beta-galactosidase deficiency", "diseaseFromSourceId": "C0023521", "diseaseFromSourceMappedId": "MONDO_0009499", "variantHgvsId": "NC_000014.9:g.87925163_87956828del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001542680", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000139132", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_32598579_TAGATC_T", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H", "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H", "Charcot-Marie-Tooth Neuropathy Type 4H", "Charcot-Marie-Tooth disease type 4H"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4H", "diseaseFromSourceId": "C1836336", "diseaseFromSourceMappedId": "MONDO_0012250", "variantHgvsId": "NC_000012.12:g.32598582_32598586del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000141012", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001543344", "releaseDate": "2021-07-30", "targetFromSourceId": "ENSG00000167515", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_88856849_C_T", "cohortPhenotypes": ["Galactosamine-6-sulfatase deficiency", "MPS 4A", "MPS IVA", "Morquio A disease", "Morquio syndrome A", "Morquio syndrome A, mild", "Mucopolysaccharidosis Type IVA", "Mucopolysaccharidosis type IV A", "Mucopolysaccharidosis, MPS-IV-A"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-IV-A", "diseaseFromSourceId": "C0086651", "diseaseFromSourceMappedId": "MONDO_0009659", "variantHgvsId": "NC_000016.10:g.88856849C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["30767057"], "studyId": "RCV001543594", "releaseDate": "2021-07-31", "targetFromSourceId": "ENSG00000197467", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "10_69940993_TTC_CCCT", "cohortPhenotypes": ["Congenital myasthenic syndrome 19"], "diseaseFromSource": "Congenital myasthenic syndrome 19", "diseaseFromSourceId": "C4225235", "variantHgvsId": "NC_000010.11:g.69940993_69940995delinsCCCT"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25390489C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001549198", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_25390489_C_G", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25390489C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "MONDO_0009676", "variantHgvsId": "NC_000002.12:g.71668829C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001563805", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000135636", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_71668829_C_T", "variantRsId": "rs369627849", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2B", "Limb-girdle muscular dystrophy, type 2B", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2", "Muscular dystrophy, limb-girdle, type 3"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2B", "diseaseFromSourceId": "C1850889", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.71668829C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["20020534"], "studyId": "RCV001580158", "releaseDate": "2021-08-27", "targetFromSourceId": "ENSG00000005961", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_44374732_G_A", "variantRsId": "rs80002943", "cohortPhenotypes": ["Glanzmann thrombasthenia 1"], "diseaseFromSource": "Glanzmann thrombasthenia 1", "diseaseFromSourceId": "CN300358", "diseaseFromSourceMappedId": "MONDO_0031332", "variantHgvsId": "NC_000017.11:g.44374732G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001770008", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000156531", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_134377702_G_T", "cohortPhenotypes": ["Borjeson Syndrome", "Borjeson-Forssman-Lehmann syndrome", "MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS", "MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE", "Mental deficiency, epilepsy and endocrine disorders"], "diseaseFromSource": "Borjeson-Forssman-Lehmann syndrome", "diseaseFromSourceId": "C0265339", "diseaseFromSourceMappedId": "MONDO_0010537", "variantHgvsId": "NC_000023.11:g.134377702G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001783910", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000100106", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_37724732_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 28", "Deafness, autosomal recessive 28"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 28", "diseaseFromSourceId": "C1853276", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000022.11:g.37724732C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "MONDO_0019145", "variantHgvsId": "NC_000002.12:g.127428543G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001801320", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115718", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_127428543_G_A", "cohortPhenotypes": ["PROC DEFICIENCY, AUTOSOMAL DOMINANT", "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "Thrombophilia due to protein C deficiency, autosomal dominant", "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"], "diseaseFromSource": "Thrombophilia due to protein C deficiency, autosomal dominant", "diseaseFromSourceId": "C2674321", "diseaseFromSourceMappedId": "Orphanet_745", "variantHgvsId": "NC_000002.12:g.127428543G>A"} +{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001807686", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000141052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "17_12744433_TTAAG_T", "cohortPhenotypes": ["Megabladder, congenital"], "diseaseFromSource": "Megabladder, congenital", "diseaseFromSourceId": "C5231472", "diseaseFromSourceMappedId": "EFO_0010655", "variantHgvsId": "NC_000017.11:g.12744435AAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_169446", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001857835", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000105397", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "19_10357853_TGCTTAG_T", "variantRsId": "rs773966828", "cohortPhenotypes": ["HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE", "Immunodeficiency 35", "Susceptibility to infection due to TYK2 deficiency", "TYK2 DEFICIENCY", "Tyrosine kinase 2 deficiency"], "diseaseFromSource": "Immunodeficiency 35", "diseaseFromSourceId": "C1969086", "diseaseFromSourceMappedId": "Orphanet_331226", "variantHgvsId": "NC_000019.10:g.10357857_10357862del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860713", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905935_G_A", "variantRsId": "rs1588310178", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905935G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001865311", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "11_108243952_G_A", "variantRsId": "rs778624615", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108243952G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001866374", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGTAGCTTCACAGAGT", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[4]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001877430", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_12007101_T_G", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.12007101T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001882243", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000138686", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_121847458_G_T", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000004.12:g.121847458G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C3553709", "diseaseFromSourceMappedId": "MONDO_0013890", "variantHgvsId": "NC_000016.10:g.724754C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001893529", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000162004", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_724754_C_A", "cohortPhenotypes": ["Congenital myopathy with internal nuclei and atypical cores", "Myopathy, centronuclear, 4"], "diseaseFromSource": "Congenital myopathy with internal nuclei and atypical cores", "diseaseFromSourceId": "C3553709", "diseaseFromSourceMappedId": "Orphanet_595", "variantHgvsId": "NC_000016.10:g.724754C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001897586", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000117984", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_1761355_G_A", "cohortPhenotypes": ["Ceroid storage disease", "Neuronal ceroid lipofuscinosis"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis", "diseaseFromSourceId": "C0027877", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000011.10:g.1761355G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 7B", "diseaseFromSourceId": "C1843315", "variantHgvsId": "NC_000002.12:g.74370827T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 1", "diseaseFromSourceId": "C1862939", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000002.12:g.74370827T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001901774", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000204843", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "2_74370827_T_C", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL", "Amyotrophic lateral sclerosis type 1", "HMN VIIB", "LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB", "Neuronopathy, distal hereditary motor, type 7B", "Parkinsonism with alveolar hypoventilation and mental depression", "Perry syndrome"], "diseaseFromSource": "Perry syndrome", "diseaseFromSourceId": "C1868594", "diseaseFromSourceMappedId": "MONDO_0008201", "variantHgvsId": "NC_000002.12:g.74370827T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001904797", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "1_10376541_A_G", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10376541A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908759", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "8_76983607_AT_A", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983608del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001909944", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000124140", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_46035866_G_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 34", "Early infantile epileptic encephalopathy 34"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 34", "diseaseFromSourceId": "C4225257", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.46035866G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "Orphanet_567", "variantHgvsId": "NC_000022.11:g.19764185G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001910376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000184058", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19764185_G_A", "cohortPhenotypes": ["Catch22", "DiGeorge anomaly", "DiGeorge sequence", "DiGeorge syndrome", "Familial third and fourth pharyngeal pouch syndrome", "Hypoplasia of thymus and parathyroid", "Pharyngeal pouch syndrome", "Third and fourth pharyngeal pouch syndrome", "Thymic aplasia syndrome"], "diseaseFromSource": "DiGeorge syndrome", "diseaseFromSourceId": "C0012236", "diseaseFromSourceMappedId": "MONDO_0018923", "variantHgvsId": "NC_000022.11:g.19764185G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001916404", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151348", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_44108183_C_A", "cohortPhenotypes": ["EXOSTOSES, MULTIPLE, TYPE II", "Exostoses, multiple, type 2"], "diseaseFromSource": "Exostoses, multiple, type 2", "diseaseFromSourceId": "C1851413", "diseaseFromSourceMappedId": "MONDO_0007586", "variantHgvsId": "NC_000011.10:g.44108183C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001925894", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476350_C_G", "cohortPhenotypes": ["Cranioectodermal dysplasia 1", "LEVIN SYNDROME I", "Levin syndrome 1"], "diseaseFromSource": "Cranioectodermal dysplasia 1", "diseaseFromSourceId": "C0432235", "diseaseFromSourceMappedId": "MONDO_0009032", "variantHgvsId": "NC_000003.12:g.129476350C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001929939", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000136928", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_98708574_G_C", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000009.12:g.98708574G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001932674", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and methylmalonic acidemia", "diseaseFromSourceId": "C3280314", "diseaseFromSourceMappedId": "MONDO_0013661", "variantHgvsId": "NC_000016.10:g.89101089T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001932674", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000176715", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "16_89101089_T_A", "cohortPhenotypes": ["Combined malonic and methylmalonic acidemia", "Combined malonic and methylmalonic aciduria"], "diseaseFromSource": "Combined malonic and 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"targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99913677_G_A", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99913677G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001940016", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131844", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_71652750_G_C", "cohortPhenotypes": ["3 alpha methylcrotonyl-CoA carboxylase 2 deficiency", "3 alpha 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syndrome", "diseaseFromSourceId": "C0007965", "diseaseFromSourceMappedId": "Orphanet_167", "variantHgvsId": "NC_000001.11:g.235808563A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001970992", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_102897321_C_A", "cohortPhenotypes": ["Herpes simplex encephalitis, susceptibility to, 3"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 3", "diseaseFromSourceId": "C3553868", "diseaseFromSourceMappedId": "MONDO_0013920", "variantHgvsId": "NC_000014.9:g.102897321C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001970992", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131323", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_102897321_C_A", "cohortPhenotypes": ["Herpes simplex encephalitis, susceptibility to, 3"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 3", "diseaseFromSourceId": "C3553868", "diseaseFromSourceMappedId": "Orphanet_1930", "variantHgvsId": "NC_000014.9:g.102897321C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001973008", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131089", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_63674039_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 8", "Early infantile epileptic encephalopathy 8", "HYPEREKPLEXIA AND EPILEPSY"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 8", "diseaseFromSourceId": "C1845102", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000023.11:g.63674039T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001986948", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000108231", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_93758191_T_G", "cohortPhenotypes": ["Autosomal dominant epilepsy with auditory features"], "diseaseFromSource": "Autosomal dominant epilepsy with auditory features", "diseaseFromSourceId": "C1838062", "diseaseFromSourceMappedId": "MONDO_0010898", "variantHgvsId": "NC_000010.11:g.93758191T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002006942", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68939703_C_G", "cohortPhenotypes": ["Autosomal recessive distal spinal muscular atrophy 1", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S", "HMN VI", "Neuronopathy, distal hereditary motor, type VI", "Neuronopathy, severe infantile axonal, with respiratory failure", "SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC", "Severe infantile axonal neuropathy with respiratory failure", "Spinal muscular atrophy with respiratory distress 1"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2S", "diseaseFromSourceId": "C4015349", "variantHgvsId": "NC_000011.10:g.68939703C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002006942", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68939703_C_G", "cohortPhenotypes": ["Autosomal recessive distal spinal muscular atrophy 1", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S", "HMN VI", "Neuronopathy, distal hereditary motor, type VI", "Neuronopathy, severe infantile axonal, with respiratory failure", "SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC", "Severe infantile axonal neuropathy with respiratory failure", "Spinal muscular atrophy with respiratory distress 1"], "diseaseFromSource": "Autosomal recessive distal spinal muscular atrophy 1", "diseaseFromSourceId": "C1858517", "diseaseFromSourceMappedId": "MONDO_0011436", "variantHgvsId": "NC_000011.10:g.68939703C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010659", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_73572934_A_G", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73572934A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000001630", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "7_92097231_A_T", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002011699", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000127914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_92097231_A_T", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.92097231A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002014266", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "16_2071891_C_CCTACTCCCTGCT", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2071894_2071905dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000115295", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002016832", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000171094", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_29193462_G_C", "cohortPhenotypes": ["ALK-Related Neuroblastoma Susceptibility", "Neuroblastoma 3", "Neuroblastoma, susceptibility to, 3"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 3", "diseaseFromSourceId": "C2751681", "diseaseFromSourceMappedId": "MONDO_0013083", "variantHgvsId": "NC_000002.12:g.29193462G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021081", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42964862_C_T", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42964862C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002021484", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000124587", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "6_42978265_C_T", "cohortPhenotypes": ["ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "INFANTILE PHYTANIC ACID STORAGE DISEASE", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorders, Zellweger syndrome spectrum"], "diseaseFromSource": "Peroxisome biogenesis disorder", "diseaseFromSourceId": "C1832200", "diseaseFromSourceMappedId": "Orphanet_79189", "variantHgvsId": "NC_000006.12:g.42978265C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002022033", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132659463_T_A", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132659463T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178601279del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178601279del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002026349", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_178601277_TG_T", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178601279del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152387283G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152387283G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032194", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152387283_G_A", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES", "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "diseaseFromSourceId": "C2751807", "diseaseFromSourceMappedId": "MONDO_0020336", "variantHgvsId": "NC_000006.12:g.152387283G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002032970", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000184634", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "X_71141227_T_TAGCAGCAGCAGCAACAGCAACAGCAGCAGC", "cohortPhenotypes": ["FG syndrome 1", "Keller syndrome", "MED12-Related Disorders", "Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "Opitz-Kaveggia syndrome"], "diseaseFromSource": "FG syndrome 1", "diseaseFromSourceId": "C0220769", "diseaseFromSourceMappedId": "EFO_0009297", "variantHgvsId": "NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002033542", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000181192", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_12101135_A_C", "cohortPhenotypes": ["2-KETOADIPIC ACIDURIA", "2-aminoadipic 2-oxoadipic aciduria", "ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA", "Aminoadipic aciduria"], "diseaseFromSource": "2-aminoadipic 2-oxoadipic aciduria", "diseaseFromSourceId": "C1859817", "diseaseFromSourceMappedId": "MONDO_0008774", "variantHgvsId": "NC_000010.11:g.12101135A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036119", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133244386_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133244386G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy, familial restrictive, 3", "diseaseFromSourceId": "C2676271", "variantHgvsId": "NC_000001.11:g.201363312C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 2", "diseaseFromSourceId": "C1861864", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000001.11:g.201363312C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002036376", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000118194", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_201363312_C_A", "cohortPhenotypes": ["Cardiomyopathy, familial restrictive, 3", "Dilated cardiomyopathy 1D", "Familial hypertrophic cardiomyopathy 2", "Hypertrophic cardiomyopathy 2", "Left ventricular noncompaction 6", "TNNT2-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Dilated cardiomyopathy 1D", "diseaseFromSourceId": "C1832243", "diseaseFromSourceMappedId": "Orphanet_54260", "variantHgvsId": "NC_000001.11:g.201363312C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037311", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_55174749_G_T", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174749G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002038242", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000164751", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_76983931_A_G", "cohortPhenotypes": ["Peroxisome biogenesis disorder 5A (Zellweger)"], "diseaseFromSource": "Peroxisome biogenesis disorder 5A (Zellweger)", "diseaseFromSourceId": "C3553940", "diseaseFromSourceMappedId": "Orphanet_912", "variantHgvsId": "NC_000008.11:g.76983931A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002040305", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000185313", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_38722326_G_A", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38722326G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Amyotrophic lateral sclerosis type 4", "diseaseFromSourceId": "C1865409", "diseaseFromSourceMappedId": "MONDO_0004976", "variantHgvsId": "NC_000009.12:g.132329754G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002044210", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000107290", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132329754_G_A", "cohortPhenotypes": ["AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "Amyotrophic lateral sclerosis type 4", "Ataxia with Oculomotor Apraxia", "Ataxia-ocular apraxia-2", "Ataxia-oculomotor apraxia 2", "NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES", "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"], "diseaseFromSource": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2", "diseaseFromSourceId": "C1853761", "diseaseFromSourceMappedId": "Orphanet_94124", "variantHgvsId": "NC_000009.12:g.132329754G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Early-onset Parkinson disease 20", "diseaseFromSourceId": "C3809824", "variantHgvsId": "NC_000021.9:g.32650238T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002048325", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000159082", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_32650238_T_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 53", "Early-onset Parkinson disease 20", "Epileptic encephalopathy, early infantile, 53"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 53", "diseaseFromSourceId": "C4479313", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000021.9:g.32650238T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "MONDO_0011581", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "diseaseFromSourceId": "C1854063", "diseaseFromSourceMappedId": "Orphanet_65282", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002049029", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585421_A_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8", "Arrhythmogenic cardiomyopathy with woolly hair and keratoderma", "Arrhythmogenic right ventricular cardiomyopathy, type 8", "Arrhythmogenic right ventricular dysplasia 8", "Carvajal syndrome", "Dilated cardiomyopathy with woolly hair and keratoderma", "Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 8", "diseaseFromSourceId": "C1843896", "diseaseFromSourceMappedId": "MONDO_0011831", "variantHgvsId": "NC_000006.12:g.7585421A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "CDG Is", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C3550904", "diseaseFromSourceMappedId": "MONDO_0010472", "variantHgvsId": "NC_000023.11:g.111728246G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002058917", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000101901", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_111728246_G_A", "variantRsId": "rs751478782", "cohortPhenotypes": ["ALG13-CDG", "CDG Is", "Congenital disorder of glycosylation, type Is", "Developmental and epileptic encephalopathy, 36", "Epileptic encephalopathy, early infantile, 36"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 36", "diseaseFromSourceId": "C3550904", "diseaseFromSourceMappedId": "Orphanet_324422", "variantHgvsId": "NC_000023.11:g.111728246G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002062508", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000133710", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "5_148104939_C_T", "variantRsId": "rs375240260", "cohortPhenotypes": ["COMEL-NETHERTON SYNDROME", "ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE", "Netherton disease", "Netherton syndrome"], "diseaseFromSource": "Netherton syndrome", "diseaseFromSourceId": "C0265962", "diseaseFromSourceMappedId": "MONDO_0009735", "variantHgvsId": "NC_000005.10:g.148104939C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002066311", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000105647", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_18168762_G_A", "variantRsId": "rs201568661", "cohortPhenotypes": ["MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT", "MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1", "diseaseFromSourceId": "C4012727", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000019.10:g.18168762G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002068539", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154030711_A_G", "variantRsId": "rs782420258", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030711A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002070310", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_23422330_T_TAG", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23422332GA[4]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002077695", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000188158", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_17376015_A_G", "cohortPhenotypes": ["Cataract X-linked with Hutchinsonian teeth", "Cataract dental syndrome", "Mesiodens cataract syndrome", "Nance-Horan syndrome"], "diseaseFromSource": "Nance-Horan syndrome", "diseaseFromSourceId": "C0796085", "diseaseFromSourceMappedId": "MONDO_0010545", "variantHgvsId": "NC_000023.11:g.17376015A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1602561T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002083564", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_1602561_T_G", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1602561T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002088496", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000183230", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_66379136_T_G", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13", "Arrhythmogenic right ventricular dysplasia 13", "Arrhythmogenic right ventricular dysplasia, familial, 13"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 13", "diseaseFromSourceId": "C3810138", "diseaseFromSourceMappedId": "Orphanet_217656", "variantHgvsId": "NC_000010.11:g.66379136T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002094328", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000148677", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "10_90918983_A_AATATATATATATATATAT", "cohortPhenotypes": ["ANKRD1-related dilated cardiomyopathy"], "diseaseFromSource": "ANKRD1-related dilated cardiomyopathy", "diseaseFromSourceId": "CN119551", "variantHgvsId": "NC_000010.11:g.90918985TA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002098228", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135766", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_231421372_G_A", "cohortPhenotypes": ["Erythrocytosis, familial, 3"], "diseaseFromSource": "Erythrocytosis, familial, 3", "diseaseFromSourceId": "C1853286", "diseaseFromSourceMappedId": "MONDO_0007572", "variantHgvsId": "NC_000001.11:g.231421372G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "MONDO_0013177", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002102897", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135424", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_55688181_TCC_T", "cohortPhenotypes": ["Congenital muscular dystrophy due to integrin alpha-7 deficiency", "Congenital muscular dystrophy with integrin alpha-7 deficiency", "MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "Muscular dystrophy, congenital, due to ITGA7 deficiency"], "diseaseFromSource": "Congenital muscular dystrophy due to integrin alpha-7 deficiency", "diseaseFromSourceId": "C2750786", "diseaseFromSourceMappedId": "Orphanet_34520", "variantHgvsId": "NC_000012.12:g.55688185_55688186del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_26", "variantHgvsId": "NC_000001.11:g.45508289G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002103867", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132763", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_45508289_G_A", "cohortPhenotypes": ["Cobalamin C disease", "Cobalamin-C methylmalonic acidemia and homocystinuria", "Methylmalonic acidemia and homocystinuria cblC type", "Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive", "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase", "methylmalonic aciduria and homocystinuria type cblC"], "diseaseFromSource": "Cobalamin C disease", "diseaseFromSourceId": "C1848561", "diseaseFromSourceMappedId": "Orphanet_79282", "variantHgvsId": "NC_000001.11:g.45508289G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002106665", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000018236", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "12_40910120_G_C", "cohortPhenotypes": ["Compton-North congenital myopathy"], "diseaseFromSource": "Compton-North congenital myopathy", "diseaseFromSourceId": "C2675527", "diseaseFromSourceMappedId": "MONDO_0012929", "variantHgvsId": "NC_000012.12:g.40910120G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002107226", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000081014", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_51001053_T_C", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000015.10:g.51001053T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002111971", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000142627", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_16135152_C_A", "cohortPhenotypes": ["CATARACT 6, CONGENITAL TOTAL", "CATARACT 6, POSTERIOR POLAR", "CATARACT, AGE-RELATED CORTICAL, 2", "Cataract 6 multiple types", "Cataract, posterior polar, 1"], "diseaseFromSource": "Cataract 6 multiple types", "diseaseFromSourceId": "C1861825", "variantHgvsId": "NC_000001.11:g.16135152C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002113550", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000103313", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_3254642_C_G", "cohortPhenotypes": ["Benign paroxysmal peritonitis", "Familial Mediterranean fever", "POLYSEROSITIS, FAMILIAL PAROXYSMAL", "POLYSEROSITIS, RECURRENT", "Periodic disease", "Periodic peritonitis"], "diseaseFromSource": "Familial Mediterranean fever", "diseaseFromSourceId": "C0031069", "diseaseFromSourceMappedId": "MONDO_0018088", "variantHgvsId": "NC_000016.10:g.3254642C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "MONDO_0008708", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002121537", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000166813", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "15_89633008_T_TAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG", "cohortPhenotypes": ["Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly", "Acrocallosal syndrome", "Acrocallosal syndrome, Schinzel type", "HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM", "Schinzel syndrome 1"], "diseaseFromSource": "Acrocallosal syndrome", "diseaseFromSourceId": "C0796147", "diseaseFromSourceMappedId": "Orphanet_36", "variantHgvsId": "NC_000015.10:g.89633010GGGA[14]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65558594G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002128203", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_65558594_G_A", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65558594G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002135703", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000054523", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_10271558_T_C", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.10271558T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002146927", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000129250", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "17_5004838_G_C", "cohortPhenotypes": ["Ataxia, spastic, 2, autosomal recessive", "Spastic ataxia 2"], "diseaseFromSource": "Spastic ataxia 2", "diseaseFromSourceId": "C1969796", "diseaseFromSourceMappedId": "Orphanet_316240", "variantHgvsId": "NC_000017.11:g.5004838G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002150054", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000092929", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_75843455_TCTCTGCACCCCAGCA_T", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 3"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 3", "diseaseFromSourceId": "C1837174", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000017.11:g.75843461_75843475del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002154303", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_89970444_A_G", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970444A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156689", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000135454", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_57630206_G_A", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57630206G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002156770", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154030523_C_T", "cohortPhenotypes": ["Encephalopathy, neonatal severe", "Encephalopathy, neonatal severe, due to MECP2 mutations", "Severe neonatal-onset encephalopathy with microcephaly"], "diseaseFromSource": "Severe neonatal-onset encephalopathy with microcephaly", "diseaseFromSourceId": "C1968556", "diseaseFromSourceMappedId": "MONDO_0010397", "variantHgvsId": "NC_000023.11:g.154030523C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002163901", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143951", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_63174851_ATG_A", "cohortPhenotypes": ["Bardet-Biedl syndrome"], "diseaseFromSource": "Bardet-Biedl syndrome", "diseaseFromSourceId": "C0752166", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000002.12:g.63174852TG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "MONDO_0018958", "variantHgvsId": "NC_000002.12:g.151492377C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002165113", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000183091", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_151492377_C_T", "cohortPhenotypes": ["Nemaline myopathy 2", "Nemaline myopathy 2, autosomal recessive", "Nemaline myopathy caused by mutation in the nebulin gene"], "diseaseFromSource": "Nemaline myopathy 2", "diseaseFromSourceId": "C1850569", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000002.12:g.151492377C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002170920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_58692804_G_A", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58692804G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002172121", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000132549", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "8_99391670_T_C", "cohortPhenotypes": ["Cohen syndrome", "Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness", "Pepper syndrome"], "diseaseFromSource": "Cohen syndrome", "diseaseFromSourceId": "C0265223", "diseaseFromSourceMappedId": "MONDO_0008999", "variantHgvsId": "NC_000008.11:g.99391670T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002174084", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000101986", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_153725899_C_G", "cohortPhenotypes": ["ADDISON DISEASE AND CEREBRAL SCLEROSIS", "Adrenoleukodystrophy", "BRONZE SCHILDER DISEASE", "MELANODERMIC LEUKODYSTROPHY", "SIEMERLING-CREUTZFELDT DISEASE"], "diseaseFromSource": "Adrenoleukodystrophy", "diseaseFromSourceId": "C0162309", "diseaseFromSourceMappedId": "Orphanet_43", "variantHgvsId": "NC_000023.11:g.153725899C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "MONDO_0013389", "variantHgvsId": "NC_000020.11:g.8371462A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002178619", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000182621", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "20_8371462_A_G", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 12", "Early infantile epileptic encephalopathy 12"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 12", "diseaseFromSourceId": "C3150988", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.8371462A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002198643", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000169379", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "3_94036766_AA_CC", "cohortPhenotypes": ["Joubert syndrome 8"], "diseaseFromSource": "Joubert syndrome 8", "diseaseFromSourceId": "C2676771", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000003.12:g.94036766_94036767delinsCC"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200041", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "5_112827094_C_A", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827094C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000134330", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200692", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151694", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_9490537_AATTG_A", "cohortPhenotypes": ["Inflammatory skin and bowel disease, neonatal, 1"], "diseaseFromSource": "Inflammatory skin and bowel disease, neonatal, 1", "diseaseFromSourceId": "C3280501", "variantHgvsId": "NC_000002.12:g.9490540TGAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002200904", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000141485", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "17_6693178_A_AACACACACACAC", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta", "Developmental and epileptic encephalopathy, 25", "Epileptic encephalopathy, early infantile, 25", "Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 25", "diseaseFromSourceId": "C4014621", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000017.11:g.6693179AC[32]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002202986", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000117020", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_243573016_G_A", "cohortPhenotypes": ["MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SOMATIC", "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"], "diseaseFromSource": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2", "diseaseFromSourceId": "C4014738", "diseaseFromSourceMappedId": "Orphanet_83473", "variantHgvsId": "NC_000001.11:g.243573016G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002205056", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "2_188992883_T_G", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.188992883T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "MONDO_0015998", "variantHgvsId": "NC_000001.11:g.150554470G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002210914", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000143382", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "1_150554470_G_A", "cohortPhenotypes": ["ECTOPIA LENTIS WITH ECTOPIA OF PUPIL", "Ectopia lentis 2, isolated, autosomal recessive", "Ectopia lentis et pupillae", "Ectopia lentis, isolated autosomal recessive"], "diseaseFromSource": "Ectopia lentis 2, isolated, autosomal recessive", "diseaseFromSourceId": "C3541474", "diseaseFromSourceMappedId": "Orphanet_1885", "variantHgvsId": "NC_000001.11:g.150554470G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002219838", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000111262", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_4911867_G_A", "cohortPhenotypes": ["ATAXIA, EPISODIC, WITH MYOKYMIA", "Episodic ataxia type 1", "MYOKYMIA WITH PERIODIC ATAXIA", "PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY"], "diseaseFromSource": "Episodic ataxia type 1", "diseaseFromSourceId": "C1719788", "diseaseFromSourceMappedId": "MONDO_0008047", "variantHgvsId": "NC_000012.12:g.4911867G>A"} +{"alleleOrigins": ["maternal", "paternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001822951", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091536", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_18171738_C_T", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 3", "Deafness, autosomal recessive 3", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 3", "diseaseFromSourceId": "C1838263", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000017.11:g.18171738C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476345", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000183873", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "3_38585690_C_A", "variantRsId": "rs1060501130", "cohortPhenotypes": ["Brugada syndrome", "Sudden Unexplained Death Syndrome", "Sudden Unexplained Nocturnal Death Syndrome (SUNDS)", "Sudden unexpected nocturnal death syndrome", "Sudden unexplained nocturnal death syndrome"], "diseaseFromSource": "Brugada syndrome", "diseaseFromSourceId": "C1142166", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000003.12:g.38585690C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["6344088"], "studyId": "RCV000011137", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000160211", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_154532625_C_T", "variantRsId": "rs137852336", "cohortPhenotypes": ["Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "Class I glucose-6-phosphate dehydrogenase deficiency", "Favism, susceptibility to", "Glucose-6-phosphate dehydrogenase deficiency", "Hemolytic anemia due to G6PD deficiency"], "diseaseFromSource": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency", "diseaseFromSourceId": "C2720289", "diseaseFromSourceMappedId": "EFO_1000641", "variantHgvsId": "NC_000023.11:g.154532625C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000276459", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000038427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_83582037_T_C", "variantRsId": "rs10233", "cohortPhenotypes": ["Hyaloideoretinal degeneration of Wagner", "VCAN-Related Vitreoretinopathy", "WAGNER VITREORETINOPATHY", "Wagner disease", "Wagner disease (formerly)", "Wagner syndrome", "Wagner syndrome type 1", "Wagner vitreoretinal degeneration"], "diseaseFromSource": "Wagner syndrome", "diseaseFromSourceId": "C1840452", "diseaseFromSourceMappedId": "MONDO_0007740", "variantHgvsId": "NC_000005.10:g.83582037T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001913088", "releaseDate": "2022-05-04", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116699900_G_C", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116699900G>C"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000104112", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000128872", "variantFunctionalConsequenceId": "SO_0001580", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839108", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000140280", "variantFunctionalConsequenceId": "SO_0001889", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 13", "Early infantile epileptic encephalopathy 13", "SCN8A-Related Epilepsy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 13", "diseaseFromSourceId": "C3281191", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000015.10:g.51681311_51791472dup"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000055609", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001839258", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000178234", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Kleefstra syndrome 2"], "diseaseFromSource": "Kleefstra syndrome 2", "diseaseFromSourceId": "C4540395", "diseaseFromSourceMappedId": "MONDO_0012455", "variantHgvsId": "NC_000007.14:g.152052676_152295696del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001578", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000184216", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000170117", "releaseDate": "2015-04-24", "targetFromSourceId": "ENSG00000284286", "variantFunctionalConsequenceId": "SO_0001893", "cohortPhenotypes": ["Autism, dementia, ataxia, and loss of purposeful hand use", "MECP2-Related Disorders", "Rett syndrome", "Rett's disorder"], "diseaseFromSource": "Rett syndrome", "diseaseFromSourceId": "C0035372", "diseaseFromSourceMappedId": "MONDO_0010726", "variantHgvsId": "NC_000023.11:g.154015897_154030807del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000565815", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_132588712_C_T", "variantRsId": "rs1554098240", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132588712C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000573090", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2084230_G_T", "variantRsId": "rs760704956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2084230G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "Orphanet_98810", "variantHgvsId": "NC_000002.12:g.218341552C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000644974", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000127838", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_218341552_C_T", "variantRsId": "rs761712009", "cohortPhenotypes": ["Paroxysmal non-kinesigenic dyskinesia", "Paroxysmal nonkinesigenic dyskinesia"], "diseaseFromSource": "Paroxysmal nonkinesigenic dyskinesia", "diseaseFromSourceId": "C1869117", "diseaseFromSourceMappedId": "MONDO_0700088", "variantHgvsId": "NC_000002.12:g.218341552C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic", "pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000674492", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_90803668_CT_C", "variantRsId": "rs1555424311", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90803670del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000892535", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000134516", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_170042099_C_T", "variantRsId": "rs151251345", "cohortPhenotypes": ["DOCK2 deficiency", "Immunodeficiency 40"], "diseaseFromSource": "DOCK2 deficiency", "diseaseFromSourceId": "C4225328", "diseaseFromSourceMappedId": "Orphanet_179006", "variantHgvsId": "NC_000005.10:g.170042099C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001018332", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_11024411_G_A", "variantRsId": "rs529586298", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000019.10:g.11024411G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044598", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_108281079_T_TC", "variantRsId": "rs2082208208", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108281081dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001221204", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "17_58720800_G_GT", "variantRsId": "rs2048893092", "cohortPhenotypes": ["Fanconi anemia complementation group O"], "diseaseFromSource": "Fanconi anemia complementation group O", "diseaseFromSourceId": "C3150653", "variantHgvsId": "NC_000017.11:g.58720802dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-CDG", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-CDG", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "Orphanet_137", "variantHgvsId": "NC_000001.11:g.63651667A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377288", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000079739", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "1_63651667_A_G", "cohortPhenotypes": ["CDG It", "Congenital disorder of glycosylation type 1t", "GSD XIV", "Glycogen storage disease XIV", "PGM1 DEFICIENCY", "PGM1-CDG", "PHOSPHOGLUCOMUTASE 1 DEFICIENCY"], "diseaseFromSource": "PGM1-CDG", "diseaseFromSourceId": "C2752015", "diseaseFromSourceMappedId": "MONDO_0013968", "variantHgvsId": "NC_000001.11:g.63651667A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001395954", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000146648", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_55174034_G_C", "cohortPhenotypes": ["EGFR-related lung cancer"], "diseaseFromSource": "EGFR-related lung cancer", "diseaseFromSourceId": "CN130014", "variantHgvsId": "NC_000007.14:g.55174034G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001401655", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "19_11034207_G_T", "cohortPhenotypes": ["Rhabdoid tumor predisposition syndrome 2"], "diseaseFromSource": "Rhabdoid tumor predisposition syndrome 2", "diseaseFromSourceId": "C2750074", "diseaseFromSourceMappedId": "MONDO_0016473", "variantHgvsId": "NC_000019.10:g.11034207G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000076685", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_103089684_C_T", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001408293", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000148842", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_103089684_C_T", "cohortPhenotypes": ["Hereditary spastic paraplegia 45", "SPASTIC PARAPLEGIA 45", "Spastic paraplegia 45, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 45", "diseaseFromSourceId": "C3888209", "diseaseFromSourceMappedId": "Orphanet_306511", "variantHgvsId": "NC_000010.11:g.103089684C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001413739", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000035403", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_74114397_G_A", "cohortPhenotypes": ["Dilated cardiomyopathy 1W"], "diseaseFromSource": "Dilated cardiomyopathy 1W", "diseaseFromSourceId": "C1969639", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.74114397G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001419888", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000118046", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_1223033_A_C", "cohortPhenotypes": ["Lentiginosis, perioral", "Periorificial lentiginosis syndrome", "Peutz-Jeghers polyposis", "Peutz-Jeghers syndrome", "Polyposis, hamartomatous intestinal", "Polyps-and-spots syndrome"], "diseaseFromSource": "Peutz-Jeghers syndrome", "diseaseFromSourceId": "C0031269", "diseaseFromSourceMappedId": "MONDO_0008280", "variantHgvsId": "NC_000019.10:g.1223033A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001424172", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000197283", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_33435296_C_T", "variantRsId": "rs542048435", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5", "Intellectual disability, autosomal dominant 5"], "diseaseFromSource": "Intellectual disability, autosomal dominant 5", "diseaseFromSourceId": "C2675473", "variantHgvsId": "NC_000006.12:g.33435296C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "CN117977", "diseaseFromSourceMappedId": "MONDO_0100228", "variantHgvsId": "NC_000006.12:g.129288036A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427085", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000196569", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_129288036_A_G", "cohortPhenotypes": ["LAMA2-related muscular dystrophy", "Laminin alpha 2-related dystrophy"], "diseaseFromSource": "LAMA2-related muscular dystrophy", "diseaseFromSourceId": "CN117977", "diseaseFromSourceMappedId": "EFO_0009138", "variantHgvsId": "NC_000006.12:g.129288036A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68811766C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001427262", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "16_68811766_C_T", "variantRsId": "rs1057522178", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68811766C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001429981", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000105227", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_40397704_T_C", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000019.10:g.40397704T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Hypokalemic periodic paralysis, type 1", "diseaseFromSourceId": "C3714580", "variantHgvsId": "NC_000001.11:g.201062066G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Malignant hyperthermia, susceptibility to, 5", "diseaseFromSourceId": "C1866077", "diseaseFromSourceMappedId": "MONDO_0011163", "variantHgvsId": "NC_000001.11:g.201062066G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430879", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000081248", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_201062066_G_A", "variantRsId": "rs374912997", "cohortPhenotypes": ["HypoPP", "Hypokalemic periodic paralysis, type 1", "Malignant hyperpyrexia susceptibility type 5", "Malignant hyperthermia susceptibility type 5", "Malignant hyperthermia, susceptibility to, 5"], "diseaseFromSource": "Malignant hyperthermia, susceptibility to, 5", "diseaseFromSourceId": "C1866077", "diseaseFromSourceMappedId": "EFO_0009071", "variantHgvsId": "NC_000001.11:g.201062066G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001454495", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCC", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464352", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_110781819_G_A", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110781819G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001466478", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187566", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_18122583_G_A", "cohortPhenotypes": ["EPILEPSY, PROGRESSIVE MYOCLONIC, 2A", "Epilepsy progressive myoclonic 2", "Lafora body disorder", "Lafora disease", "Myoclonic epilepsy of Lafora"], "diseaseFromSource": "Lafora disease", "diseaseFromSourceId": "C0751783", "diseaseFromSourceMappedId": "MONDO_0009697", "variantHgvsId": "NC_000006.12:g.18122583G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "MONDO_0010233", "variantHgvsId": "NC_000023.11:g.154359501C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "Orphanet_98892", "variantHgvsId": "NC_000023.11:g.154359501C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Melnick-Needles syndrome", "diseaseFromSourceId": "C0025237", "diseaseFromSourceMappedId": "Orphanet_2484", "variantHgvsId": "NC_000023.11:g.154359501C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154359501C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473025", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154359501_C_T", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154359501C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479417", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000165282", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_35094253_T_C", "cohortPhenotypes": ["GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6", "Hyperphosphatasia with intellectual disability syndrome 2"], "diseaseFromSource": "Hyperphosphatasia with intellectual disability syndrome 2", "diseaseFromSourceId": "C3553637", "variantHgvsId": "NC_000009.12:g.35094253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001479696", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000168542", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_189010227_G_A", "variantRsId": "rs1688690801", "cohortPhenotypes": ["Ehlers Danlos syndrome, Sack-Barabas type", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers-Danlos Syndrome Type IV", "Ehlers-Danlos syndrome vascular type", "Ehlers-Danlos syndrome, type 4"], "diseaseFromSource": "Ehlers-Danlos syndrome, type 4", "diseaseFromSourceId": "C0268338", "diseaseFromSourceMappedId": "MONDO_0017314", "variantHgvsId": "NC_000002.12:g.189010227G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001489150", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000038002", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "4_177438735_G_A", "cohortPhenotypes": ["AGA deficiency", "Aspartylglucos-amidase (AGA) deficiency", "Aspartylglucos-aminuria", "Aspartylglucosaminuria", "Aspartylglycosaminuria", "GLYCOASPARAGINASE", "Glycosylasparaginase deficiency"], "diseaseFromSource": "Aspartylglucosaminuria", "diseaseFromSourceId": "C0268225", "diseaseFromSourceMappedId": "MONDO_0008830", "variantHgvsId": "NC_000004.12:g.177438735G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001493569", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000167895", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_78140898_G_A", "cohortPhenotypes": ["Epidermodysplasia verruciformis"], "diseaseFromSource": "Epidermodysplasia verruciformis", "diseaseFromSourceId": "C0014522", "diseaseFromSourceMappedId": "MONDO_0009176", "variantHgvsId": "NC_000017.11:g.78140898G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001495057", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_42464792_A_G", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42464792A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C4225334", "diseaseFromSourceMappedId": "MONDO_0014629", "variantHgvsId": "NC_000001.11:g.160291371T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001499491", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000122218", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_160291371_T_C", "cohortPhenotypes": ["Autoimmune interstitial lung disease-arthritis syndrome", "Autoimmune interstitial lung, joint, and kidney disease"], "diseaseFromSource": "Autoimmune interstitial lung disease-arthritis syndrome", "diseaseFromSourceId": "C4225334", "diseaseFromSourceMappedId": "EFO_0004244", "variantHgvsId": "NC_000001.11:g.160291371T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001829854", "releaseDate": "2022-05-16", "targetFromSourceId": "ENSG00000081052", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "2_227094124_C_T", "variantRsId": "rs1553676230", "cohortPhenotypes": ["Alport syndrome", "Congenital hereditary hematuria", "Hemorrhagic familial nephritis", "Hemorrhagic hereditary nephritis"], "diseaseFromSource": "Alport syndrome", "diseaseFromSourceId": "C1567741", "diseaseFromSourceMappedId": "MONDO_0018965", "variantHgvsId": "NC_000002.12:g.227094124C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19405096"], "studyId": "RCV000003131", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000166311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_6393961_A_C", "variantRsId": "rs267607074", "cohortPhenotypes": ["ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE", "ASMD, NEUROVISCERAL TYPE", "Niemann-Pick disease, type A", "SPHINGOMYELIN LIPIDOSIS", "SPHINGOMYELINASE DEFICIENCY"], "diseaseFromSource": "Niemann-Pick disease, type A", "diseaseFromSourceId": "C0268242", "diseaseFromSourceMappedId": "MONDO_0009756", "variantHgvsId": "NC_000011.10:g.6393961A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["11297544", "1684223", "23847139", "8202715"], "studyId": "RCV000014051", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42721781_A_G", "variantRsId": "rs121918563", "cohortPhenotypes": ["Retinitis pigmentosa 7, digenic"], "diseaseFromSource": "Retinitis pigmentosa 7, digenic", "diseaseFromSourceId": "C2675552", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000006.12:g.42721781A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment and thin corpus callosum", "Nakamura Osame syndrome", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "MONDO_0011445", "variantHgvsId": "NC_000015.10:g.44628785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000034185", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000104133", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "15_44628785_G_A", "variantRsId": "rs199588440", "cohortPhenotypes": ["Autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum", "Hereditary spastic paraplegia 11", "Hereditary spastic paraplegia mental impairment and thin corpus callosum", "Nakamura Osame syndrome", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM", "SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM", "Spastic paraplegia 11", "Spastic paraplegia 11, autosomal recessive", "Spastic paraplegia, mental retardation and thin corpus callosum"], "diseaseFromSource": "Hereditary spastic paraplegia 11", "diseaseFromSourceId": "C1858479", "diseaseFromSourceMappedId": "Orphanet_685", "variantHgvsId": "NC_000015.10:g.44628785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000131784", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_132591266_A_G", "variantRsId": "rs587782563", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591266A>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV000132814", "releaseDate": "2014-08-17", "targetFromSourceId": "ENSG00000169057", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "X_154029506_A_C", "variantRsId": "rs187614438", "cohortPhenotypes": ["Austism susceptibility, X-linked", "Autism susceptibility, X-linked 3", "Autism, susceptibility to, X-linked 3"], "diseaseFromSource": "Autism, susceptibility to, X-linked 3", "diseaseFromSourceId": "C1845336", "diseaseFromSourceMappedId": "EFO_0003758", "variantHgvsId": "NC_000023.11:g.154029506A>C"} +{"alleleOrigins": ["maternal"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000162201", "releaseDate": "2015-03-16", "targetFromSourceId": "ENSG00000102081", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "X_147912049_C_CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG", "variantRsId": "rs193922936", "cohortPhenotypes": ["FRAGILE X MENTAL RETARDATION SYNDROME", "Fra(X) syndrome", "Fragile X syndrome", "Fragile X syndrome, type A", "MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28", "Marker X syndrome", "Martin-Bell syndrome", "X-linked mental retardation and macroorchidism"], "diseaseFromSource": "Fragile X syndrome", "diseaseFromSourceId": "C0016667", "diseaseFromSourceMappedId": "MONDO_0010383", "variantHgvsId": "NC_000023.11:g.147912051CGG[201]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000204855", "releaseDate": "2016-01-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[10]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000240662", "releaseDate": "2016-09-11", "targetFromSourceId": "ENSG00000132740", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_68933854_C_T", "variantRsId": "rs780594709", "cohortPhenotypes": ["CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S", "Charcot-Marie-Tooth disease axonal type 2S"], "diseaseFromSource": "Charcot-Marie-Tooth disease axonal type 2S", "diseaseFromSourceId": "C4015349", "variantHgvsId": "NC_000011.10:g.68933854C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000258143", "releaseDate": "2016-11-05", "targetFromSourceId": "ENSG00000171316", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_60862317_A_G", "variantRsId": "rs780161032", "cohortPhenotypes": ["CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES", "CHARGE association", "CHARGE syndrome", "Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation", "Hall-Hittner syndrome", "Hittner Hirsch Kreh syndrome"], "diseaseFromSource": "CHARGE association", "diseaseFromSourceId": "C0265354", "diseaseFromSourceMappedId": "MONDO_0008965", "variantHgvsId": "NC_000008.11:g.60862317A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000262741", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297988", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000142156", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "21_45990405_G_A", "variantRsId": "rs200835287", "cohortPhenotypes": ["Collagen 6-related myopathy", "Collagen VI-related myopathy"], "diseaseFromSource": "Collagen 6-related myopathy", "diseaseFromSourceId": "CN117976", "diseaseFromSourceMappedId": "MONDO_0100225", "variantHgvsId": "NC_000021.9:g.45990405G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000312067", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000104044", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_28014907_G_A", "variantRsId": "rs1800401", "cohortPhenotypes": ["ALBINISM II", "Albinism 2", "Albinism, oculocutaneous, type II", "Albinoidism", "Tyrosinase-positive oculocutaneous albinism"], "diseaseFromSource": "Tyrosinase-positive oculocutaneous albinism", "diseaseFromSourceId": "C0268495", "diseaseFromSourceMappedId": "MONDO_0008746", "variantHgvsId": "NC_000015.10:g.28014907G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000319651", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_178713381_T_TACAAAACAAAACAAA", "variantRsId": "rs71393436", "cohortPhenotypes": ["Limb-Girdle Muscular Dystrophy, Recessive"], "diseaseFromSource": "Limb-Girdle Muscular Dystrophy, Recessive", "diseaseFromSourceId": "CN239352", "diseaseFromSourceMappedId": "MONDO_0015152", "variantHgvsId": "NC_000002.12:g.178713383CAAAA[9]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000331537", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000196628", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "18_55585355_A_G", "variantRsId": "rs148658897", "cohortPhenotypes": ["ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION", "MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION", "Mental retardation, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea", "Pitt-Hopkins syndrome"], "diseaseFromSource": "Pitt-Hopkins syndrome", "diseaseFromSourceId": "C1970431", "diseaseFromSourceMappedId": "MONDO_0012589", "variantHgvsId": "NC_000018.10:g.55585355A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "MONDO_0012110", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339812", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000017427", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "12_102399107_A_ATG", "variantRsId": "rs3032446", "cohortPhenotypes": ["Growth delay due to insulin-like growth factor type 1 deficiency", "Growth retardation with sensorineural deafness and mental retardation", "IGF1 deficiency", "Insulin-like growth factor I deficiency"], "diseaseFromSource": "Growth delay due to insulin-like growth factor type 1 deficiency", "diseaseFromSourceId": "C1837475", "diseaseFromSourceMappedId": "Orphanet_73272", "variantHgvsId": "NC_000012.12:g.102399109GT[20]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000394523", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165029", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_104837109_G_A", "variantRsId": "rs2297399", "cohortPhenotypes": ["Hypoalphalipoproteinemia, primary, 1"], "diseaseFromSource": "Hypoalphalipoproteinemia, primary, 1", "diseaseFromSourceId": "C5231558", "diseaseFromSourceMappedId": "MONDO_0100189", "variantHgvsId": "NC_000009.12:g.104837109G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000454126", "releaseDate": "2017-04-03", "targetFromSourceId": "ENSG00000107736", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_71617296_C_T", "variantRsId": "rs778251205", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 12", "Deafness, autosomal recessive 12"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 12", "diseaseFromSourceId": "C1832394", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000010.11:g.71617296C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000458724", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000107779", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_86912268_C_T", "variantRsId": "rs587782231", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000010.11:g.86912268C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000468059", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000134371", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_193203811_G_A", "variantRsId": "rs149875598", "cohortPhenotypes": ["CDC73-Related Parathyroid Carcinoma", "Parathyroid cancer", "Parathyroid carcinoma"], "diseaseFromSource": "Parathyroid carcinoma", "diseaseFromSourceId": "C0687150", "diseaseFromSourceMappedId": "EFO_1001087", "variantHgvsId": "NC_000001.11:g.193203811G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475235", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000104320", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_89970393_C_A", "variantRsId": "rs1060503475", "cohortPhenotypes": ["Ataxia telangiectasia variant V1", "Berlin Breakage syndrome", "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY", "Immunodeficiency, microcephaly with normal intelligence", "Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "Microcephaly, normal intelligence and immunodeficiency", "Nijmegen breakage syndrome", "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "SEEMANOVA SYNDROME II", "Seemanova syndrome 2"], "diseaseFromSource": "Microcephaly, normal intelligence and immunodeficiency", "diseaseFromSourceId": "C0398791", "diseaseFromSourceMappedId": "MONDO_0009623", "variantHgvsId": "NC_000008.11:g.89970393C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000476699", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000078328", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_7518261_C_T", "variantRsId": "rs151214012", "cohortPhenotypes": ["EIG", "Generalised epilepsy", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.7518261C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Hypertrophic cardiomyopathy 11", "diseaseFromSourceId": "C2677506", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000015.10:g.34792524A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Hypertrophic cardiomyopathy 11", "diseaseFromSourceId": "C2677506", "diseaseFromSourceMappedId": "MONDO_0012799", "variantHgvsId": "NC_000015.10:g.34792524A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Dilated cardiomyopathy 1R", "diseaseFromSourceId": "C3150681", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000015.10:g.34792524A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000477476", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000159251", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_34792524_A_G", "variantRsId": "rs730880409", "cohortPhenotypes": ["ACTC1-Related Familial Hypertrophic Cardiomyopathy", "Atrial septal defect 5", "Dilated cardiomyopathy 1R", "Familial hypertrophic cardiomyopathy 11", "Hypertrophic cardiomyopathy 11"], "diseaseFromSource": "Atrial septal defect 5", "diseaseFromSourceId": "C2748552", "diseaseFromSourceMappedId": "EFO_1000825", "variantHgvsId": "NC_000015.10:g.34792524A>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000504821", "releaseDate": "2017-09-09", "targetFromSourceId": "ENSG00000188452", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_181604002_G_T", "variantRsId": "rs569826109", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000002.12:g.181604002G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000525507", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000054654", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_63967778_C_T", "variantRsId": "rs374073818", "cohortPhenotypes": ["EMERY-DREIFUSS MUSCULAR DYSTROPHY 5", "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"], "diseaseFromSource": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "diseaseFromSourceId": "C2751805", "diseaseFromSourceMappedId": "MONDO_0016830", "variantHgvsId": "NC_000014.9:g.63967778C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "Orphanet_572", "variantHgvsId": "NC_000006.12:g.32847125C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000168394", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000530510", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000240065", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "6_32847125_C_T", "variantRsId": "rs41551515", "cohortPhenotypes": ["BARE LYMPHOCYTE SYNDROME, TYPE I", "BLS, TYPE I", "Bare lymphocyte syndrome type 1", "HLA CLASS I DEFICIENCY", "MHC class I deficiency"], "diseaseFromSource": "MHC class I deficiency", "diseaseFromSourceId": "C1858266", "diseaseFromSourceMappedId": "MONDO_0011476", "variantHgvsId": "NC_000006.12:g.32847125C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000540285", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_23425357_C_A", "variantRsId": "rs397516142", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23425357C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000545691", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000070748", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_49625509_G_A", "variantRsId": "rs114090981", "cohortPhenotypes": ["Congenital myasthenic syndrome 6", "Congenital myasthenic syndrome with episodic apnea", "FIMG2 (formerly)", "Familial infantile myasthenia", "MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC", "Myasthenic syndrome congenital associated with episodic apnea", "Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea"], "diseaseFromSource": "Familial infantile myasthenia", "diseaseFromSourceId": "C0393929", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000010.11:g.49625509G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000555260", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000142208", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "14_104780089_C_T", "variantRsId": "rs560243859", "cohortPhenotypes": ["Cowden syndrome 6"], "diseaseFromSource": "Cowden syndrome 6", "diseaseFromSourceId": "C3554519", "diseaseFromSourceMappedId": "MONDO_0016063", "variantHgvsId": "NC_000014.9:g.104780089C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000567185", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000127616", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11058800_A_G", "variantRsId": "rs587778684", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000019.10:g.11058800A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000620000", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000101605", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_3215133_G_T", "variantRsId": "rs76382984", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000018.10:g.3215133G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000640904", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_78015811_A_T", "variantRsId": "rs781950120", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78015811A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000642141", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000171723", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_66681128_A_G", "variantRsId": "rs144247888", "cohortPhenotypes": ["Molybdenum cofactor deficiency C", "Molybdenum cofactor deficiency, complementation group C", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"], "diseaseFromSource": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "diseaseFromSourceId": "C1854990", "diseaseFromSourceMappedId": "Orphanet_833", "variantHgvsId": "NC_000014.9:g.66681128A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000642141", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000171723", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_66681128_A_G", "variantRsId": "rs144247888", "cohortPhenotypes": ["Molybdenum cofactor deficiency C", "Molybdenum cofactor deficiency, complementation group C", "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"], "diseaseFromSource": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C", "diseaseFromSourceId": "C1854990", "diseaseFromSourceMappedId": "MONDO_0014212", "variantHgvsId": "NC_000014.9:g.66681128A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000644532", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_55039937_G_A", "variantRsId": "rs371030381", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039937G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000655236", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000148400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136496841_C_T", "variantRsId": "rs587778573", "cohortPhenotypes": ["Adams-Oliver syndrome 5"], "diseaseFromSource": "Adams-Oliver syndrome 5", "diseaseFromSourceId": "C4014970", "diseaseFromSourceMappedId": "MONDO_0007034", "variantHgvsId": "NC_000009.12:g.136496841C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687401", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000065534", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_123640393_G_C", "variantRsId": "rs1399378417", "cohortPhenotypes": ["AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM", "Aortic aneurysm, familial thoracic 7"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 7", "diseaseFromSourceId": "C3151077", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000003.12:g.123640393G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000689036", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998GAG[16]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "MONDO_0007648", "variantHgvsId": "NC_000016.10:g.68823467C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000701262", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000039068", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_68823467_C_A", "variantRsId": "rs1490366214", "cohortPhenotypes": ["DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME", "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR", "Hereditary diffuse gastric adenocarcinoma", "Hereditary diffuse gastric cancer"], "diseaseFromSource": "Hereditary diffuse gastric adenocarcinoma", "diseaseFromSourceId": "C1708349", "diseaseFromSourceMappedId": "Orphanet_26106", "variantHgvsId": "NC_000016.10:g.68823467C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000717259", "releaseDate": "2018-11-08", "targetFromSourceId": "ENSG00000198198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_43424857_A_G", "variantRsId": "rs749314293", "cohortPhenotypes": ["Seizure", "Seizures"], "diseaseFromSource": "Seizure", "diseaseFromSourceId": "C0036572", "diseaseFromSourceMappedId": "HP_0001250", "variantHgvsId": "NC_000001.11:g.43424857A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["benign", "likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000790882", "releaseDate": "2019-08-04", "targetFromSourceId": "ENSG00000112761", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_112061190_G_A", "variantRsId": "rs147337485", "cohortPhenotypes": ["Autosomal recessive spondyloepiphyseal dysplasia tarda", "Progressive Pseudorheumatoid Arthropathy of Childhood", "Progressive pseudorheumatoid dysplasia", "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY", "Spondyloepiphyseal dysplasia tarda progressive arthropathy"], "diseaseFromSource": "Progressive pseudorheumatoid dysplasia", "diseaseFromSourceId": "C0432215", "diseaseFromSourceMappedId": "MONDO_0008827", "variantHgvsId": "NC_000006.12:g.112061190G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000792070", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70598760_C_T", "variantRsId": "rs145234214", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70598760C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000792965", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000115085", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_97734565_C_T", "variantRsId": "rs903840321", "cohortPhenotypes": ["ZAP70-Related Severe Combined Immunodeficiency"], "diseaseFromSource": "ZAP70-Related Severe Combined Immunodeficiency", "diseaseFromSourceId": "C2931299", "diseaseFromSourceMappedId": "MONDO_0010023", "variantHgvsId": "NC_000002.12:g.97734565C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000800851", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000188157", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_1043265_G_A", "variantRsId": "rs148949051", "cohortPhenotypes": ["Congenital myasthenic syndrome 8", "MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY", "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"], "diseaseFromSource": "Congenital myasthenic syndrome 8", "diseaseFromSourceId": "C3808739", "variantHgvsId": "NC_000001.11:g.1043265G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000806813", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000197299", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_90749723_A_G", "variantRsId": "rs749633106", "cohortPhenotypes": ["Bloom syndrome", "Bloom-Torre-Machacek syndrome", "Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability", "MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"], "diseaseFromSource": "Bloom syndrome", "diseaseFromSourceId": "C0005859", "diseaseFromSourceMappedId": "MONDO_0008876", "variantHgvsId": "NC_000015.10:g.90749723A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000809549", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000100150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_31879595_G_C", "variantRsId": "rs1602677998", "cohortPhenotypes": ["Familial focal epilepsy with variable foci"], "diseaseFromSource": "Familial focal epilepsy with variable foci", "diseaseFromSourceId": "C1858477", "diseaseFromSourceMappedId": "MONDO_0020310", "variantHgvsId": "NC_000022.11:g.31879595G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "MONDO_0013921", "variantHgvsId": "NC_000019.10:g.4816746C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000817413", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000127666", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_4816746_C_G", "variantRsId": "rs1284363590", "cohortPhenotypes": ["ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6", "Herpes simplex encephalitis, susceptibility to, 4"], "diseaseFromSource": "Herpes simplex encephalitis, susceptibility to, 4", "diseaseFromSourceId": "C3553869", "diseaseFromSourceMappedId": "Orphanet_1930", "variantHgvsId": "NC_000019.10:g.4816746C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000818650", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000245848", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_33301525_C_A", "variantRsId": "rs1600021258", "cohortPhenotypes": ["AML adult", "Acute granulocytic leukemia", "Acute myelogenous leukemia", "Acute myeloid leukemia", "Acute myeloid leukemia, adult", "Acute non-lymphocytic leukemia", "Leukemia, acute myelogenous, somatic", "Leukemia, acute myeloid, somatic"], "diseaseFromSource": "Acute myeloid leukemia", "diseaseFromSourceId": "C0023467", "diseaseFromSourceMappedId": "EFO_0000222", "variantHgvsId": "NC_000019.10:g.33301525C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000820449", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000169174", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "1_55039879_A_ACTGCTGCTGCTG", "variantRsId": "rs35574083", "cohortPhenotypes": ["Familial Hypercholesterolemia, Autosomal Dominant, 3", "Familial hypercholesterolemia 3", "Hypercholesterolemia, autosomal dominant, 3"], "diseaseFromSource": "Hypercholesterolemia, autosomal dominant, 3", "diseaseFromSourceId": "C1863551", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000001.11:g.55039882GCT[11]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000107719", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000822426", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000180644", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_70600577_G_A", "variantRsId": "rs1589233312", "cohortPhenotypes": ["Familial hemophagocytic lymphohistiocytosis 2"], "diseaseFromSource": "Familial hemophagocytic lymphohistiocytosis 2", "diseaseFromSourceId": "C1863727", "diseaseFromSourceMappedId": "Orphanet_540", "variantHgvsId": "NC_000010.11:g.70600577G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "MONDO_0012256", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000861746", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000100523", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_53152762_T_TGCCGCCGCCGCC", "variantRsId": "rs55671452", "cohortPhenotypes": ["Hereditary spastic paraplegia 28", "Spastic paraplegia 28, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 28", "diseaseFromSourceId": "C1836295", "diseaseFromSourceMappedId": "Orphanet_101008", "variantHgvsId": "NC_000014.9:g.53152765_53152767CGC[8]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178725603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178725603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000869437", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178725603_G_A", "variantRsId": "rs374731328", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178725603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000876785", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000115267", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_162281445_A_G", "variantRsId": "rs138740030", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 7", "Singleton-Merten syndrome 1", "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"], "diseaseFromSource": "Singleton-Merten syndrome 1", "diseaseFromSourceId": "C4225427", "diseaseFromSourceMappedId": "MONDO_0008429", "variantHgvsId": "NC_000002.12:g.162281445A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000876785", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000115267", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_162281445_A_G", "variantRsId": "rs138740030", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 7", "Singleton-Merten syndrome 1", "Syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "Widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"], "diseaseFromSource": "Aicardi-Goutieres syndrome 7", "diseaseFromSourceId": "C3888244", "diseaseFromSourceMappedId": "Orphanet_51", "variantHgvsId": "NC_000002.12:g.162281445A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240767003G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240767003G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, 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"diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "MONDO_0013656", "variantHgvsId": "NC_000002.12:g.240767003G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000877114", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240767003_G_A", "variantRsId": "rs754916421", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL 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"genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000880956", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000092621", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_119723381_C_G", "variantRsId": "rs182600362", "cohortPhenotypes": ["PHGDH deficiency", "Phosphoglycerate dehydrogenase deficiency"], "diseaseFromSource": "PHGDH deficiency", "diseaseFromSourceId": "C1866174", "diseaseFromSourceMappedId": "Orphanet_79351", "variantHgvsId": "NC_000001.11:g.119723381C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "Orphanet_401948", "variantHgvsId": "NC_000016.10:g.87926844G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000890830", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000174990", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_87926844_G_T", "variantRsId": "rs377135599", "cohortPhenotypes": ["Carbonic anhydrase VA deficiency, hyperammonemia due to", "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"], "diseaseFromSource": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency", "diseaseFromSourceId": "C3810404", "diseaseFromSourceMappedId": "MONDO_0014332", "variantHgvsId": "NC_000016.10:g.87926844G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Menkes kinky-hair syndrome", "diseaseFromSourceId": "C0022716", "diseaseFromSourceMappedId": "MONDO_0010651", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "Cutis laxa, X-linked", "diseaseFromSourceId": "C0268353", "diseaseFromSourceMappedId": "MONDO_0010572", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000102144", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000918971", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000165240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_78011237_A_G", "variantRsId": "rs781900997", "cohortPhenotypes": ["Copper transport disease", "Cutis laxa, X-linked", "EDS IX", "EDS IX (formerly)", "Ehlers-Danlos syndrome, occipital horn type (formerly)", "Kinky hair disease", "Menkea syndrome", "Menkes Disease", "Menkes kinky-hair syndrome", "Occipital horn syndrome", "SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE", "Steely hair disease", "X-linked distal spinal muscular atrophy type 3"], "diseaseFromSource": "X-linked distal spinal muscular atrophy type 3", "diseaseFromSourceId": "C1845359", "diseaseFromSourceMappedId": "MONDO_0010338", "variantHgvsId": "NC_000023.11:g.78011237A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000921425", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_87925528_G_A", "variantRsId": "rs972166984", "cohortPhenotypes": ["PTEN Hamartomatous Tumour Syndrome", "PTEN hamartoma tumor syndrome"], "diseaseFromSource": "PTEN hamartoma tumor syndrome", "diseaseFromSourceId": "C1959582", "diseaseFromSourceMappedId": "MONDO_0017623", "variantHgvsId": "NC_000010.11:g.87925528G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000932997", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000157540", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "21_37512066_TCACCACCACCAC_T", "variantRsId": "rs760576043", "cohortPhenotypes": ["DYRK1A-related intellectual disability syndrome", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7"], "diseaseFromSource": "DYRK1A-related intellectual disability syndrome", "diseaseFromSourceId": "C3279839", "diseaseFromSourceMappedId": "MONDO_0013578", "variantHgvsId": "NC_000021.9:g.37512069_37512071CCA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Idiopathic generalized epilepsy", "diseaseFromSourceId": "C0270850", "diseaseFromSourceMappedId": "EFO_0005917", "variantHgvsId": "NC_000016.10:g.1206297C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000964608", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000196557", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_1206297_C_A", "variantRsId": "rs367549572", "cohortPhenotypes": ["ALDOSTERONISM, PRIMARY, AND HYPERTENSION", "EIG", "FH IV", "Generalised epilepsy", "Hyperaldosteronism, familial, type IV", "Idiopathic generalized epilepsy"], "diseaseFromSource": "Hyperaldosteronism, familial, type IV", "diseaseFromSourceId": "C4310756", "diseaseFromSourceMappedId": "MONDO_0016525", "variantHgvsId": "NC_000016.10:g.1206297C>A"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001002824", "releaseDate": "2020-02-16", "targetFromSourceId": "ENSG00000198691", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_94021404_C_G", "variantRsId": "rs61752439", "cohortPhenotypes": ["Fundus flavimaculatus", "Stargardt disease", "Stargardt's disease"], "diseaseFromSource": "Stargardt disease", "diseaseFromSourceId": "C0271093", "diseaseFromSourceMappedId": "MONDO_0019353", "variantHgvsId": "NC_000001.11:g.94021404C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001010349", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000073578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_223538_C_T", "variantRsId": "rs1579379803", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.223538C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001027575", "releaseDate": "2020-03-26", "targetFromSourceId": "ENSG00000027697", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_137204354_TA_T", "variantRsId": "rs749956849", "cohortPhenotypes": ["Inherited Immunodeficiency Diseases"], "diseaseFromSource": "Inherited Immunodeficiency Diseases", "diseaseFromSourceId": "C5197805", "variantHgvsId": "NC_000006.12:g.137204355del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036456", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133258416_T_C", "variantRsId": "rs762263620", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133258416T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001036970", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000183454", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_9938137_T_C", "variantRsId": "rs376979811", "cohortPhenotypes": ["APHASIA, ACQUIRED, WITH EPILEPSY", "Acquired aphasia with convulsive disorder", "Acquired epileptiform aphasia", "EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT", "Epilepsy with neurodevelopmental defects", "GRIN2A-Related Disorders", "Landau-Kleffner syndrome", "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant"], "diseaseFromSource": "Landau-Kleffner syndrome", "diseaseFromSourceId": "C3806402", "diseaseFromSourceMappedId": "EFO_1001010", "variantHgvsId": "NC_000016.10:g.9938137T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001038401", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000143632", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_229432792_A_AT", "variantRsId": "rs1571893878", "cohortPhenotypes": ["Actin accumulation myopathy", "Nemaline myopathy 3", "Nemaline myopathy caused by mutation in the alpha-actin gene"], "diseaseFromSource": "Actin accumulation myopathy", "diseaseFromSourceId": "C3711389", "diseaseFromSourceMappedId": "Orphanet_607", "variantHgvsId": "NC_000001.11:g.229432793dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001039768", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000177084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_132625692_C_G", "variantRsId": "rs1060500871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24", "Colorectal cancer, susceptibility to, 12"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 12", "diseaseFromSourceId": "C3554460", "diseaseFromSourceMappedId": "MONDO_0016362", "variantHgvsId": "NC_000012.12:g.132625692C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001042799", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "5_141573996_T_TGGAGGAGGAGGA", "variantRsId": "rs3075570", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141573998_141574000GAG[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001044664", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_82091018_C_T", "variantRsId": "rs775845460", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82091018C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_163681", "variantHgvsId": "NC_000007.14:g.148229669C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049118", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000174469", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148229669_C_G", "variantRsId": "rs756994633", "cohortPhenotypes": ["Cortical dysplasia-focal epilepsy syndrome", "Pitt-Hopkins-like syndrome 1"], "diseaseFromSource": "Cortical dysplasia-focal epilepsy syndrome", "diseaseFromSourceId": "C2750246", "diseaseFromSourceMappedId": "Orphanet_221150", "variantHgvsId": "NC_000007.14:g.148229669C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050174", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000106462", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_148846484_G_A", "variantRsId": "rs141583753", "cohortPhenotypes": ["Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly", "Weaver Smith syndrome", "Weaver syndrome"], "diseaseFromSource": "Weaver syndrome", "diseaseFromSourceId": "C0265210", "diseaseFromSourceMappedId": "MONDO_0010193", "variantHgvsId": "NC_000007.14:g.148846484G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "MONDO_0012075", "variantHgvsId": "NC_000017.11:g.65538242G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001050474", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000168646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_65538242_G_C", "variantRsId": "rs1598100863", "cohortPhenotypes": ["Oligodontia-cancer predisposition syndrome", "Oligodontia-colorectal cancer syndrome", "TOOTH AGENESIS-COLORECTAL CANCER SYNDROME"], "diseaseFromSource": "Oligodontia-cancer predisposition syndrome", "diseaseFromSourceId": "C1837750", "diseaseFromSourceMappedId": "Orphanet_300576", "variantHgvsId": "NC_000017.11:g.65538242G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001052705", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000167286", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_118340537_T_C", "variantRsId": "rs1346172061", "cohortPhenotypes": ["CD3-DELTA DEFICIENCY", "Immunodeficiency 19", "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE"], "diseaseFromSource": "Immunodeficiency 19", "diseaseFromSourceId": "C3810147", "diseaseFromSourceMappedId": "MONDO_0015823", "variantHgvsId": "NC_000011.10:g.118340537T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001055216", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108251072_G_T", "variantRsId": "rs769788188", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108251072G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001056107", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000103150", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_83899641_C_T", "variantRsId": "rs774598772", "cohortPhenotypes": ["Deficiency of malonyl-CoA decarboxylase", "MCD deficiency", "Malonic acidemia", "Malonic aciduria"], "diseaseFromSource": "Deficiency of malonyl-CoA decarboxylase", "diseaseFromSourceId": "C0342793", "diseaseFromSourceMappedId": "MONDO_0009556", "variantHgvsId": "NC_000016.10:g.83899641C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001067011", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000162688", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_99851113_G_C", "variantRsId": "rs772905291", "cohortPhenotypes": ["Amylo-1,6-glucosidase deficiency", "Cori disease", "Forbes disease", "Glycogen debrancher deficiency", "Glycogen storage disease type 3", "Glycogen storage disease type III", "Limit dextrinosis"], "diseaseFromSource": "Glycogen storage disease type III", "diseaseFromSourceId": "C0017922", "diseaseFromSourceMappedId": "MONDO_0009291", "variantHgvsId": "NC_000001.11:g.99851113G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001074281", "releaseDate": "2020-04-18", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129532306_C_A", "variantRsId": "rs765931092", "cohortPhenotypes": ["Retinal dystrophy"], "diseaseFromSource": "Retinal dystrophy", "diseaseFromSourceId": "C0854723", "diseaseFromSourceMappedId": "Orphanet_71862", "variantHgvsId": "NC_000003.12:g.129532306C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107460", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000110756", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_18295112_A_G", "variantRsId": "rs150590027", "cohortPhenotypes": ["Hermansky-Pudlak syndrome 5"], "diseaseFromSource": "Hermansky-Pudlak syndrome 5", "diseaseFromSourceId": "C3888004", "diseaseFromSourceMappedId": "MONDO_0016502", "variantHgvsId": "NC_000011.10:g.18295112A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001148014", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000168827", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_158645740_C_A", "variantRsId": "rs62286651", "cohortPhenotypes": ["Combined oxidative phosphorylation deficiency 1", "HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE", "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"], "diseaseFromSource": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1", "diseaseFromSourceId": "C1836797", "diseaseFromSourceMappedId": "Orphanet_137681", "variantHgvsId": "NC_000003.12:g.158645740C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "MONDO_0008695", "variantHgvsId": "NC_000009.12:g.77219947T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001165489", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000197969", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "9_77219947_T_C", "variantRsId": "rs377234046", "cohortPhenotypes": ["Acanthocytosis with neurologic disorder", "Chorea-acanthocytosis", "Choreaacanthocytosis", "Choreoacanthocytosis", "Levine-Critchley syndrome"], "diseaseFromSource": "Chorea-acanthocytosis", "diseaseFromSourceId": "C0393576", "diseaseFromSourceMappedId": "Orphanet_2388", "variantHgvsId": "NC_000009.12:g.77219947T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169454", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000119121", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_74840057_C_T", "variantRsId": "rs150874152", "cohortPhenotypes": ["HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA", "HYPOMAGNESEMIC TETANY", "Intestinal hypomagnesemia 1"], "diseaseFromSource": "Intestinal hypomagnesemia 1", "diseaseFromSourceId": "C1865974", "diseaseFromSourceMappedId": "MONDO_0011176", "variantHgvsId": "NC_000009.12:g.74840057C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001188935", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000171862", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "10_87960884_T_C", "variantRsId": "rs1270511778", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000010.11:g.87960884T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001190260", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000096696", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_7585543_G_A", "variantRsId": "rs376751288", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000006.12:g.7585543G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202070", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000196998", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_49075418_T_G", "variantRsId": "rs2065031040", "cohortPhenotypes": ["Beta-propeller protein-associated neurodegeneration", "Neurodegeneration with brain iron accumulation 5", "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD"], "diseaseFromSource": "Neurodegeneration with brain iron accumulation 5", "diseaseFromSourceId": "C3550973", "diseaseFromSourceMappedId": "MONDO_0010476", "variantHgvsId": "NC_000023.11:g.49075418T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "MONDO_0012476", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Hereditary spastic paraplegia 30", "diseaseFromSourceId": "C5235139", "diseaseFromSourceMappedId": "Orphanet_101010", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Neuropathy, hereditary sensory, type 2C", "diseaseFromSourceId": "C3280168", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "MONDO_0013656", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001202908", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000130294", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_240722591_C_T", "variantRsId": "rs767349300", "cohortPhenotypes": ["Hereditary sensory and autonomic neuropathy type IIC", "Hereditary spastic paraplegia 30", "Intellectual disability, autosomal dominant 9", "Mental retardation, autosomal dominant 9", "NESCAV SYNDROME", "NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT", "Neuropathy, hereditary sensory, type 2C", "SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT", "Spastic paraplegia 30, autosomal recessive"], "diseaseFromSource": "Intellectual disability, autosomal dominant 9", "diseaseFromSourceId": "C5393830", "diseaseFromSourceMappedId": "EFO_0003847", "variantHgvsId": "NC_000002.12:g.240722591C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203411", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_2884842_C_T", "variantRsId": "rs1848929968", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884842C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001203905", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000139174", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_42460008_G_A", "variantRsId": "rs1937743406", "cohortPhenotypes": ["Epilepsy, progressive myoclonic, 1B", "PME", "PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia", "Progressive myoclonus epilepsy with ataxia"], "diseaseFromSource": "Epilepsy, progressive myoclonic, 1B", "diseaseFromSourceId": "C2676254", "diseaseFromSourceMappedId": "Orphanet_308", "variantHgvsId": "NC_000012.12:g.42460008G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001204459", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81908423_C_T", "variantRsId": "rs72824905", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81908423C>T"} 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"variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_82087051_C_T", "variantRsId": "rs761637918", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82087051C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Seizures, benign familial infantile, 3", "diseaseFromSourceId": "C1843140", "diseaseFromSourceMappedId": "Orphanet_140927", "variantHgvsId": "NC_000002.12:g.165354483G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001212575", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000136531", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165354483_G_A", "variantRsId": "rs1553584033", "cohortPhenotypes": ["CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3", "Developmental and epileptic encephalopathy, 11", "Early infantile epileptic encephalopathy 11", "Familial neonatal seizures", "Seizures, benign familial infantile, 3"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 11", "diseaseFromSourceId": "C3150987", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165354483G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000181523", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80208194AGG[2]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001213589", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "17_80208193_CAGG_C", "variantRsId": "rs937454631", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 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"genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001214622", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "Orphanet_98908", "variantHgvsId": "NC_000011.10:g.823734dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001214622", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_823728_G_GC", "variantRsId": "rs1343828094", "cohortPhenotypes": ["Neutral lipid storage disease with myopathy", "Neutral lipid storage disease without ichthyosis", "Neutral lipid storage myopathy"], "diseaseFromSource": "Neutral lipid storage myopathy", "diseaseFromSourceId": "C1853136", "diseaseFromSourceMappedId": "MONDO_0012545", "variantHgvsId": "NC_000011.10:g.823734dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "MONDO_0009892", "variantHgvsId": "NC_000003.12:g.10142092G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Chuvash polycythemia", "diseaseFromSourceId": "C1837915", "diseaseFromSourceMappedId": "Orphanet_90042", "variantHgvsId": "NC_000003.12:g.10142092G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001219698", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000134086", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10142092_G_A", "variantRsId": "rs794726890", "cohortPhenotypes": ["Chuvash polycythemia", "Erythrocytosis, familial, 2", "POLYCYTHEMIA, VHL-DEPENDENT", "VHL syndrome", "Von Hippel-Lindau", "Von Hippel-Lindau syndrome"], "diseaseFromSource": "Von Hippel-Lindau syndrome", "diseaseFromSourceId": "C0019562", "diseaseFromSourceMappedId": "MONDO_0008667", "variantHgvsId": "NC_000003.12:g.10142092G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001220807", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000022267", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_136206494_A_G", "variantRsId": "rs1187549360", "cohortPhenotypes": ["X-linked myopathy with postural muscle atrophy"], "diseaseFromSource": "X-linked myopathy with postural muscle atrophy", "diseaseFromSourceId": "C2678055", "diseaseFromSourceMappedId": "MONDO_0010401", "variantHgvsId": "NC_000023.11:g.136206494A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001226988", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000110274", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_117363444_A_G", "variantRsId": "rs777527578", "cohortPhenotypes": ["Nephronophthisis 15"], "diseaseFromSource": "Nephronophthisis 15", "diseaseFromSourceId": "C3541853", "diseaseFromSourceMappedId": "MONDO_0017842", "variantHgvsId": "NC_000011.10:g.117363444A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232017", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2087931_G_T", "variantRsId": "rs200700923", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2087931G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63189337T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232020", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63189337_T_C", "variantRsId": "rs747616915", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63189337T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001233569", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000198003", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11423877_G_C", "variantRsId": "rs1361894803", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 30"], "diseaseFromSource": "Primary ciliary dyskinesia 30", "diseaseFromSourceId": "C4015016", "variantHgvsId": "NC_000019.10:g.11423877G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001236792", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000106617", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_151781271_C_T", "variantRsId": "rs369471907", "cohortPhenotypes": ["GLYCOGEN STORAGE DISEASE OF HEART", "Lethal congenital glycogen storage disease of heart", "PHOSPHORYLASE KINASE DEFICIENCY OF HEART"], "diseaseFromSource": "Lethal congenital glycogen storage disease of heart", "diseaseFromSourceId": "C1849813", "diseaseFromSourceMappedId": "MONDO_0009867", "variantHgvsId": "NC_000007.14:g.151781271C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001242233", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000005339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_3757313_C_T", "variantRsId": "rs2052609627", "cohortPhenotypes": ["Broad thumb-hallux syndrome", "Rubinstein-Taybi syndrome"], "diseaseFromSource": "Rubinstein-Taybi syndrome", "diseaseFromSourceId": "C0035934", "diseaseFromSourceMappedId": "MONDO_0019188", "variantHgvsId": "NC_000016.10:g.3757313C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1592176C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1592176C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001249674", "releaseDate": "2020-07-25", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_1592176_C_T", "variantRsId": "rs201188361", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "Retinitis pigmentosa 80", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Retinitis pigmentosa 80", "diseaseFromSourceId": "C4540439", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000016.10:g.1592176C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001257226", "releaseDate": "2020-09-27", "targetFromSourceId": "ENSG00000101306", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_31820482_G_A", "variantRsId": "rs1278523169", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 1", "Hypertrophic cardiomyopathy 1", "MYH7-Related Familial Hypertrophic Cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy 1", "diseaseFromSourceId": "C3495498", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000020.11:g.31820482G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001266493", "releaseDate": "2020-11-21", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "14_23420200_G_GCCTCCAGCTCCT", "variantRsId": "rs1064792935", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000014.9:g.23420202CTCCAGCTCCTC[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001273385", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000150275", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_53866837_G_T", "variantRsId": "rs753725514", "cohortPhenotypes": ["USHER SYNDROME, TYPE IF", "Usher syndrome type 1F"], "diseaseFromSource": "Usher syndrome type 1F", "diseaseFromSourceId": "C1865885", "diseaseFromSourceMappedId": "MONDO_0019501", "variantHgvsId": "NC_000010.11:g.53866837G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001279515", "releaseDate": "2021-01-02", "targetFromSourceId": "ENSG00000070061", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "9_108929931_A_G", "variantRsId": "rs768610434", "cohortPhenotypes": ["FD", "Familial dysautonomia", "HSAN 3", "HSAN III", "HSN 3", "Hereditary sensory and autonomic neuropathy 3", "Hereditary sensory neuropathy type 3", "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III", "Riley Day syndrome"], "diseaseFromSource": "Familial dysautonomia", "diseaseFromSourceId": "C0013364", "diseaseFromSourceMappedId": "Orphanet_1764", "variantHgvsId": "NC_000009.12:g.108929931A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001294696", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000112319", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_133468630_A_G", "variantRsId": "rs1795052577", "cohortPhenotypes": ["CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT", "Dilated cardiomyopathy 1J"], "diseaseFromSource": "Dilated cardiomyopathy 1J", "diseaseFromSourceId": "C1854368", "diseaseFromSourceMappedId": "Orphanet_217622", "variantHgvsId": "NC_000006.12:g.133468630A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001298532", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000113522", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_132591382_A_G", "variantRsId": "rs1322845292", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.132591382A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300402", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000104450", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_100213182_A_C", "variantRsId": "rs1246342969", "cohortPhenotypes": ["CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS", "Primary ciliary dyskinesia 28"], "diseaseFromSource": "Primary ciliary dyskinesia 28", "diseaseFromSourceId": "C3809706", "variantHgvsId": "NC_000008.11:g.100213182A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "Orphanet_317425", "variantHgvsId": "NC_000008.11:g.47837340A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001300925", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000253729", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_47837340_A_C", "variantRsId": "rs2088049317", "cohortPhenotypes": ["IMMUNODEFICIENCY 26 WITH NEUROLOGIC ABNORMALITIES", "Immunodeficiency 26 with or without neurologic abnormalities", "Severe combined immunodeficiency due to DNA-PKcs deficiency"], "diseaseFromSource": "Severe combined immunodeficiency due to DNA-PKcs deficiency", "diseaseFromSourceId": "C4014833", "diseaseFromSourceMappedId": "MONDO_0014423", "variantHgvsId": "NC_000008.11:g.47837340A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES"], "diseaseFromSource": "Intellectual disability, autosomal dominant 6", "diseaseFromSourceId": "C3151411", "variantHgvsId": "NC_000012.12:g.13562994G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001302345", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000273079", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_13562994_G_A", "variantRsId": "rs201463390", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 27", "Epileptic encephalopathy, early infantile, 27", "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES", "Intellectual disability, autosomal dominant 6", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 27", "diseaseFromSourceId": "C4015316", "diseaseFromSourceMappedId": "Orphanet_3451", "variantHgvsId": "NC_000012.12:g.13562994G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001309755", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_30623057_G_C", "variantRsId": "rs4820889", "cohortPhenotypes": ["TC II DEFICIENCY", "TCN2 DEFICIENCY", "Transcobalamin II deficiency", "Transcolabamin II deficiency"], "diseaseFromSource": "Transcobalamin II deficiency", "diseaseFromSourceId": "C0342701", "diseaseFromSourceMappedId": "Orphanet_859", "variantHgvsId": "NC_000022.11:g.30623057G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001316006", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000177663", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_17108508_G_C", "variantRsId": "rs192300437", "cohortPhenotypes": ["CANDIDIASIS, FAMILIAL, 5", "Immunodeficiency 51"], "diseaseFromSource": "Immunodeficiency 51", "diseaseFromSourceId": "C4310803", "diseaseFromSourceMappedId": "MONDO_0013500", "variantHgvsId": "NC_000022.11:g.17108508G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "MONDO_0012034", "variantHgvsId": "NC_000007.14:g.129005130A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318634", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000064419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_129005130_A_T", "variantRsId": "rs148885407", "cohortPhenotypes": ["Autosomal dominant limb-girdle muscular dystrophy type 1F", "Limb-girdle muscular dystrophy, type 1F", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2"], "diseaseFromSource": "Autosomal dominant limb-girdle muscular dystrophy type 1F", "diseaseFromSourceId": "C1842062", "diseaseFromSourceMappedId": "Orphanet_55595", "variantHgvsId": "NC_000007.14:g.129005130A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001318909", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000081189", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_88761241_T_C", "variantRsId": "rs1777713411", "cohortPhenotypes": ["Intellectual disability, autosomal dominant 20", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 20", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE"], "diseaseFromSource": "Intellectual disability, autosomal dominant 20", "diseaseFromSourceId": "C3150700", "variantHgvsId": "NC_000005.10:g.88761241T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001320507", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_108229236_G_A", "variantRsId": "rs1412024666", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108229236G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001325854", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000062822", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_50403111_C_G", "variantRsId": "rs759213871", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q", "Colorectal cancer 10", "Colorectal cancer, susceptibility to, 10"], "diseaseFromSource": "Colorectal cancer, susceptibility to, 10", "diseaseFromSourceId": "C2675481", "diseaseFromSourceMappedId": "EFO_0005842", "variantHgvsId": "NC_000019.10:g.50403111C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "MONDO_0016022", "variantHgvsId": "NC_000010.11:g.63186253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001343159", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000171988", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_63186253_T_C", "variantRsId": "rs1040108326", "cohortPhenotypes": ["Early myoclonic encephalopathy"], "diseaseFromSource": "Early myoclonic encephalopathy", "diseaseFromSourceId": "C0270855", "diseaseFromSourceMappedId": "EFO_1001900", "variantHgvsId": "NC_000010.11:g.63186253T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001345082", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000101204", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63350627_C_T", "variantRsId": "rs150082508", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy", "diseaseFromSourceId": "C3696898", "diseaseFromSourceMappedId": "MONDO_0020300", "variantHgvsId": "NC_000020.11:g.63350627C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001350975", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000141646", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_51054866_A_C", "variantRsId": "rs1203141844", "cohortPhenotypes": ["Juvenile polyposis syndrome", "Polyposis familial of entire gastrointestinal tract", "Polyposis juvenile intestinal"], "diseaseFromSource": "Juvenile polyposis syndrome", "diseaseFromSourceId": "C0345893", "diseaseFromSourceMappedId": "MONDO_0017380", "variantHgvsId": "NC_000018.10:g.51054866A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001351367", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2085246_G_T", "variantRsId": "rs769834772", "cohortPhenotypes": ["Tuberous sclerosis 2"], "diseaseFromSource": "Tuberous sclerosis 2", "diseaseFromSourceId": "C1860707", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2085246G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001352157", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_68210415_C_T", "variantRsId": "rs781048271", "cohortPhenotypes": ["Dilated cardiomyopathy 1KK"], "diseaseFromSource": "Dilated cardiomyopathy 1KK", "diseaseFromSourceId": "C3714995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.68210415C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361662", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000196296", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_28900872_A_C", "cohortPhenotypes": ["BRODY DISEASE", "Brody myopathy"], "diseaseFromSource": "Brody myopathy", "diseaseFromSourceId": "C1832918", "diseaseFromSourceMappedId": "MONDO_0010977", "variantHgvsId": "NC_000016.10:g.28900872A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Pityriasis rubra pilaris", "diseaseFromSourceId": "C0032027", "diseaseFromSourceMappedId": "MONDO_0008251", "variantHgvsId": "NC_000017.11:g.80195553T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001363924", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000141527", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80195553_T_G", "cohortPhenotypes": ["Pityriasis rubra pilaris", "Pityriasis rubra pilaris--familial type", "Psoriasis 2", "Psoriasis susceptibility 2"], "diseaseFromSource": "Psoriasis 2", "diseaseFromSourceId": "C1864497", "diseaseFromSourceMappedId": "EFO_0000676", "variantHgvsId": "NC_000017.11:g.80195553T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001373298", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000155980", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_57578284_A_G", "cohortPhenotypes": ["Spastic paraplegia"], "diseaseFromSource": "Spastic paraplegia", "diseaseFromSourceId": "C0037772", "diseaseFromSourceMappedId": "HP_0001258", "variantHgvsId": "NC_000012.12:g.57578284A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Autosomal dominant hypocalcemia 1", "diseaseFromSourceId": "C0342345", "variantHgvsId": "NC_000003.12:g.122275959G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001377998", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000036828", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_122275959_G_C", "cohortPhenotypes": ["Autosomal dominant hypocalcemia 1", "Familial benign hypercalcemia", "Familial hypocalciuric hypercalcemia", "HYPOCALCEMIA, FAMILIAL"], "diseaseFromSource": "Familial hypocalciuric hypercalcemia", "diseaseFromSourceId": "C1809471", "diseaseFromSourceMappedId": "MONDO_0018458", "variantHgvsId": "NC_000003.12:g.122275959G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001378744", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_35658026_C_CAGCTTCACAGAGTAGCTTCACAGAGT", "cohortPhenotypes": ["Anauxetic dysplasia", "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE", "SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE"], "diseaseFromSource": "Anauxetic dysplasia", "diseaseFromSourceId": "C1846796", "diseaseFromSourceMappedId": "MONDO_0011773", "variantHgvsId": "NC_000009.12:g.35658029CTTCACAGAGTAG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001386995", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000160789", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "1_156136375_TG_T", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 2", "Charcot-Marie-Tooth, Type 2"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 2", "diseaseFromSourceId": "C0270914", "diseaseFromSourceMappedId": "MONDO_0018993", "variantHgvsId": "NC_000001.11:g.156136377del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001397542", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000171298", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_80118365_C_A", "cohortPhenotypes": ["ACID ALPHA-GLUCOSIDASE DEFICIENCY", "Acid maltase deficiency disease", "Aglucosidase alfa", "Alpha-1,4-glucosidase deficiency", "Cardiomegalia glycogenica diffusa", "Deficiency of alpha-glucosidase", "Deficiency of lysosomal alpha-glucosidase", "GLYCOGENOSIS, GENERALIZED, CARDIAC FORM", "GSD II", "Glycogen Storage Disease Type II (Pompe Disease)", "Glycogen storage disease type 2", "Glycogen storage disease, type II"], "diseaseFromSource": "Glycogen storage disease, type II", "diseaseFromSourceId": "C0017921", "diseaseFromSourceMappedId": "Orphanet_365", "variantHgvsId": "NC_000017.11:g.80118365C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001403013", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000101347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "20_36911288_T_C", "cohortPhenotypes": ["Aicardi-Goutieres syndrome 5"], "diseaseFromSource": "Aicardi-Goutieres syndrome 5", "diseaseFromSourceId": "C2749659", "variantHgvsId": "NC_000020.11:g.36911288T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "MONDO_0009458", "variantHgvsId": "NC_000002.12:g.216450935G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001405188", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000138375", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_216450935_G_A", "cohortPhenotypes": ["Schimke immuno-osseous dysplasia", "Schimke immunoosseous dysplasia", "Schimke syndrome", "Spondyloepiphyseal dysplasia nephrotic syndrome"], "diseaseFromSource": "Schimke immuno-osseous dysplasia", "diseaseFromSourceId": "C0877024", "diseaseFromSourceMappedId": "Orphanet_1830", "variantHgvsId": "NC_000002.12:g.216450935G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "MONDO_0007424", "variantHgvsId": "NC_000005.10:g.141579091C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 1", "diseaseFromSourceId": "C1852282", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000005.10:g.141579091C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406516", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000131504", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_141579091_C_T", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 1", "DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA", "Deafness, autosomal dominant 1", "KONIGSMARK SYNDROME", "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "Seizures, cortical blindness, and microcephaly syndrome"], "diseaseFromSource": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "diseaseFromSourceId": "C4225261", "diseaseFromSourceMappedId": "MONDO_0014714", "variantHgvsId": "NC_000005.10:g.141579091C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407545", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31519811_C_T", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10", "Arrhythmogenic right ventricular cardiomyopathy, type 10", "Arrhythmogenic right ventricular dysplasia 10", "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 10", "diseaseFromSourceId": "C1857777", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000018.10:g.31519811C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001410350", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000129757", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "11_2884860_G_GGGGGCCGGGGCCGGGGCC", "cohortPhenotypes": ["Beckwith-Wiedemann syndrome", "EMG Syndrome", "Exomphalos macroglossia gigantism syndrome"], "diseaseFromSource": "Beckwith-Wiedemann syndrome", "diseaseFromSourceId": "C0004903", "diseaseFromSourceMappedId": "MONDO_0007534", "variantHgvsId": "NC_000011.10:g.2884866CGGGGC[7]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000108556", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_4899476_G_A", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001418517", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000205710", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_4899476_G_A", "cohortPhenotypes": ["CONGENITAL MYASTHENIC SYNDROME TYPE Ia1", "Congenital myasthenic syndrome 4A", "MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, AUTOSOMAL RECESSIVE", "Myasthenic syndrome, congenital, 4a, slow-channel"], "diseaseFromSource": "Congenital myasthenic syndrome 4A", "diseaseFromSourceId": "C4225413", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000017.11:g.4899476G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001422989", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000139687", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "13_48379596_A_T", "cohortPhenotypes": ["Eye cancer, retinoblastoma", "RETINOBLASTOMA, SOMATIC", "Retinoblastoma"], "diseaseFromSource": "Retinoblastoma", "diseaseFromSourceId": "C0035335", "diseaseFromSourceMappedId": "MONDO_0008380", "variantHgvsId": "NC_000013.11:g.48379596A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001425620", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000197943", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_81786077_G_T", "cohortPhenotypes": ["ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "FAMILIAL ATYPICAL COLD URTICARIA", "Familial cold autoinflammatory syndrome 3"], "diseaseFromSource": "Familial cold autoinflammatory syndrome 3", "diseaseFromSourceId": "C3280914", "diseaseFromSourceMappedId": "Orphanet_247868", "variantHgvsId": "NC_000016.10:g.81786077G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001430134", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000138078", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_44326835_C_T", "cohortPhenotypes": ["Myasthenic syndrome, congenital, 22", "PREPL DEFICIENCY"], "diseaseFromSource": "Myasthenic syndrome, congenital, 22", "diseaseFromSourceId": "C4479088", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000002.12:g.44326835C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001442253", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_150947399_G_A", "cohortPhenotypes": ["Long QT syndrome"], "diseaseFromSource": "Long QT syndrome", "diseaseFromSourceId": "C0023976", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000007.14:g.150947399G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "Orphanet_156", "variantHgvsId": "NC_000011.10:g.68799323T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001446314", "releaseDate": "2021-05-23", "targetFromSourceId": "ENSG00000110090", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_68799323_T_C", "cohortPhenotypes": ["CPT deficiency, hepatic, type IA", "CPT1A deficiency", "Carnitine Palmitoyltransferase IA Deficiency", "Carnitine palmitoyl transferase 1 deficiency", "Carnitine palmitoyl transferase 1A deficiency", "Carnitine palmitoyltransferase 1A deficiency", "Carnitine palmitoyltransferase type I deficiency", "Hepatic CPT1", "Hepatic carnitine palmitoyltransferase 1 deficiency", "L-CPT 1 deficiency"], "diseaseFromSource": "Carnitine palmitoyl transferase 1A deficiency", "diseaseFromSourceId": "C1829703", "diseaseFromSourceMappedId": "MONDO_0009705", "variantHgvsId": "NC_000011.10:g.68799323T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001457218", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000184470", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_19918970_G_A", "variantRsId": "rs575321083", "cohortPhenotypes": ["Dilated Cardiomyopathy", "Primary dilated cardiomyopathy"], "diseaseFromSource": "Primary dilated cardiomyopathy", "diseaseFromSourceId": "C0007193", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000022.11:g.19918970G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001460318", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000197728", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_56042502_C_T", "cohortPhenotypes": ["Diamond-Blackfan anemia 10"], "diseaseFromSource": "Diamond-Blackfan anemia 10", "diseaseFromSourceId": "C2750080", "diseaseFromSourceMappedId": "Orphanet_124", "variantHgvsId": "NC_000012.12:g.56042502C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001464082", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000106976", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_128234044_G_A", "variantRsId": "rs968662562", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 31", "Epileptic encephalopathy, early infantile, 31"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 31", "diseaseFromSourceId": "C4225357", "diseaseFromSourceMappedId": "Orphanet_2382", "variantHgvsId": "NC_000009.12:g.128234044G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472009", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "14_23415841_C_G", "cohortPhenotypes": ["Hypertrophic cardiomyopathy"], "diseaseFromSource": "Hypertrophic cardiomyopathy", "diseaseFromSourceId": "C0007194", "diseaseFromSourceMappedId": "EFO_0000538", "variantHgvsId": "NC_000014.9:g.23415841C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Dilated cardiomyopathy 1G", "diseaseFromSourceId": "C1858763", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000002.12:g.178782223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "MONDO_0012127", "variantHgvsId": "NC_000002.12:g.178782223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001472522", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178782223_G_A", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Dilated cardiomyopathy 1G", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2J", "diseaseFromSourceId": "C1837342", "diseaseFromSourceMappedId": "Orphanet_263", "variantHgvsId": "NC_000002.12:g.178782223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001473659", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000174775", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_534307_G_A", "variantRsId": "rs763376142", "cohortPhenotypes": ["Costello syndrome", "FCS syndrome", "Faciocutaneoskeletal syndrome"], "diseaseFromSource": "Costello syndrome", "diseaseFromSourceId": "C0587248", "diseaseFromSourceMappedId": "MONDO_0009026", "variantHgvsId": "NC_000011.10:g.534307G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "MONDO_0010233", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Heterotopia, periventricular, X-linked dominant", "diseaseFromSourceId": "C1848213", "diseaseFromSourceMappedId": "Orphanet_98892", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Melnick-Needles syndrome", "diseaseFromSourceId": "C0025237", "diseaseFromSourceMappedId": "Orphanet_2484", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Oto-palato-digital syndrome, type II", "diseaseFromSourceId": "C1844696", "diseaseFromSourceMappedId": "MONDO_0010571", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001474561", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000196924", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "X_154354843_G_A", "variantRsId": "rs782086308", "cohortPhenotypes": ["Andre syndrome", "Cranio-oro-digital syndrome", "Ehlers-Danlos syndrome with periventricular heterotopia", "Faciopalatoosseous syndrome", "Frontometaphyseal dysplasia", "HETEROTOPIA, PERIVENTRICULAR, 1", "Heterotopia familial nodular", "Heterotopia, periventricular, Ehlers-Danlos variant", "Heterotopia, periventricular, X-linked dominant", "Melnick-Needles osteodysplasty", "Melnick-Needles syndrome", "Nodular heterotopia bilateral periventricular", "OPD 2 syndrome", "OPD II SYNDROME", "Osteodysplasty of Melnick and Needles", "Oto-Palatal-digital syndrome", "Oto-palato-digital syndrome type 2", "Oto-palato-digital syndrome, type II", "Otopalatodigital Syndrome, Type II", "PERIVENTRICULAR NODULAR HETEROTOPIA 4", "Periventricular nodular heterotopia 1", "X-linked periventricular heterotopia", "type 2 (Andre syndrome)"], "diseaseFromSource": "Frontometaphyseal dysplasia", "diseaseFromSourceId": "C0265293", "diseaseFromSourceMappedId": "MONDO_0015942", "variantHgvsId": "NC_000023.11:g.154354843G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001481529", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000169710", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_82088381_C_A", "cohortPhenotypes": ["Epileptic encephalopathy"], "diseaseFromSource": "Epileptic encephalopathy", "diseaseFromSourceId": "C0543888", "diseaseFromSourceMappedId": "HP_0200134", "variantHgvsId": "NC_000017.11:g.82088381C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001483434", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000104419", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_133246619_G_A", "cohortPhenotypes": ["Charcot-Marie-Tooth disease type 4", "Charcot-Marie-Tooth, Type 4"], "diseaseFromSource": "Charcot-Marie-Tooth disease type 4", "diseaseFromSourceId": "C4082197", "diseaseFromSourceMappedId": "MONDO_0018995", "variantHgvsId": "NC_000008.11:g.133246619G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001494713", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000204406", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_148485878_G_A", "variantRsId": "rs572893308", "cohortPhenotypes": ["INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1", "Intellectual disability, autosomal dominant 1"], "diseaseFromSource": "Intellectual disability, autosomal dominant 1", "diseaseFromSourceId": "C1969562", "variantHgvsId": "NC_000002.12:g.148485878G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "Orphanet_140969", "variantHgvsId": "NC_000016.10:g.1568201C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001496672", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000187535", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "16_1568201_C_A", "cohortPhenotypes": ["Conorenal syndrome", "Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia", "SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY", "SHORT-RIB THORACIC DYSPLASIA 9 WITHOUT POLYDACTYLY", "Saldino-Mainzer syndrome"], "diseaseFromSource": "Saldino-Mainzer syndrome", "diseaseFromSourceId": "C1849437", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000016.10:g.1568201C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001501915", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000177565", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "3_177026481_G_C", "cohortPhenotypes": ["Pierpont syndrome"], "diseaseFromSource": "Pierpont syndrome", "diseaseFromSourceId": "C1865644", "diseaseFromSourceMappedId": "MONDO_0011213", "variantHgvsId": "NC_000003.12:g.177026481G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001525476", "releaseDate": "2021-06-19", "targetFromSourceId": "ENSG00000046604", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "18_31521110_C_T", "variantRsId": "rs369489095", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000018.10:g.31521110C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001762380", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000138081", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "2_47805024_T_G", "variantRsId": "rs786202777", "cohortPhenotypes": ["Endometrial carcinoma", "Endometrial carcinoma, somatic"], "diseaseFromSource": "Endometrial carcinoma", "diseaseFromSourceId": "C0476089", "diseaseFromSourceMappedId": "EFO_0004230", "variantHgvsId": "NC_000002.12:g.47805024T>G"} +{"alleleOrigins": ["de novo"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001806428", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000075043", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_63446818_A_C", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 7", "Early infantile epileptic encephalopathy 7", "KCNQ2-Related Neonatal Epileptic Encephalopathy"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 7", "diseaseFromSourceId": "C3150986", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000020.11:g.63446818A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001831355", "releaseDate": "2022-02-20", "targetFromSourceId": "ENSG00000277027", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "9_35658027_A_AGCTTCACAGAGTAGTGCTTCACAGAGTAGT", "cohortPhenotypes": ["Cartilage-Hair Hypoplasia", "Metaphyseal chondrodysplasia, McKusick type"], "diseaseFromSource": "Metaphyseal chondrodysplasia, McKusick type", "diseaseFromSourceId": "C0220748", "diseaseFromSourceMappedId": "MONDO_0009595", "variantHgvsId": "NC_000009.11:g.35658025_35658039[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV001832466", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000278570", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_71811830_C_T", "variantRsId": "rs990307718", "cohortPhenotypes": ["Enhanced S-cone syndrome"], "diseaseFromSource": "Enhanced S-cone syndrome", "diseaseFromSourceId": "C1849394", "diseaseFromSourceMappedId": "MONDO_0100289", "variantHgvsId": "NC_000015.10:g.71811830C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001833776", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000159921", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_36217484_G_T", "variantRsId": "rs139347806", "cohortPhenotypes": ["GNE myopathy", "GNE-Related Myopathies", "IBM 2", "INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE", "Inclusion body myopathy 2", "Inclusion body myopathy autosomal recessive", "Inclusion body myopathy quadriceps sparing", "MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES", "Nonaka distal myopathy", "Nonaka myopathy"], "diseaseFromSource": "GNE myopathy", "diseaseFromSourceId": "C1853926", "diseaseFromSourceMappedId": "Orphanet_602", "variantHgvsId": "NC_000009.12:g.36217484G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "Orphanet_247", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001914760", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000170876", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "3_14129450_T_TAAAACCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5", "Arrhythmogenic right ventricular cardiomyopathy, type 5", "Arrhythmogenic right ventricular dysplasia 5"], "diseaseFromSource": "Arrhythmogenic right ventricular dysplasia 5", "diseaseFromSourceId": "C1858379", "diseaseFromSourceMappedId": "MONDO_0011459", "variantHgvsId": "NC_000003.12:g.14129451_14129465A[4]CCAGCTCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Dyskeratosis congenita, autosomal recessive 5", "diseaseFromSourceId": "C3554656", "diseaseFromSourceMappedId": "MONDO_0014076", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001942239", "releaseDate": "2022-05-24", "targetFromSourceId": "ENSG00000258366", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "20_63695551_CTG_C", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal recessive 5", "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"], "diseaseFromSource": "Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3", "diseaseFromSourceId": "C4225346", "diseaseFromSourceMappedId": "EFO_1001501", "variantHgvsId": "NC_000020.11:g.63695552TG[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001951015", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000160224", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "21_44293126_A_ACTCCTCGGCCCTGCACCCCCTT", "cohortPhenotypes": ["APS 1", "APS I", "AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA", "Autoimmune polyendocrine syndrome type 1", "Autoimmune polyendocrinopathy syndrome, type I", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)", "Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis", "PGA 1", "PGA I", "Polyglandular autoimmune syndrome, type 1", "Whitaker syndrome"], "diseaseFromSource": "Polyglandular autoimmune syndrome, type 1", "diseaseFromSourceId": "C0085859", "diseaseFromSourceMappedId": "Orphanet_3453", "variantHgvsId": "NC_000021.9:g.44293127_44293147CTC[2]GGCCCTGCACCCCCTTCTCCTCGGCCCTGCACCCCCT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001974720", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_73385925_G_GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73385926_73385942GAG[9]GAAGAGGAGGAGGAGGAGGA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001978896", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000091483", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "1_241504247_T_TAAAGAAAAGAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["Fumarase deficiency", "Fumarate Hydratase Deficiency", "Fumaric aciduria"], "diseaseFromSource": "Fumarase deficiency", "diseaseFromSourceId": "C0342770", "diseaseFromSourceMappedId": "MONDO_0011730", "variantHgvsId": "NC_000001.11:g.241504248_241504262AAAGA[2]A[4]TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "MONDO_0013839", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Hereditary sensory and autonomic neuropathy type 6", "diseaseFromSourceId": "C3539003", "diseaseFromSourceMappedId": "Orphanet_314381", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "MONDO_0014180", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001994464", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000151914", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_56572113_T_TATATTTTATTCTATTTATATTA", "cohortPhenotypes": ["Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "Epidermolysis bullosa simplex due to BP230 deficiency", "Epidermolysis bullosa simplex, autosomal recessive 2", "HSAN VI", "Hereditary sensory and autonomic neuropathy type 6", "Neuropathy, hereditary sensory and autonomic, type VI"], "diseaseFromSource": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency", "diseaseFromSourceId": "C3809470", "diseaseFromSourceMappedId": "Orphanet_304", "variantHgvsId": "NC_000006.12:g.56572114_56572115AT[2]TTTATTCTATTTATATTAAT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037939", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "17_31326182_T_TAGAAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31326183_31326188AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Jeune thoracic dystrophy", "diseaseFromSourceId": "C0265275", "diseaseFromSourceMappedId": "MONDO_0018770", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002072920", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000123607", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "2_165953651_G_GCCCGCCCGCTCA", "cohortPhenotypes": ["Chondroectodermal dysplasia-like syndrome", "Infantile thoracic dystrophy", "Jeune syndrome", "Jeune thoracic dystrophy", "Jeune's syndrome", "Nephronophthisis", "Short-rib thoracic dysplasia", "Thoracic pelvic phalangeal dystrophy", "juvenile nephronophthisis"], "diseaseFromSource": "Nephronophthisis", "diseaseFromSourceId": "C0687120", "diseaseFromSourceMappedId": "MONDO_0019005", "variantHgvsId": "NC_000002.12:g.165953652_165953656CCCG[2]CTCACCCGC[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000488607", "releaseDate": "2017-05-14", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["Pulmonary hypertension, primary, 1"], "diseaseFromSource": "Pulmonary hypertension, primary, 1", "diseaseFromSourceId": "C4552070", "diseaseFromSourceMappedId": "EFO_0001361", "variantHgvsId": "NC_000002.12:g.202377525_202519014del141490"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000705609", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000183337", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "X_40075123_T_A", "variantRsId": "rs61744882", "cohortPhenotypes": ["Microphthalmia cataracts radiculomegaly and septal heart defects", "Oculofaciocardiodental syndrome"], "diseaseFromSource": "Oculofaciocardiodental syndrome", "diseaseFromSourceId": "C1846265", "diseaseFromSourceMappedId": "MONDO_0010261", "variantHgvsId": "NC_000023.11:g.40075123T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000320492", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000108821", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_50185886_C_G", "variantRsId": "rs886053159", "cohortPhenotypes": ["Osteogenesis imperfecta"], "diseaseFromSource": "Osteogenesis imperfecta", "diseaseFromSourceId": "C0029434", "diseaseFromSourceMappedId": "MONDO_0019019", "variantHgvsId": "NC_000017.11:g.50185886C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000618080", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000138347", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_68122098_G_A", "variantRsId": "rs372218308", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000010.11:g.68122098G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000647147", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000203867", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_110812366_TC_AG", "variantRsId": "rs1554842673", "cohortPhenotypes": ["Dilated cardiomyopathy 1DD"], "diseaseFromSource": "Dilated cardiomyopathy 1DD", "diseaseFromSourceId": "C2750995", "diseaseFromSourceMappedId": "EFO_0000407", "variantHgvsId": "NC_000010.11:g.110812366_110812367delinsAG"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000802373", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000120071", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "17_46170849_ACTC_A", "variantRsId": "rs1597870189", "cohortPhenotypes": ["KANSL1-Related Intellectual Disability Syndrome", "Koolen-de Vries syndrome"], "diseaseFromSource": "Koolen-de Vries syndrome", "diseaseFromSourceId": "C1864871", "diseaseFromSourceMappedId": "MONDO_0012496", "variantHgvsId": "NC_000017.11:g.46170850_46170852del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001520269", "releaseDate": "2021-06-15", "targetFromSourceId": "ENSG00000116127", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "2_73601183_T_C", "variantRsId": "rs1320374", "cohortPhenotypes": ["Alstrom syndrome", "Alstrom's syndrome"], "diseaseFromSource": "Alstrom syndrome", "diseaseFromSourceId": "C0268425", "diseaseFromSourceMappedId": "MONDO_0008763", "variantHgvsId": "NC_000002.12:g.73601183T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001553540", "releaseDate": "2021-08-07", "targetFromSourceId": "ENSG00000177666", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "11_823863_C_G", "cohortPhenotypes": ["Muscle disorders", "Myopathy"], "diseaseFromSource": "Myopathy", "diseaseFromSourceId": "C0026848", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000011.10:g.823863C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000499412", "releaseDate": "2017-08-28", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112827194_C_T", "variantRsId": "rs137854580", "cohortPhenotypes": ["Classic familial adenomatous polyposis", "Familial adenomatous polyposis", "Familial adenomatous polyposis of the colon", "Familial intestinal polyposis", "Familial multiple polyposis", "Familial multiple polyposis syndrome", "Familial polyposis", "Familial polyposis of the colon", "Hereditary polyposis coli"], "diseaseFromSource": "Familial multiple polyposis syndrome", "diseaseFromSourceId": "C0032580", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112827194C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000004.12:g.3492943dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000533620", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000175920", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "4_3492937_A_AC", "variantRsId": "rs794727884", "cohortPhenotypes": ["Congenital myasthenic syndrome 10", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "Myasthenia, limb-girdle, familial", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 10", "diseaseFromSourceId": "C1850792", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000004.12:g.3492943dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001100115", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000142798", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_21841203_G_A", "variantRsId": "rs533824462", "cohortPhenotypes": ["Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities", "Schwartz-Jampel syndrome"], "diseaseFromSource": "Schwartz-Jampel syndrome", "diseaseFromSourceId": "C0036391", "diseaseFromSourceMappedId": "MONDO_0009717", "variantHgvsId": "NC_000001.11:g.21841203G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "Orphanet_52", "variantHgvsId": "NC_000020.11:g.10641678G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001384081", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000101384", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "20_10641678_G_A", "variantRsId": "rs1555827789", "cohortPhenotypes": ["Alagille syndrome 1", "Alagille syndrome due to a JAG1 point mutation", "JAG1-Related Alagille Syndrome"], "diseaseFromSource": "Alagille syndrome due to a JAG1 point mutation", "diseaseFromSourceId": "C1956125", "diseaseFromSourceMappedId": "MONDO_0016862", "variantHgvsId": "NC_000020.11:g.10641678G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Fetal akinesia deformation sequence 1", "diseaseFromSourceId": "C1276035", "diseaseFromSourceMappedId": "Orphanet_994", "variantHgvsId": "NC_000011.10:g.47438749G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002104093", "releaseDate": "2022-06-05", "targetFromSourceId": "ENSG00000165917", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_47438749_G_A", "cohortPhenotypes": ["Congenital myasthenic syndrome 11", "Fetal akinesia deformation sequence 1", "Fetal akinesia sequence", "Lethal Pena-Shokeir 1 syndrome", "MYASTHENIC SYNDROME, CONGENITAL, Ie", "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "Pena Shokeir syndrome, type 1", "Pena-Shokeir syndrome type I"], "diseaseFromSource": "Congenital myasthenic syndrome 11", "diseaseFromSourceId": "C4225367", "diseaseFromSourceMappedId": "Orphanet_590", "variantHgvsId": "NC_000011.10:g.47438749G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000663963", "releaseDate": "2018-07-21", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "15_48421682_GT_G", "variantRsId": "rs1555394220", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421684del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000666985", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "18_23539922_T_TC", "variantRsId": "rs1555633326", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23539924dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000697073", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_166277279_CA_C", "variantRsId": "rs753900410", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166277281del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "Orphanet_970", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Neuropathy, hereditary sensory and autonomic, type 2A", "diseaseFromSourceId": "C2752089", "diseaseFromSourceMappedId": "MONDO_0015364", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001232710", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000169432", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_166199096_C_T", "variantRsId": "rs199705100", "cohortPhenotypes": ["ACROOSTEOLYSIS, GIACCAI TYPE", "ACROOSTEOLYSIS, NEUROGENIC", "GEFS+, TYPE 7", "Generalized epilepsy with febrile seizures plus, type 7", "HSAN IIA", "HSAN2A", "Hereditary sensory and autonomic neuropathy type IIA", "NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE", "NEUROPATHY, HEREDITARY SENSORY, TYPE IIA", "Neuropathy, hereditary sensory and autonomic, type 2A"], "diseaseFromSource": "Generalized epilepsy with febrile seizures plus, type 7", "diseaseFromSourceId": "C2751778", "diseaseFromSourceMappedId": "Orphanet_36387", "variantHgvsId": "NC_000002.12:g.166199096C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal recessive inheritance"], "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001290125", "releaseDate": "2021-01-30", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23561485_T_A", "variantRsId": "rs2059038310", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23561485T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "Orphanet_257", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "diseaseFromSourceId": "C2931072", "diseaseFromSourceMappedId": "MONDO_0009181", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex, Ogna type", "diseaseFromSourceId": "C0432317", "diseaseFromSourceMappedId": "Orphanet_79401", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "MONDO_0012807", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex 5C, with pyloric atresia", "diseaseFromSourceId": "C2677349", "diseaseFromSourceMappedId": "Orphanet_158684", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "MONDO_0013390", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Q", "diseaseFromSourceId": "C3150989", "diseaseFromSourceMappedId": "Orphanet_254361", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001326640", "releaseDate": "2021-03-14", "targetFromSourceId": "ENSG00000178209", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_143923982_G_A", "variantRsId": "rs781814416", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Q", "EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE", "EPIDERMOLYSIS BULLOSA SIMPLEX 5D, WITH NAIL DYSTROPHY", "EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY", "Epidermolysa bullosa simplex and limb girdle muscular dystrophy", "Epidermolysis bullosa simplex 5B, with muscular dystrophy", "Epidermolysis bullosa simplex 5C, with pyloric atresia", "Epidermolysis bullosa simplex with muscular dystrophy", "Epidermolysis bullosa simplex with nail dystrophy", "Epidermolysis bullosa simplex with pyloric atresia", "Epidermolysis bullosa simplex, Ogna type", "Limb-girdle muscular dystrophy, type 2Q", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17", "PLEC-Related Epidermolysis Bullosa with Pyloric Atresia", "Pidermolysis bullosa simplex 5A, Ogna type"], "diseaseFromSource": "Epidermolysis bullosa simplex with nail dystrophy", "diseaseFromSourceId": "C4225309", "diseaseFromSourceMappedId": "MONDO_0014661", "variantHgvsId": "NC_000008.11:g.143923982G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "EFO_0009299", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001407801", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "15_48421574_G_A", "variantRsId": "rs758353830", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000015.10:g.48421574G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002179803", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000141458", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_23541169_C_T", "cohortPhenotypes": ["NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY", "NIEMANN-PICK DISEASE, VARIANT TYPE C1", "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "Niemann-Pick disease with cholesterol esterification block", "Niemann-Pick disease, chronic neuronopathic form", "Niemann-Pick disease, type C1"], "diseaseFromSource": "Niemann-Pick disease, type C1", "diseaseFromSourceId": "C3179455", "diseaseFromSourceMappedId": "MONDO_0018982", "variantHgvsId": "NC_000018.10:g.23541169C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002227702", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000100014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_24321519_C_G", "cohortPhenotypes": ["CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE", "HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS", "HYPERTELORISM-HYPOSPADIAS SYNDROME", "OPITZ BBB SYNDROME, TYPE II", "OPITZ BBBG SYNDROME, TYPE II", "OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II", "OPITZ-G SYNDROME, TYPE II", "Teebi hypertelorism syndrome 1"], "diseaseFromSource": "Teebi hypertelorism syndrome 1", "diseaseFromSourceId": "CN306405", "variantHgvsId": "NC_000022.11:g.24321519C>G"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002246062", "releaseDate": "2022-06-07", "targetFromSourceId": "ENSG00000166147", "variantFunctionalConsequenceId": "SO_0001906", "cohortPhenotypes": ["MARFAN SYNDROME, TYPE I", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, classic", "Marfan's syndrome"], "diseaseFromSource": "Marfan syndrome", "diseaseFromSourceId": "C0024796", "diseaseFromSourceMappedId": "MONDO_0007947", "variantHgvsId": "NC_000015.10:g.48428344_48428355del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "MONDO_0013692", "variantHgvsId": "NC_000003.12:g.52401645C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000353778", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000163930", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_52401645_C_T", "variantRsId": "rs374367093", "cohortPhenotypes": ["BAP1 tumor predisposition syndrome", "BAP1-related tumor predisposition syndrome", "Tumor predisposition syndrome", "Tumor susceptibility linked to germline BAP1 mutations"], "diseaseFromSource": "BAP1-related tumor predisposition syndrome", "diseaseFromSourceId": "C3280492", "diseaseFromSourceMappedId": "Orphanet_289539", "variantHgvsId": "NC_000003.12:g.52401645C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "MONDO_0014900", "variantHgvsId": "NC_000001.11:g.179914055G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000526798", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000143337", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "1_179914055_G_A", "variantRsId": "rs2274955", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2Y", "Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures", "Muscular dystrophy, limb-girdle, type 2y"], "diseaseFromSource": "Autosomal recessive limb-girdle muscular dystrophy type 2Y", "diseaseFromSourceId": "C4511482", "diseaseFromSourceMappedId": "EFO_0000310", "variantHgvsId": "NC_000001.11:g.179914055G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000687908", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000164362", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_1293861_C_T", "variantRsId": "rs773366454", "cohortPhenotypes": ["Dyskeratosis congenita, autosomal dominant 2", "Familial idiopathic pulmonary fibrosis", 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"clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000615626", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000145362", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "4_113358266_A_G", "variantRsId": "rs10013743", "cohortPhenotypes": ["ANKYRIN-B SYNDROME", "Cardiac arrhythmia, ankyrin-B-related"], "diseaseFromSource": "Cardiac arrhythmia, ankyrin-B-related", "diseaseFromSourceId": "C1970119", "variantHgvsId": "NC_000004.12:g.113358266A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002253853", "releaseDate": "2022-06-10", "targetFromSourceId": "ENSG00000154122", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "5_14751257_G_C", "cohortPhenotypes": ["Craniometaphyseal dysplasia Jackson type", "Craniometaphyseal dysplasia, autosomal dominant"], "diseaseFromSource": "Craniometaphyseal dysplasia, autosomal dominant", "diseaseFromSourceId": "C1852502", "diseaseFromSourceMappedId": "MONDO_0015465", "variantHgvsId": "NC_000005.10:g.14751257G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000043259", "releaseDate": "2013-05-04", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001575", "variantId": "16_2086872_G_T", "variantRsId": "rs45517386", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2086872G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "MONDO_0018614", "variantHgvsId": "NC_000005.10:g.45695795G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["24747641"], "studyId": "RCV000128459", "releaseDate": "2014-07-06", "targetFromSourceId": "ENSG00000164588", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_45695795_G_A", "variantRsId": "rs587777492", "cohortPhenotypes": ["Developmental and epileptic encephalopathy, 24", "Epileptic encephalopathy, early infantile, 24"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 24", "diseaseFromSourceId": "C4014531", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000005.10:g.45695795G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132529", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000095002", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47478436_A_G", "variantRsId": "rs587782891", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.47478436A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000163218", "releaseDate": "2015-03-24", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "22_28695212_A_G", "variantRsId": "rs373864492", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28695212A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000192441", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000164190", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "5_37060996_G_GTA", "variantRsId": "rs797045784", "cohortPhenotypes": ["Brachmann de Lange syndrome", "Cornelia de Lange syndrome 1", "Typus degenerativus amstelodamensis"], "diseaseFromSource": "Cornelia de Lange syndrome 1", "diseaseFromSourceId": "C4551851", "diseaseFromSourceMappedId": "MONDO_0016033", "variantHgvsId": "NC_000005.10:g.37060997TA[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000193627", "releaseDate": "2015-10-05", "targetFromSourceId": "ENSG00000171100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "X_150657853_C_CA", "variantRsId": "rs587783752", "cohortPhenotypes": ["MYOTUBULAR MYOPATHY 1", "Myotubular myopathy, X-linked", "Severe X-linked myotubular myopathy", "X-linked centronuclear myopathy"], "diseaseFromSource": "Severe X-linked myotubular myopathy", "diseaseFromSourceId": "C0410203", "diseaseFromSourceMappedId": "MONDO_0010683", "variantHgvsId": "NC_000023.11:g.150657856dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000219047", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214792384_G_A", "variantRsId": "rs876658571", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214792384G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000221614", "releaseDate": "2016-05-29", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "22_28711924_A_G", "variantRsId": "rs876659828", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000022.11:g.28711924A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000294299", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000189056", "variantFunctionalConsequenceId": "SO_0002165", "variantId": "7_103989356_T_TGCCGCCGCCGCCGCCGCCGCC", "variantRsId": "rs55656324", "cohortPhenotypes": ["Lissencephaly, Recessive"], "diseaseFromSource": "Lissencephaly, Recessive", "diseaseFromSourceId": "CN239458", "diseaseFromSourceMappedId": "EFO_0011063", "variantHgvsId": "NC_000007.14:g.103989359CGC[15]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "MONDO_0012984", "variantHgvsId": "NC_000020.11:g.25302331C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000337167", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100997", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "20_25302331_C_T", "variantRsId": "rs746748", "cohortPhenotypes": ["PHARC syndrome", "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract", "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"], "diseaseFromSource": "PHARC syndrome", "diseaseFromSourceId": "C2675204", "diseaseFromSourceMappedId": "Orphanet_171848", "variantHgvsId": "NC_000020.11:g.25302331C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "MONDO_0008050", "variantHgvsId": "NC_000014.9:g.23429785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000363434", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000092054", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "14_23429785_G_A", "variantRsId": "rs2231126", "cohortPhenotypes": ["Laing distal myopathy", "Laing early-onset distal myopathy", "MYH7-related skeletal myopathy", "MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT", "MYOPATHY, LATE DISTAL HEREDITARY", "Myopathy, distal, 1"], "diseaseFromSource": "MYH7-related skeletal myopathy", "diseaseFromSourceId": "C4552004", "diseaseFromSourceMappedId": "EFO_0004145", "variantHgvsId": "NC_000014.9:g.23429785G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000365593", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "14_95086682_T_C", "variantRsId": "rs765598296", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95086682T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "MONDO_0012549", "variantHgvsId": "NC_000006.12:g.152331354C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000366885", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000131018", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_152331354_C_T", "variantRsId": "rs139075013", "cohortPhenotypes": ["ATAXIA, RECESSIVE, OF BEAUCE", "Autosomal recessive ataxia, Beauce type", "SYNE1-Related Autosomal Recessive Cerebellar Ataxia", "Spinocerebellar ataxia, autosomal recessive 8"], "diseaseFromSource": "Autosomal recessive ataxia, Beauce type", "diseaseFromSourceId": "C1853116", "diseaseFromSourceMappedId": "Orphanet_88644", "variantHgvsId": "NC_000006.12:g.152331354C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000372271", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "16_2077592_C_T", "variantRsId": "rs528706539", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2077592C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000387283", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000073282", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "3_189894797_T_A", "variantRsId": "rs886058226", "cohortPhenotypes": ["TP63-Related Spectrum Disorders"], "diseaseFromSource": "TP63-Related Spectrum Disorders", "diseaseFromSourceId": "CN239305", "variantHgvsId": "NC_000003.12:g.189894797T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000475349", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[7]AAA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61847140G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000531200", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_61847140_G_A", "variantRsId": "rs758851721", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61847140G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000556753", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "14_95099771_C_CACACACACACACAA", "variantRsId": "rs763704682", "cohortPhenotypes": ["DICER1 syndrome", "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome"], "diseaseFromSource": "DICER1 syndrome", "diseaseFromSourceId": "C3839822", "diseaseFromSourceMappedId": "EFO_0009068", "variantHgvsId": "NC_000014.9:g.95099772AC[6]AAA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000571846", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000100697", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "14_95124382_C_T", "variantRsId": "rs1347290726", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000014.9:g.95124382C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "Orphanet_2637", "variantHgvsId": "NC_000021.9:g.46363881T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000608662", "releaseDate": "2018-04-09", "targetFromSourceId": "ENSG00000160299", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "21_46363881_T_C", "variantRsId": "rs8131546", "cohortPhenotypes": ["MOPD 2", "MOPD II", "Microcephalic osteodysplastic primordial dwarfism type 2", "Microcephalic osteodysplastic primordial dwarfism type II", "Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "Osteodysplastic primordial dwarfism type 2"], "diseaseFromSource": "Microcephalic osteodysplastic primordial dwarfism type II", "diseaseFromSourceId": "C0432246", "diseaseFromSourceMappedId": "MONDO_0008872", "variantHgvsId": "NC_000021.9:g.46363881T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000772538", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214780874_TAG_T", "variantRsId": "rs1482641121", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214780876_214780877del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000775105", "releaseDate": "2019-05-20", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "2_214745083_C_T", "variantRsId": "rs878854003", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214745083C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000808670", "releaseDate": "2019-08-14", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_61799278_GTTCTTTC_TAT", "variantRsId": "rs1603342339", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer 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"clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001013688", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780280_T_C", "variantRsId": "rs1603333030", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.61780280T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001023714", "releaseDate": "2020-03-16", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_214809519_C_A", "variantRsId": "rs864622419", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214809519C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001049625", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237445471_G_A", "variantRsId": "rs371121679", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic 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"variantHgvsId": "NC_000008.11:g.99467624C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001301713", "releaseDate": "2021-03-07", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_237614188_A_C", "variantRsId": "rs760479688", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237614188A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001358788", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000105976", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_116740007_C_T", "variantRsId": "rs771272439", "cohortPhenotypes": ["Renal cell carcinoma"], "diseaseFromSource": "Renal cell carcinoma", "diseaseFromSourceId": "C0007134", "diseaseFromSourceMappedId": "EFO_0000681", "variantHgvsId": "NC_000007.14:g.116740007C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001361224", "releaseDate": "2021-04-13", "targetFromSourceId": "ENSG00000144554", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_10049425_G_A", "cohortPhenotypes": ["Fanconi anemia", "Fanconi pancytopenia", "Fanconi's anemia"], "diseaseFromSource": "Fanconi anemia", "diseaseFromSourceId": "C0015625", "diseaseFromSourceMappedId": "MONDO_0019391", "variantHgvsId": "NC_000003.12:g.10049425G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001376273", "releaseDate": "2021-05-10", "targetFromSourceId": "ENSG00000163913", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129476757_G_A", "variantRsId": "rs150550701", "cohortPhenotypes": ["Rod-cone dystrophy"], "diseaseFromSource": "Rod-cone dystrophy", "diseaseFromSourceId": "C4551714", "diseaseFromSourceMappedId": "Orphanet_1872", "variantHgvsId": "NC_000003.12:g.129476757G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000001.11:g.43920904C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001498770", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000126091", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "1_43920904_C_T", "variantRsId": "rs149000966", 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"C0393706", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000002.12:g.165991430C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001926107", "releaseDate": "2022-06-16", "targetFromSourceId": "ENSG00000144285", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_165991430_C_A", "cohortPhenotypes": ["Developmental and epileptic encephalopathy", "Early infantile epileptic encephalopathy", "Early infantile epileptic encephalopathy with suppression bursts", "Ohtahara syndrome"], "diseaseFromSource": "Early infantile epileptic encephalopathy with suppression bursts", "diseaseFromSourceId": "C0393706", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000002.12:g.165991430C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", 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"diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000003.12:g.50366179G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002182174", "releaseDate": "2022-06-15", "targetFromSourceId": "ENSG00000198626", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "1_237806124_T_C", "cohortPhenotypes": ["Catecholamine-induced polymorphic ventricular tachycardia", "Catecholaminergic polymorphic ventricular tachycardia", "Familial polymorphic ventricular tachycardia", "Polymorphic catecholergic ventricular tachycardia"], "diseaseFromSource": "Catecholaminergic polymorphic ventricular tachycardia", "diseaseFromSourceId": "C1631597", "diseaseFromSourceMappedId": "MONDO_0017990", "variantHgvsId": "NC_000001.11:g.237806124T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244130", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000164692", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "7_94418537_CA_C", "cohortPhenotypes": ["EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT", "Ehlers-danlos syndrome, arthrochalasia type, 2"], "diseaseFromSource": "Ehlers-danlos syndrome, arthrochalasia type, 2", "diseaseFromSourceId": "CN293783", "diseaseFromSourceMappedId": "Orphanet_1899", "variantHgvsId": "NC_000007.14:g.94418538del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002244189", "releaseDate": "2022-05-27", "targetFromSourceId": "ENSG00000188994", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_87254902_C_T", "cohortPhenotypes": ["Intellectual developmental disorder, autosomal dominant 64", "MENTAL RETARDATION, AUTOSOMAL DOMINANT 64"], "diseaseFromSource": "Intellectual developmental disorder, autosomal dominant 64", "diseaseFromSourceId": "C5543067", "variantHgvsId": "NC_000006.12:g.87254902C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV002250420", "releaseDate": "2022-06-01", "targetFromSourceId": "ENSG00000135100", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "12_120999579_AGCATCCAGCACCT_GGCATCCAGCACC", "cohortPhenotypes": ["Monogenic diabetes"], "diseaseFromSource": "Monogenic diabetes", "diseaseFromSourceId": "C3888631", "diseaseFromSourceMappedId": "EFO_1001511", "variantHgvsId": "NC_000012.12:g.120999579_120999592delinsGGCATCCAGCACC"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000115638", "releaseDate": "2014-05-17", "targetFromSourceId": "ENSG00000138376", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "2_214781250_C_CT", "variantRsId": "rs587780033", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000002.12:g.214781257dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000226635", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000160957", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "8_144514533_T_C", "variantRsId": "rs373357384", "cohortPhenotypes": ["Baller-Gerold syndrome", "Craniosynostosis radial aplasia syndrome", "Craniosynostosis with radial defects"], "diseaseFromSource": "Baller-Gerold syndrome", "diseaseFromSourceId": "C0265308", "diseaseFromSourceMappedId": "MONDO_0009039", "variantHgvsId": "NC_000008.11:g.144514533T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000232400", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112843065_A_G", "variantRsId": "rs375674083", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", 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"clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002116314", "releaseDate": "2022-07-01", "targetFromSourceId": "ENSG00000198947", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "X_32343306_T_A", "cohortPhenotypes": ["Duchenne muscular dystrophy", "Muscular dystrophy, pseudohypertrophic progressive, Duchenne type"], "diseaseFromSource": "Duchenne muscular dystrophy", "diseaseFromSourceId": "C0013264", "diseaseFromSourceMappedId": "MONDO_0010679", "variantHgvsId": "NC_000023.11:g.32343306T>A"} +{"alleleOrigins": ["inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002259428", "releaseDate": "2022-07-01", "targetFromSourceId": "ENSG00000003393", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_201761647_C_T", "cohortPhenotypes": ["Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis", "Infantile-onset ascending hereditary spastic paralysis", "Spastic paralysis, infantile onset ascending"], "diseaseFromSource": "Infantile-onset ascending hereditary spastic paralysis", "diseaseFromSourceId": "C2931441", "diseaseFromSourceMappedId": "MONDO_0011797", "variantHgvsId": "NC_000002.12:g.201761647C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000386249", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000198707", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_88141254_C_T", "variantRsId": "rs886049885", "cohortPhenotypes": ["Bardet-Biedl syndrome 14"], "diseaseFromSource": "Bardet-Biedl syndrome 14", "diseaseFromSourceId": "C2673874", "diseaseFromSourceMappedId": "MONDO_0015229", "variantHgvsId": "NC_000012.12:g.88141254C>T"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000420510", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675076_T_G", "variantRsId": "rs1057519991", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000017.11:g.7675076T>G"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426641", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000100393", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_41169525_G_T", "variantRsId": "rs1057519889", "cohortPhenotypes": ["Carcinoma, squamous cell of head and neck", "Head and neck squamous cell carcinoma", "Squamous cell carcinoma of the head and neck", "Squamous cell carcinoma, head and neck, somatic"], "diseaseFromSource": "Squamous cell carcinoma of the head and neck", "diseaseFromSourceId": "C1168401", "diseaseFromSourceMappedId": "EFO_0000181", "variantHgvsId": "NC_000022.11:g.41169525G>T"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000429897", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674917_T_A", "variantRsId": "rs1057520007", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7674917T>A"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000432990", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674237_G_C", "variantRsId": "rs375874539", "cohortPhenotypes": ["Carcinoma of esophagus", "Esophageal carcinoma", "Oesophageal carcinoma"], "diseaseFromSource": "Carcinoma of esophagus", "diseaseFromSourceId": "C0152018", "diseaseFromSourceMappedId": "EFO_0002916", "variantHgvsId": "NC_000017.11:g.7674237G>C"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000442928", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000109670", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_152326136_C_T", "variantRsId": "rs1057519896", "cohortPhenotypes": ["Malignant neoplasm of body of uterus"], "diseaseFromSource": "Malignant neoplasm of body of uterus", "diseaseFromSourceId": "C0153574", "diseaseFromSourceMappedId": "EFO_0003859", "variantHgvsId": "NC_000004.12:g.152326136C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000629277", "releaseDate": "2018-05-28", "targetFromSourceId": "ENSG00000124721", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_38845575_A_T", "variantRsId": "rs943252271", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000006.12:g.38845575A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000862148", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000039139", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_13900398_A_G", "variantRsId": "rs140630779", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000005.10:g.13900398A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001062748", "releaseDate": "2020-04-15", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_136433223_G_A", "variantRsId": "rs536052523", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433223G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001406468", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000157856", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_26454671_A_G", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000002.12:g.26454671A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001458778", "releaseDate": "2021-06-08", "targetFromSourceId": "ENSG00000039139", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_13811719_G_A", "cohortPhenotypes": ["Ciliary dyskinesia", "Primary ciliary dyskinesia"], "diseaseFromSource": "Primary ciliary dyskinesia", "diseaseFromSourceId": "C0008780", "diseaseFromSourceMappedId": "MONDO_0016575", "variantHgvsId": "NC_000005.10:g.13811719G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "no assertion criteria provided", "studyId": "RCV001830443", "releaseDate": "2022-07-02", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_58206159_G_A", "variantRsId": "rs772719574", "cohortPhenotypes": ["MECKEL-GRUBER SYNDROME, TYPE 1", "Meckel syndrome, type 1"], "diseaseFromSource": "Meckel syndrome, type 1", "diseaseFromSourceId": "C3714506", "variantHgvsId": "NC_000017.11:g.58206159G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001908488", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000148384", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "9_136433249_C_CGTGTCCTGCAGACGA", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "Familial aplasia of the vermis", "Joubert syndrome", "Joubert-Boltshauser syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000009.12:g.136433250_136433251GT[2]CCTGCAGACGAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "releaseDate": "2022-07-02", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Joubert syndrome", "diseaseFromSourceId": "C0431399", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000017.11:g.58214379C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002046656", "releaseDate": "2022-07-02", "targetFromSourceId": "ENSG00000011143", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_58214379_C_A", "cohortPhenotypes": ["Agenesis of cerebellar vermis", "CEREBELLOPARENCHYMAL DISORDER IV", "Cerebellar vermis agenesis", "Cerebelloparenchymal disorder 4", "DYSENCEPHALIA SPLANCHNOCYSTICA", "Dysencephalia splachnocystica", "Familial aplasia of the vermis", "Gruber syndrome", "Joubert syndrome", "Joubert-Boltshauser syndrome", "Meckel-Gruber syndrome"], "diseaseFromSource": "Meckel-Gruber syndrome", "diseaseFromSourceId": "C0265215", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000017.11:g.58214379C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000303252", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000007314", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_63971780_C_T", "variantRsId": "rs778661227", "cohortPhenotypes": ["Hypokalemic periodic paralysis, type 2"], "diseaseFromSource": "Hypokalemic periodic paralysis, type 2", "diseaseFromSourceId": "C2750061", "diseaseFromSourceMappedId": "MONDO_0008223", "variantHgvsId": "NC_000017.11:g.63971780C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "Orphanet_2457", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000293484", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000084073", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "1_40281517_CTAAAGT_C", "variantRsId": "rs747563189", "cohortPhenotypes": ["Mandibuloacral dysostosis", "Mandibuloacral dysplasia"], "diseaseFromSource": "Mandibuloacral dysplasia", "diseaseFromSourceId": "C0432291", "diseaseFromSourceMappedId": "MONDO_0016584", "variantHgvsId": "NC_000001.11:g.40281518TAAAGT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000368442", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43201827_A_G", "variantRsId": "rs78930544", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type 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"Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43200603G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000667105", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000108784", "variantFunctionalConsequenceId": "SO_0001821", "variantId": "17_42536473_G_GGCC", "variantRsId": "rs1469781984", "cohortPhenotypes": ["MPS 3B", "MPS III B", "MUCOPOLYSACCHARIDOSIS, TYPE IIIB", "Mucopoly-saccharidosis type 3B", "Mucopolysaccharidosis type IIIB (Sanfilippo B)", "Mucopolysaccharidosis, MPS-III-B", "N-acetyl-alpha-d-glucosaminidase deficiency", "NAGLU DEFICIENCY", "Sanfilippo syndrome B"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-B", "diseaseFromSourceId": "C0086648", "diseaseFromSourceMappedId": "MONDO_0009656", "variantHgvsId": "NC_000017.11:g.42536474_42536475insCCG"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001162513", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000165102", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "8_43202160_G_A", "variantRsId": "rs760484403", "cohortPhenotypes": ["Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency", "MPS 3C", "MPS III C", "MUCOPOLYSACCHARIDOSIS, TYPE IIIC", "Mucopoly-saccharidosis type 3C", "Mucopolysaccharidosis type IIIC (Sanfilippo C)", "Mucopolysaccharidosis, MPS-III-C", "Sanfilippo syndrome C"], "diseaseFromSource": "Mucopolysaccharidosis, MPS-III-C", "diseaseFromSourceId": "C0086649", "diseaseFromSourceMappedId": "MONDO_0009657", "variantHgvsId": "NC_000008.11:g.43202160G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001798871", "releaseDate": "2022-07-08", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37004437_A_G", "variantRsId": "rs371667663", "cohortPhenotypes": ["Breast and/or ovarian cancer"], "diseaseFromSource": "Breast and/or ovarian cancer", "diseaseFromSourceId": "CN221562", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37004437A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001858687", "releaseDate": "2022-07-08", "targetFromSourceId": "ENSG00000135069", "variantFunctionalConsequenceId": "SO_0001787", "variantId": "9_78300667_G_A", "variantRsId": "rs372232840", "cohortPhenotypes": ["Neu-Laxova syndrome 2"], "diseaseFromSource": "Neu-Laxova syndrome 2", "diseaseFromSourceId": "C4015019", "diseaseFromSourceMappedId": "MONDO_0000179", "variantHgvsId": "NC_000009.12:g.78300667G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "literature": ["22305531", "24706016", "26545172", "8599356"], "studyId": "RCV000022881", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000165195", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "X_15321727_G_A", "variantRsId": "rs387906726", "cohortPhenotypes": ["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 20", "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4", "Multiple congenital anomalies-hypotonia-seizures syndrome 2"], "diseaseFromSource": "Multiple congenital anomalies-hypotonia-seizures syndrome 2", "diseaseFromSourceId": "C3275508", "diseaseFromSourceMappedId": "Orphanet_300496", "variantHgvsId": "NC_000023.11:g.15321727G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "literature": ["9562578"], "studyId": "RCV000035487", "releaseDate": "2013-05-03", "targetFromSourceId": "ENSG00000134571", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_47337729_A_AC", "variantRsId": "rs397515963", "cohortPhenotypes": ["Familial hypertrophic cardiomyopathy 4", "Hypertrophic cardiomyopathy 4"], "diseaseFromSource": "Hypertrophic cardiomyopathy 4", "diseaseFromSourceId": "C1861862", "diseaseFromSourceMappedId": "Orphanet_99739", "variantHgvsId": "NC_000011.10:g.47337730dup"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000115482", "releaseDate": "2014-05-17", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37007004_G_C", "variantRsId": "rs28930073", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000003.12:g.37007004G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297206", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000170289", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_86575814_G_C", "variantRsId": "rs142846289", "cohortPhenotypes": ["Juvenile onset macular degeneration", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1", "STGD", "Severe early-childhood-onset retinal dystrophy", "Stargardt disease 1", "Stargardt macular dystrophy"], "diseaseFromSource": "Severe early-childhood-onset retinal dystrophy", "diseaseFromSourceId": "C1855465", "diseaseFromSourceMappedId": "MONDO_0009549", "variantHgvsId": "NC_000008.11:g.86575814G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297206", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000170289", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "8_86575814_G_C", "variantRsId": "rs142846289", "cohortPhenotypes": ["Juvenile onset macular degeneration", "MACULAR DYSTROPHY WITH FLECKS, TYPE 1", "STGD", "Severe early-childhood-onset retinal dystrophy", "Stargardt disease 1", "Stargardt macular dystrophy"], "diseaseFromSource": "Severe early-childhood-onset retinal dystrophy", "diseaseFromSourceId": "C1855465", "diseaseFromSourceMappedId": "Orphanet_827", "variantHgvsId": "NC_000008.11:g.86575814G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000554112", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000146038", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_24178612_G_A", "variantRsId": "rs143313706", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 66", "Deafness, autosomal recessive 66", "Isolated neonatal sclerosing cholangitis", "Sclerosing cholangitis, neonatal"], "diseaseFromSource": "Autosomal recessive nonsyndromic hearing loss 66", "diseaseFromSourceId": "C1857750", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000006.12:g.24178612G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000554112", "releaseDate": "2017-12-26", "targetFromSourceId": "ENSG00000146038", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "6_24178612_G_A", "variantRsId": "rs143313706", "cohortPhenotypes": ["Autosomal recessive nonsyndromic hearing loss 66", "Deafness, autosomal recessive 66", "Isolated neonatal sclerosing cholangitis", "Sclerosing cholangitis, neonatal"], "diseaseFromSource": "Isolated neonatal sclerosing cholangitis", "diseaseFromSourceId": "C4479344", "diseaseFromSourceMappedId": "EFO_0004268", "variantHgvsId": "NC_000006.12:g.24178612G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000621747", "releaseDate": "2018-04-14", "targetFromSourceId": "ENSG00000134755", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_31086611_C_T", "variantRsId": "rs145560678", "cohortPhenotypes": ["Cardiovascular phenotype"], "diseaseFromSource": "Cardiovascular phenotype", "diseaseFromSourceId": "CN230736", "diseaseFromSourceMappedId": "HP_0001626", "variantHgvsId": "NC_000018.10:g.31086611C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000779383", "releaseDate": "2019-05-27", "targetFromSourceId": "ENSG00000163914", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_129533696_C_T", "variantRsId": "rs183318466", "cohortPhenotypes": ["Retinitis pigmentosa", "Tapetoretinal degeneration"], "diseaseFromSource": "Retinitis pigmentosa", "diseaseFromSourceId": "C0035334", "diseaseFromSourceMappedId": "MONDO_0019200", "variantHgvsId": "NC_000003.12:g.129533696C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000852500", "releaseDate": "2019-10-12", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178566906_C_T", "variantRsId": "rs72648206", "cohortPhenotypes": ["Cardiomyopathies", "Cardiomyopathy"], "diseaseFromSource": "Cardiomyopathy", "diseaseFromSourceId": "C0878544", "diseaseFromSourceMappedId": "EFO_0000318", "variantHgvsId": "NC_000002.12:g.178566906C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Episodic ataxia type 2", "diseaseFromSourceId": "C1720416", "diseaseFromSourceMappedId": "Orphanet_97", "variantHgvsId": "NC_000019.10:g.13259614C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 42", "diseaseFromSourceId": "C4310716", "diseaseFromSourceMappedId": "MONDO_0100062", "variantHgvsId": "NC_000019.10:g.13259614C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000887488", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000141837", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "19_13259614_C_T", "variantRsId": "rs371952826", "cohortPhenotypes": ["Acetazolamide-responsive episodic ataxia syndrome", "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia", "Ataxia, familial, paroxysmal", "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive", "Cerebellopathy, hereditary paroxysmal", "Developmental and epileptic encephalopathy, 42", "Epileptic encephalopathy, early infantile, 42", "Episodic ataxia type 2", "Episodic ataxia with nystagmus", "Nystagmus-associated episodic ataxia"], "diseaseFromSource": "Developmental and epileptic encephalopathy, 42", "diseaseFromSourceId": "C4310716", "diseaseFromSourceMappedId": "Orphanet_1934", "variantHgvsId": "NC_000019.10:g.13259614C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001129505", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178573906_A_C", "variantRsId": "rs202098308", "cohortPhenotypes": ["EDSTROM MYOPATHY", "Hereditary myopathy with early respiratory failure", "MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT", "Myopathy, distal, with early respiratory failure, autosomal dominant", "Myopathy, myofibrillar, 9, with early respiratory failure"], "diseaseFromSource": "Myopathy, myofibrillar, 9, with early respiratory failure", "diseaseFromSourceId": "C1863599", "diseaseFromSourceMappedId": "Orphanet_178464", "variantHgvsId": "NC_000002.12:g.178573906A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001133205", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "2_178764187_A_C", "variantRsId": "rs142460433", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal cardiomyopathy", "diseaseFromSourceId": "C2673677", "diseaseFromSourceMappedId": "MONDO_0012714", "variantHgvsId": "NC_000002.12:g.178764187A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001860109", "releaseDate": "2022-07-09", "targetFromSourceId": "ENSG00000116198", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_3847559_T_G", "variantRsId": "rs779086283", "cohortPhenotypes": ["Joubert syndrome 25"], "diseaseFromSource": "Joubert syndrome 25", "diseaseFromSourceId": "C4084842", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000001.11:g.3847559T>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "literature": ["1755842"], "studyId": "RCV000000579", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000066926", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "18_57559148_C_T", "variantRsId": "rs118204037", "cohortPhenotypes": ["Erythropoietic Protoporphyria, Autosomal Recessive", "Ferrochelatase deficiency", "Heme synthetase deficiency", "Protoporphyria, erythropoietic, 1"], "diseaseFromSource": "Protoporphyria, erythropoietic, 1", "diseaseFromSourceId": "C4692546", "diseaseFromSourceMappedId": "MONDO_0060729", "variantHgvsId": "NC_000018.10:g.57559148C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000344754", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000122863", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "10_72011189_G_A", "variantRsId": "rs115489836", "cohortPhenotypes": ["Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies", "Larsen syndrome", "Larsen syndrome, dominant type"], "diseaseFromSource": "Larsen syndrome", "diseaseFromSourceId": "C0175778", "diseaseFromSourceMappedId": "Orphanet_503", "variantHgvsId": "NC_000010.11:g.72011189G>A"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000422074", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7675209_A_C", "variantRsId": "rs1057519975", "cohortPhenotypes": ["Lung cancer, squamous cell, somatic", "Squamous cell carcinoma of lung", "Squamous cell lung carcinoma"], "diseaseFromSource": "Squamous cell lung carcinoma", "diseaseFromSourceId": "C0149782", "diseaseFromSourceMappedId": "EFO_0000708", "variantHgvsId": "NC_000017.11:g.7675209A>C"} +{"alleleOrigins": ["somatic"], "datasourceId": "eva_somatic", "datatypeId": "somatic_mutation", "allelicRequirements": ["Somatic mutation"], "clinicalSignificances": ["likely pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000426907", "releaseDate": "2017-03-08", "targetFromSourceId": "ENSG00000141510", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_7674241_G_A", "variantRsId": "rs28934573", "cohortPhenotypes": ["Uterine carcinosarcoma"], "diseaseFromSource": "Uterine carcinosarcoma", "diseaseFromSourceId": "C0280630", "diseaseFromSourceMappedId": "EFO_1000613", "variantHgvsId": "NC_000017.11:g.7674241G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000700548", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000198400", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_156868589_G_A", "variantRsId": "rs540751200", "cohortPhenotypes": ["FAMILIAL DYSAUTONOMIA, TYPE II", "Familial dysautonomia, type 2", "HSAN 4", "HSAN Type IV", "Hereditary Sensory and Autonomic Neuropathy Type IV", "Hereditary insensitivity to pain with anhidrosis", "Hereditary sensory and autonomic neuropathy 4", "Insensitivity to pain, congenital, with anhidrosis", "Neuropathy, congenital sensory, with anhidrosis"], "diseaseFromSource": "Hereditary insensitivity to pain with anhidrosis", "diseaseFromSourceId": "C0020074", "diseaseFromSourceMappedId": "MONDO_0009746", "variantHgvsId": "NC_000001.11:g.156868589G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002260995", "releaseDate": "2022-07-09", "targetFromSourceId": "ENSG00000132842", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_78129275_G_A", "variantRsId": "rs17192146", "cohortPhenotypes": ["Autoinflammatory syndrome"], "diseaseFromSource": "Autoinflammatory syndrome", "diseaseFromSourceId": "C3890737", "diseaseFromSourceMappedId": "MONDO_0019751", "variantHgvsId": "NC_000005.10:g.78129275G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000211653", "releaseDate": "2016-05-22", "targetFromSourceId": "ENSG00000130164", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_11113287_C_A", "variantRsId": "rs875989918", "cohortPhenotypes": ["Fredrickson type IIa hyperlipoproteinemia", "HYPER-LOW-DENSITY-LIPOPROTEINEMIA", "HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF", "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL", "Hyper-beta-lipoproteinemia", "Hypercholesterolemia, familial, 1", "Hyperlipoproteinemia Type II", "Hyperlipoproteinemia Type IIa", "Hyperlipoproteinemia type 2", "LDL RECEPTOR DISORDER"], "diseaseFromSource": "Hypercholesterolemia, familial, 1", "diseaseFromSourceId": "C0745103", "diseaseFromSourceMappedId": "EFO_0004911", "variantHgvsId": "NC_000019.10:g.11113287C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "MONDO_0009734", "variantHgvsId": "NC_000011.10:g.17404634G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000260467", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000006071", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_17404634_G_A", "variantRsId": "rs371089976", "cohortPhenotypes": ["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS", "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY", "Hyperinsulinemic hypoglycemia, familial, 1", "NESIDIOBLASTOSIS OF PANCREAS", "Persistent Hyperinsulinemia Hypoglycemia of Infancy", "Persistent hyperinsulinemic hypoglycemia of infancy"], "diseaseFromSource": "Hyperinsulinemic hypoglycemia, familial, 1", "diseaseFromSourceId": "C2931832", "diseaseFromSourceMappedId": "Orphanet_657", "variantHgvsId": "NC_000011.10:g.17404634G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "Orphanet_656", "variantHgvsId": "NC_000001.11:g.179575717G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000297548", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179575717_G_A", "variantRsId": "rs886045596", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179575717G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000318832", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "5_150053664_C_G", "variantRsId": "rs1058920", "cohortPhenotypes": ["Gliosis, familial progressive subcortical", "Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150053664C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000339422", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_103455224_T_C", "variantRsId": "rs202199079", "cohortPhenotypes": ["Short rib-polydactyly syndrome"], "diseaseFromSource": "Short rib-polydactyly syndrome", "diseaseFromSourceId": "C0036996", "diseaseFromSourceMappedId": "MONDO_0015461", "variantHgvsId": "NC_000011.10:g.103455224T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000566663", "releaseDate": "2018-01-01", "targetFromSourceId": "ENSG00000185920", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "9_95461925_G_A", "variantRsId": "rs771732591", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000009.12:g.95461925G>A"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "Orphanet_656", "variantHgvsId": "NC_000001.11:g.179557134A>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000669631", "releaseDate": "2018-08-05", "targetFromSourceId": "ENSG00000116218", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "1_179557134_A_T", "variantRsId": "rs779736229", "cohortPhenotypes": ["Nephrotic syndrome, idiopathic, steroid-resistant", "Nephrotic syndrome, steroid-resistant, autosomal recessive", "Nephrotic syndrome, type 2"], "diseaseFromSource": "Nephrotic syndrome, type 2", "diseaseFromSourceId": "C1868672", "diseaseFromSourceMappedId": "MONDO_0019006", "variantHgvsId": "NC_000001.11:g.179557134A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2R", "DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "Dilated cardiomyopathy 1F", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Muscular dystrophy, limb-girdle, type 2R", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_363543", "variantHgvsId": "NC_000002.12:g.219420949G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000696219", "releaseDate": "2018-10-10", "targetFromSourceId": "ENSG00000175084", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_219420949_G_A", "variantRsId": "rs1559353118", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2R", "DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Desmin related myopathy (former name)", "Desmin storage myopathy (former name)", "Desmin-related myofibrillar myopathy", "Desminopathy", "Dilated cardiomyopathy 1F", "MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY", "Muscular dystrophy, limb-girdle, type 2R", "Myofibrillar myopathy 1"], "diseaseFromSource": "Desmin-related myofibrillar myopathy", "diseaseFromSourceId": "C1832370", "diseaseFromSourceMappedId": "Orphanet_98909", "variantHgvsId": "NC_000002.12:g.219420949G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93270", "variantHgvsId": "NC_000011.10:g.103211834G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93271", "variantHgvsId": "NC_000011.10:g.103211834G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001107261", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000187240", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_103211834_G_A", "variantRsId": "rs368447956", "cohortPhenotypes": ["Asphyxiating thoracic dystrophy 3", "POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I", "Polydactyly with neonatal chondrodystrophy type 1", "Polydactyly with neonatal chondrodystrophy type III", "SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC", "SRPS type 1", "SRPS type 3", "Saldino-Noonan Syndrome", "Short rib polydactyly syndrome 2B", "Short rib-polydactyly syndrome type 3", "Short rib-polydactyly syndrome Saldino-Noonan type", "Short rib-polydactyly syndrome type 1", "Short-rib polydactyly syndrome type I", "Short-rib polydactyly syndrome type III", "Short-rib thoracic dysplasia 3 with or without polydactyly", "Verma Naumoff syndrome"], "diseaseFromSource": "Asphyxiating thoracic dystrophy 3", "diseaseFromSourceId": "C0036069", "diseaseFromSourceMappedId": "Orphanet_93269", "variantHgvsId": "NC_000011.10:g.103211834G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001155615", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000182578", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "5_150068323_G_A", "variantRsId": "rs1757872206", "cohortPhenotypes": ["Gliosis, familial progressive subcortical", "Hereditary diffuse leukoencephalopathy with spheroids", "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA", "Leukoencephalopathy with neuroaxonal spheroids, autosomal dominant"], "diseaseFromSource": "Hereditary diffuse leukoencephalopathy with spheroids", "diseaseFromSourceId": "C3711381", "diseaseFromSourceMappedId": "Orphanet_313808", "variantHgvsId": "NC_000005.10:g.150068323G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002256830", "releaseDate": "2022-06-30", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2086798_G_A", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2086798G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000268693", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000109132", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "4_41745613_G_A", "variantRsId": "rs186778106", "cohortPhenotypes": ["Neuroblastoma 2", "Neuroblastoma, susceptibility to, 2"], "diseaseFromSource": "Neuroblastoma, susceptibility to, 2", "diseaseFromSourceId": "C2751682", "diseaseFromSourceMappedId": "EFO_0000621", "variantHgvsId": "NC_000004.12:g.41745613G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000410484", "releaseDate": "2017-01-06", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "MONDO_0005835", "variantHgvsId": "NC_000003.12:g.37025958G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000410484", "releaseDate": "2017-01-06", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37025958_G_C", "variantRsId": "rs63750527", "cohortPhenotypes": ["COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2", "Colorectal cancer, hereditary nonpolyposis, type 2", "Hereditary non-polyposis colorectal cancer, type 2", "Lynch syndrome II", "MLH1-Related Lynch Syndrome"], "diseaseFromSource": "Colorectal cancer, hereditary nonpolyposis, type 2", "diseaseFromSourceId": "C1333991", "diseaseFromSourceMappedId": "Orphanet_144", "variantHgvsId": "NC_000003.12:g.37025958G>C"} +{"alleleOrigins": ["germline", "inherited"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000467266", "releaseDate": "2017-04-17", "targetFromSourceId": "ENSG00000196712", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "17_31201471_C_T", "variantRsId": "rs764079291", "cohortPhenotypes": ["NEUROFIBROMATOSIS, TYPE I", "NEUROFIBROMATOSIS, TYPE I, SOMATIC", "Neurofibromatosis, type 1", "Peripheral type neurofibromatosis", "Recklinghausen's disease", "Von Recklinghausen disease"], "diseaseFromSource": "Neurofibromatosis, type 1", "diseaseFromSourceId": "C0027831", "diseaseFromSourceMappedId": "MONDO_0018975", "variantHgvsId": "NC_000017.11:g.31201471C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000622503", "releaseDate": "2018-04-15", "targetFromSourceId": "ENSG00000185339", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "22_30614483_C_T", "variantRsId": "rs1456983114", "cohortPhenotypes": ["Inborn genetic diseases"], "diseaseFromSource": "Inborn genetic diseases", "diseaseFromSourceId": "C0950123", "diseaseFromSourceMappedId": "EFO_0000508", "variantHgvsId": "NC_000022.11:g.30614483C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "releaseDate": "2020-05-12", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000003.12:g.37020321G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001090209", "releaseDate": "2020-05-12", "targetFromSourceId": "ENSG00000076242", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_37020321_G_A", "variantRsId": "rs1553647926", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000003.12:g.37020321G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV000491359", "releaseDate": "2017-06-25", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001822", "variantId": "16_2088292_CCGGCTCCGCCACATCAAG_C", "variantRsId": "rs137854218", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000016.10:g.2088304_2088321del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["19015492"], "studyId": "RCV000006286", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000007314", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_63957460_A_G", "variantRsId": "rs80338956", "cohortPhenotypes": ["Eulenburg disease", "Myotonia congenita intermittens", "Paralysis periodica paramyotonica", "Paramyotonia congenita", "Paramyotonia congenita of Von Eulenburg", "Von Eulenburg paramyotonia congenita"], "diseaseFromSource": "Paramyotonia congenita of Von Eulenburg", "diseaseFromSourceId": "C0221055", "diseaseFromSourceMappedId": "MONDO_0008195", "variantHgvsId": "NC_000017.11:g.63957460A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000197612", "releaseDate": "2015-10-11", "targetFromSourceId": "ENSG00000183765", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "22_28725254_G_A", "variantRsId": "rs137853007", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000022.11:g.28725254G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000327439", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_42697752_C_T", "variantRsId": "rs432753", "cohortPhenotypes": ["Adult-onset foveomacular vitelliform dystrophy", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION", "Macular dystrophy, vitelliform, adult-onset"], "diseaseFromSource": "Adult-onset foveomacular vitelliform dystrophy", "diseaseFromSourceId": "C1842914", "diseaseFromSourceMappedId": "MONDO_0011979", "variantHgvsId": "NC_000006.12:g.42697752C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000327439", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "6_42697752_C_T", "variantRsId": "rs432753", "cohortPhenotypes": ["Adult-onset foveomacular vitelliform dystrophy", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET", "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION", "Macular dystrophy, vitelliform, adult-onset"], "diseaseFromSource": "Adult-onset foveomacular vitelliform dystrophy", "diseaseFromSourceId": "C1842914", "diseaseFromSourceMappedId": "Orphanet_99000", "variantHgvsId": "NC_000006.12:g.42697752C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000332126", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000112619", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "6_42722243_C_A", "variantRsId": "rs886061404", "cohortPhenotypes": ["Fundus albipunctatus", "Pigmentary retinal dystrophy"], "diseaseFromSource": "Pigmentary retinal dystrophy", "diseaseFromSourceId": "C0311338", "diseaseFromSourceMappedId": "MONDO_0009964", "variantHgvsId": "NC_000006.12:g.42722243C>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "Orphanet_2162", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000342781", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000064309", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "11_125958565_A_ATATATGTGTGTGTG", "variantRsId": "rs371911236", "cohortPhenotypes": ["ARHINENCEPHALY", "HOLOPROSENCEPHALY, FAMILIAL ALOBAR", "HPE, FAMILIAL", "Holoprosencephaly", "Holoprosencephaly sequence"], "diseaseFromSource": "Holoprosencephaly sequence", "diseaseFromSourceId": "C0079541", "diseaseFromSourceMappedId": "MONDO_0016296", "variantHgvsId": "NC_000011.10:g.125958566TA[2]TG[5]T[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV000077651", "releaseDate": "2013-12-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002169", "variantId": "13_32316408_C_T", "variantRsId": "rs398122721", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", 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"confidence": "no assertion criteria provided", "studyId": "RCV001730132", "releaseDate": "2021-10-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_58695260_G_A", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.58695260G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "no assertion criteria provided", "studyId": "RCV001730132", "releaseDate": "2021-10-16", "targetFromSourceId": "ENSG00000108384", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "17_58695260_G_A", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.58695260G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001867880", "releaseDate": "2022-04-23", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "13_32380118_T_C", "variantRsId": "rs1555288568", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian 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["9771712"], "studyId": "RCV000007018", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000043355", "variantFunctionalConsequenceId": "SO_0002165", "cohortPhenotypes": ["Holoprosencephaly 5"], "diseaseFromSource": "Holoprosencephaly 5", "diseaseFromSourceId": "C1864827", "diseaseFromSourceMappedId": "MONDO_0016296", "variantHgvsId": "LRG_1157:g.8694GCN[45]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "studyId": "RCV000029220", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000122335", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "6_158119166_GCTGA_G", "variantRsId": "rs772296795", "cohortPhenotypes": ["3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME", "3-METHYLGLUTACONIC ACIDURIA, TYPE VI", "3-methylglutaconic aciduria with deafness, encephalopathy, and 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"diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32326554AT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000031574", "releaseDate": "2013-04-04", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32326553_GAT_G", "variantRsId": "rs80359533", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32326554AT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["not provided"], "confidence": "no assertion provided", "studyId": "RCV000042883", "releaseDate": "2013-05-04", "targetFromSourceId": "ENSG00000103197", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "16_2070474_C_G", "variantRsId": "rs45517196", "cohortPhenotypes": ["Tuberous sclerosis", "Tuberous sclerosis syndrome"], "diseaseFromSource": "Tuberous sclerosis syndrome", "diseaseFromSourceId": "C0041341", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000016.10:g.2070474C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000044777", "releaseDate": "2013-07-03", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "13_32340219_C_A", "variantRsId": "rs80358815", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and 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"diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43091602G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000083218", "releaseDate": "2014-02-06", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43063350_T_C", "variantRsId": "rs80357501", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43063350T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000083218", "releaseDate": "2014-02-06", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43063350_T_C", "variantRsId": "rs80357501", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43063350T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000128550", "releaseDate": "2014-07-10", "targetFromSourceId": "ENSG00000068976", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_64753097_G_A", "variantRsId": "rs11231865", "cohortPhenotypes": ["GSD 5", "Glycogen storage disease type 5", "Glycogen storage disease, type V", "McArdle disease", "McArdle type glycogen storage disease", "Muscle glycogen phosphorylase deficiency", "Myophosphorylase deficiency"], "diseaseFromSource": "Glycogen storage disease, type V", "diseaseFromSourceId": "C0017924", "diseaseFromSourceMappedId": "MONDO_0009293", "variantHgvsId": "NC_000011.10:g.64753097G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000131401", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94445825_T_C", "variantRsId": "rs375630981", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000011.10:g.94445825T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000132542", "releaseDate": "2014-08-06", "targetFromSourceId": "ENSG00000116062", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_47800172_A_G", "variantRsId": "rs587782900", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor 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"NC_000002.12:g.47800172A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000163236", "releaseDate": "2015-03-24", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094604_T_C", "variantRsId": "rs757936216", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000017.11:g.43094604T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "no assertion criteria provided", "literature": ["26424145"], "studyId": "RCV000207049", "releaseDate": "2016-02-09", "targetFromSourceId": "ENSG00000085382", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "6_104771384_G_GAATACCTAAAAATACCTAAA", "cohortPhenotypes": ["Spastic paraplegia and psychomotor retardation with or without seizures", "Spastic paraplegia-severe developmental delay-epilepsy syndrome"], "diseaseFromSource": "Spastic paraplegia-severe developmental delay-epilepsy syndrome", "diseaseFromSourceId": "C4225215", "diseaseFromSourceMappedId": "MONDO_0014764", "variantHgvsId": "NC_000006.12:g.104771387TACCTAAAAA[3]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000227822", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780946_T_C", "variantRsId": "rs577768294", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Familial cancer of breast", "diseaseFromSourceId": "C0346153", "diseaseFromSourceMappedId": "Orphanet_227535", "variantHgvsId": "NC_000017.11:g.61780946T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000227822", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000136492", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_61780946_T_C", "variantRsId": "rs577768294", "cohortPhenotypes": ["Breast cancer, familial", "Familial cancer of breast", "Fanconi anemia complementation group J"], "diseaseFromSource": "Fanconi anemia complementation group J", "diseaseFromSourceId": "C1836860", "diseaseFromSourceMappedId": "MONDO_0012187", "variantHgvsId": "NC_000017.11:g.61780946T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000233397", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000149311", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "11_108329071_A_G", "variantRsId": "rs750569023", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108329071A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000233397", "releaseDate": "2016-07-01", "targetFromSourceId": "ENSG00000166323", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "11_108329071_A_G", "variantRsId": "rs750569023", "cohortPhenotypes": ["AT, COMPLEMENTATION GROUP C", "ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A", "ATAXIA-TELANGIECTASIA, FRESNO VARIANT", "Ataxia-telangiectasia", "Ataxia-telangiectasia syndrome", "Ataxia-telangiectasia, complementation group D", "Ataxia-telangiectasia, complementation group E", "Cerebello-oculocutaneous telangiectasia", "Immunodeficiency with ataxia telangiectasia", "Louis-Bar syndrome"], "diseaseFromSource": "Ataxia-telangiectasia syndrome", "diseaseFromSourceId": "C0004135", "diseaseFromSourceMappedId": "Orphanet_100", "variantHgvsId": "NC_000011.10:g.108329071A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "releaseDate": "2016-10-22", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "reviewed by expert panel", "studyId": "RCV000257799", "releaseDate": "2016-10-22", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "13_32333146_TTTAA_T", "variantRsId": "rs886040379", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32333149_32333152del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000258385", "releaseDate": "2016-11-06", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000013.11:g.32326153A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "allelicRequirements": ["Autosomal dominant inheritance"], "clinicalSignificances": ["conflicting interpretations of pathogenicity"], "confidence": "criteria provided, conflicting interpretations", "studyId": "RCV000258385", "releaseDate": "2016-11-06", "targetFromSourceId": "ENSG00000139618", "variantFunctionalConsequenceId": "SO_0002170", "variantId": "13_32326153_A_G", "variantRsId": "rs81002795", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "Breast cancer, familial 2", "Breast-ovarian cancer, familial 2", "Breast-ovarian cancer, familial, susceptibility to, 2"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 2", "diseaseFromSourceId": "C2675520", "diseaseFromSourceMappedId": "MONDO_0012933", "variantHgvsId": "NC_000013.11:g.32326153A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV000279393", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178633323_C_G", "variantRsId": "rs727505144", "cohortPhenotypes": ["Early-onset myopathy with fatal cardiomyopathy", "Salih Myopathy"], "diseaseFromSource": "Early-onset myopathy with fatal 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"RCV000339062", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000062038", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "16_68644701_T_C", "variantRsId": "rs150247850", "cohortPhenotypes": ["EEM syndrome", "Ectodermal dysplasia, ectrodactyly, and macular dystrophy"], "diseaseFromSource": "EEM syndrome", "diseaseFromSourceId": "C1857041", "diseaseFromSourceMappedId": "MONDO_0009155", "variantHgvsId": "NC_000016.10:g.68644701T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV000341229", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000155657", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_178568853_T_C", "variantRsId": "rs3813246", "cohortPhenotypes": ["Autosomal recessive limb-girdle muscular dystrophy type 2J", "Limb-girdle muscular dystrophy, type 2J", "MUSCULAR 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"Orphanet_263", "variantHgvsId": "NC_000002.12:g.178568853T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000341792", "releaseDate": "2016-12-06", "targetFromSourceId": "ENSG00000141255", "variantFunctionalConsequenceId": "SO_0001623", "variantId": "17_3513833_C_T", "variantRsId": "rs146188912", "cohortPhenotypes": ["Isolated focal non-epidermolytic palmoplantar keratoderma", "Palmoplantar keratoderma, nonepidermolytic, focal 2"], "diseaseFromSource": "Isolated focal non-epidermolytic palmoplantar keratoderma", "diseaseFromSourceId": "C4225339", "diseaseFromSourceMappedId": "Orphanet_2337", "variantHgvsId": "NC_000017.11:g.3513833C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": 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"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000865874", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000173575", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "15_93014810_C_T", "variantRsId": "rs144395162", "cohortPhenotypes": ["Developmental and epileptic encephalopathy 94", "Epileptic encephalopathy, childhood-onset"], "diseaseFromSource": "Developmental and epileptic encephalopathy 94", "diseaseFromSourceId": "C3809278", "diseaseFromSourceMappedId": "MONDO_0016025", "variantHgvsId": "NC_000015.10:g.93014810C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV000865874", "releaseDate": "2019-12-17", "targetFromSourceId": "ENSG00000173575", "variantFunctionalConsequenceId": "SO_0001583", 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"studyId": "RCV001077539", "releaseDate": "2020-04-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "17_43063956_A_C", "variantRsId": "rs775235695", "cohortPhenotypes": ["BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "Breast cancer, familial 1", "Breast-ovarian cancer, familial 1", "Breast-ovarian cancer, familial, susceptibility to, 1", "OVARIAN CANCER, SUSCEPTIBILITY TO"], "diseaseFromSource": "Breast-ovarian cancer, familial, susceptibility to, 1", "diseaseFromSourceId": "C2676676", "diseaseFromSourceMappedId": "MONDO_0011450", "variantHgvsId": "NC_000017.11:g.43063956A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, multiple submitters, no conflicts", "studyId": "RCV001079404", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000165699", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_132905803_G_A", "variantRsId": "rs775869914", "cohortPhenotypes": ["Tuberous sclerosis 1"], "diseaseFromSource": "Tuberous sclerosis 1", "diseaseFromSourceId": "C1854465", "diseaseFromSourceMappedId": "MONDO_0001734", "variantHgvsId": "NC_000009.12:g.132905803G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001080129", "releaseDate": "2020-05-04", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94420160_T_C", "variantRsId": "rs1805362", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94420160T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001114788", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000111199", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "12_109786742_C_G", "variantRsId": "rs138986228", "cohortPhenotypes": ["Dysmorphism arthrogryposis skeletal maturation advanced", "Jequier-Kozlowski syndrome", "SMD Kozlowski type", "Skeletal dysplasia Jequier-Kozlowski type", "Spondylometaphyseal dysplasia, Kozlowski type"], "diseaseFromSource": "Spondylometaphyseal dysplasia, Kozlowski type", "diseaseFromSourceId": "C0265280", "diseaseFromSourceMappedId": "MONDO_0008477", "variantHgvsId": "NC_000012.12:g.109786742C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001159488", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000106211", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "7_76302721_G_A", "variantRsId": "rs77586767", "cohortPhenotypes": ["HMN IIB", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB", "Neuronopathy, distal hereditary motor, type 2B"], "diseaseFromSource": "Neuronopathy, distal hereditary motor, type 2B", "diseaseFromSourceId": "C2608087", "variantHgvsId": "NC_000007.14:g.76302721G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001169346", "releaseDate": "2020-05-31", "targetFromSourceId": "ENSG00000106991", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_127815148_G_A", "variantRsId": "rs893984357", "cohortPhenotypes": ["Osler Weber Rendu syndrome type 1", "Telangiectasia, hereditary hemorrhagic, type 1"], "diseaseFromSource": "Telangiectasia, hereditary 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"datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001177962", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_30672180_C_G", "variantRsId": "rs1699353812", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30672180C>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001182919", "releaseDate": "2020-06-22", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838104_C_T", "variantRsId": "rs79512956", "cohortPhenotypes": ["Cancer predisposition", "Hereditary Cancer Syndrome", "Hereditary cancer-predisposing syndrome", "Neoplastic Syndromes, Hereditary", "Tumor predisposition"], "diseaseFromSource": "Hereditary cancer-predisposing syndrome", "diseaseFromSourceId": "C0027672", "diseaseFromSourceMappedId": "Orphanet_140162", "variantHgvsId": "NC_000005.10:g.112838104C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001204514", "releaseDate": "2020-07-16", "targetFromSourceId": "ENSG00000062822", "variantFunctionalConsequenceId": "SO_0001574", "variantId": "19_50416608_AG_A", "variantRsId": "rs756872503", "cohortPhenotypes": ["COLORECTAL CANCER, SUSCEPTIBILITY TO, ON 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"variantHgvsId": "NC_000017.11:g.43094543C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001338193", "releaseDate": "2021-03-22", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43094543_C_T", "variantRsId": "rs397507259", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094543C>T"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], 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"NC_000017.11:g.43094826A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV001394372", "releaseDate": "2021-05-16", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "17_43094826_A_G", "variantRsId": "rs1165432483", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "MONDO_0003582", "variantHgvsId": "NC_000017.11:g.43094826A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain 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"cohortPhenotypes": ["Enteritis, Granulomatous", "Inflammatory bowel disease 1", "Inflammatory bowel disease 1, Crohn disease"], "diseaseFromSource": "Inflammatory bowel disease 1", "diseaseFromSourceId": "CN260071", "diseaseFromSourceMappedId": "EFO_0000729", "variantHgvsId": "NC_000016.10:g.50710770C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["drug response"], "confidence": "reviewed by expert panel", "studyId": "RCV001787325", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134538", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "12_21178615_T_C", "variantRsId": "rs4149056", "cohortPhenotypes": ["simvastatin response - Toxicity"], "diseaseFromSource": "simvastatin response - Toxicity", "variantHgvsId": "NC_000012.12:g.21178615T>C"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Joubert syndrome 2", "diseaseFromSourceId": "C1842577", "diseaseFromSourceMappedId": "MONDO_0018772", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} +{"datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001787340", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000187049", "variantFunctionalConsequenceId": "SO_0001589", "variantId": "11_61393907_GCTAAC_G", "variantRsId": "rs1554972556", "cohortPhenotypes": ["Cerebellooculorenal syndrome 2", "Joubert syndrome 2", "MECKEL-GRUBER SYNDROME, TYPE 2", "MKS2-Related Meckel Syndrome", "Meckel syndrome, type 2"], "diseaseFromSource": "Meckel syndrome, type 2", "diseaseFromSourceId": "C1864148", "diseaseFromSourceMappedId": "MONDO_0018921", "variantHgvsId": "NC_000011.10:g.61393911_61393915del"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "Orphanet_5", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001824739", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000084754", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "2_26190873_GAC_G", "variantRsId": "rs886055861", "cohortPhenotypes": ["Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase", "LCHAD Deficiency", "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"], "diseaseFromSource": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "diseaseFromSourceId": "C3711645", "diseaseFromSourceMappedId": "MONDO_0012173", "variantHgvsId": "NC_000002.12:g.26190875CA[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000108961", "variantFunctionalConsequenceId": "SO_0001578", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001841185", "releaseDate": "2022-05-07", "targetFromSourceId": "ENSG00000125434", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "17_8289817_G_C", "variantRsId": "rs1990342112", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000017.11:g.8289817G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001843181", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000055118", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "7_150957496_A_C", "variantRsId": "rs372559632", "cohortPhenotypes": ["Cardiac arrhythmia"], "diseaseFromSource": "Cardiac arrhythmia", "diseaseFromSourceId": "C0003811", "diseaseFromSourceMappedId": "EFO_0004269", "variantHgvsId": "NC_000007.14:g.150957496A>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001851586", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000169247", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_149026872_G_A", "variantRsId": "rs80338933", "cohortPhenotypes": ["Toe walking"], "diseaseFromSource": "Toe walking", "diseaseFromSourceId": "C0427144", "diseaseFromSourceMappedId": "HP_0030051", "variantHgvsId": "NC_000005.10:g.149026872G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001851761", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000204217", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "2_202552774_G_A", "variantRsId": "rs137852749", "cohortPhenotypes": ["Primary pulmonary hypertension"], "diseaseFromSource": "Primary pulmonary hypertension", "diseaseFromSourceId": "C0152171", "diseaseFromSourceMappedId": "MONDO_0017147", "variantHgvsId": "NC_000002.12:g.202552774G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001852052", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000105711", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_35039684_G_A", "variantRsId": "rs77106213", "cohortPhenotypes": ["Brugada syndrome 5"], "diseaseFromSource": "Brugada syndrome 5", "diseaseFromSourceId": "C2748541", "diseaseFromSourceMappedId": "MONDO_0015263", "variantHgvsId": "NC_000019.10:g.35039684G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001931870", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000164073", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "4_127930737_G_T", "cohortPhenotypes": ["MFSD8-Related Neuronal Ceroid-Lipofuscinosis", "Neuronal ceroid lipofuscinosis 7"], "diseaseFromSource": "Neuronal ceroid lipofuscinosis 7", "diseaseFromSourceId": "C1838571", "diseaseFromSourceMappedId": "MONDO_0016295", "variantHgvsId": "NC_000004.12:g.127930737G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV001952312", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000169814", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "3_15641944_C_T", "cohortPhenotypes": ["BTD deficiency", "Biotin deficiency", "Biotinidase deficiency", "Late-onset biotin-responsive multiple carboxylase deficiency"], "diseaseFromSource": "Biotinidase deficiency", "diseaseFromSourceId": "C0220754", "diseaseFromSourceMappedId": "MONDO_0009665", "variantHgvsId": "NC_000003.12:g.15641944C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000145715", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "Orphanet_137667", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000134480", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "MONDO_0012016", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV001959159", "releaseDate": "2022-05-21", "targetFromSourceId": "ENSG00000145715", "variantFunctionalConsequenceId": "SO_0002162", "variantId": "5_87379766_A_ATGTGAACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC", "cohortPhenotypes": ["Capillary malformation-arteriovenous malformation", "Capillary malformation-arteriovenous malformation syndrome"], "diseaseFromSource": "Capillary malformation-arteriovenous malformation syndrome", "diseaseFromSourceId": "C1842180", "diseaseFromSourceMappedId": "MONDO_0012016", "variantHgvsId": "NC_000005.10:g.87379767_87379781TG[2]AACACTAATTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT[1]"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002010146", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000165731", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "10_43102592_G_C", "cohortPhenotypes": ["Multiple endocrine neoplasia, type 2"], "diseaseFromSource": "Multiple endocrine neoplasia, type 2", "diseaseFromSourceId": "C4048306", "diseaseFromSourceMappedId": "MONDO_0019003", "variantHgvsId": "NC_000010.11:g.43102592G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast ovarian cancer syndrome", "diseaseFromSourceId": "C0677776", "diseaseFromSourceMappedId": "Orphanet_145", "variantHgvsId": "NC_000017.11:g.43091455T>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002037142", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000012048", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "17_43091455_T_C", "cohortPhenotypes": ["Breast and ovarian cancer", "Hereditary breast and ovarian cancer", "Hereditary breast and ovarian cancer syndrome", "Hereditary breast and ovarian cancer syndrome (HBOC)", "Hereditary breast ovarian cancer syndrome"], "diseaseFromSource": "Hereditary breast 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"clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002078925", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000163513", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "3_30674146_C_T", "cohortPhenotypes": ["Familial thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysm and aortic dissection", "Thoracic aortic aneurysms and dissections"], "diseaseFromSource": "Familial thoracic aortic aneurysm and aortic dissection", "diseaseFromSourceId": "C4707243", "diseaseFromSourceMappedId": "Orphanet_285014", "variantHgvsId": "NC_000003.12:g.30674146C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000107796", "variantFunctionalConsequenceId": "SO_0001819", "variantId": "10_88938118_A_G", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002080160", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000138134", "variantFunctionalConsequenceId": "SO_0001627", "variantId": "10_88938118_A_G", "cohortPhenotypes": ["Aortic aneurysm, familial thoracic 6", "FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI"], "diseaseFromSource": "Aortic aneurysm, familial thoracic 6", "diseaseFromSourceId": "C2673186", "diseaseFromSourceMappedId": "MONDO_0019625", "variantHgvsId": "NC_000010.11:g.88938118A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["likely benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002230862", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000122512", "variantFunctionalConsequenceId": "SO_0001630", "variantId": "7_6004064_A_G", "variantRsId": "rs1060504837", "cohortPhenotypes": ["Hereditary nonpolyposis colorectal neoplasms"], "diseaseFromSource": "Hereditary nonpolyposis colorectal neoplasms", "diseaseFromSourceId": "C0009405", "diseaseFromSourceMappedId": "EFO_0009911", "variantHgvsId": "NC_000007.14:g.6004064A>G"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002232090", "releaseDate": "2022-05-28", "targetFromSourceId": "ENSG00000020922", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "11_94485928_T_A", "variantRsId": "rs748434421", "cohortPhenotypes": ["Ataxia-telangiectasia-like disorder"], "diseaseFromSource": "Ataxia-telangiectasia-like disorder", "diseaseFromSourceId": "C1858391", "diseaseFromSourceMappedId": "MONDO_0011457", "variantHgvsId": "NC_000011.10:g.94485928T>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002234807", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000160014", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "19_46608879_C_T", "variantRsId": "rs1599759441", "cohortPhenotypes": ["Long QT syndrome 1"], "diseaseFromSource": "Long QT syndrome 1", "diseaseFromSourceId": "C4551647", "diseaseFromSourceMappedId": "HP_0001657", "variantHgvsId": "NC_000019.10:g.46608879C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["pathogenic"], "confidence": "criteria provided, single submitter", "studyId": "RCV002241250", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001587", "variantId": "5_112839444_G_T", "variantRsId": "rs1765537897", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112839444G>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002241833", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001631", "variantId": "5_112707390_G_C", "variantRsId": "rs1750554761", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112707390G>C"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002242068", "releaseDate": "2022-06-18", "targetFromSourceId": "ENSG00000134982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "5_112838046_A_T", "variantRsId": "rs1765186281", "cohortPhenotypes": ["APC-Associated Polyposis Conditions", "FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED", "Familial adenomatous polyposis 1", "POLYPOSIS, ADENOMATOUS INTESTINAL"], "diseaseFromSource": "Familial adenomatous polyposis 1", "diseaseFromSourceId": "C2713442", "diseaseFromSourceMappedId": "Orphanet_733", "variantHgvsId": "NC_000005.10:g.112838046A>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002269974", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000130635", "variantFunctionalConsequenceId": "SO_0001624", "variantId": "9_134842317_C_T", "variantRsId": "rs12553247", "cohortPhenotypes": ["FIBROMUSCULAR DYSPLASIA, MULTIFOCAL"], "diseaseFromSource": "FIBROMUSCULAR DYSPLASIA, MULTIFOCAL", "diseaseFromSourceId": "C5543412", "variantHgvsId": "NC_000009.12:g.134842317C>T"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["uncertain significance"], "confidence": "criteria provided, single submitter", "studyId": "RCV002270594", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000107147", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_135784872_G_A", "variantRsId": "rs760000324", "cohortPhenotypes": ["Autosomal dominant nocturnal frontal lobe epilepsy 5", "CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS", "CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS", "Epilepsy, nocturnal frontal lobe, 5"], "diseaseFromSource": "Autosomal dominant nocturnal frontal lobe epilepsy 5", "diseaseFromSourceId": "C3554306", "diseaseFromSourceMappedId": "Orphanet_98784", "variantHgvsId": "NC_000009.12:g.135784872G>A"} +{"alleleOrigins": ["germline"], "datasourceId": "eva", "datatypeId": "genetic_association", "clinicalSignificances": ["benign"], "confidence": "criteria provided, single submitter", "studyId": "RCV002271124", "releaseDate": "2022-07-30", "targetFromSourceId": "ENSG00000041982", "variantFunctionalConsequenceId": "SO_0001583", "variantId": "9_115086089_C_T", "variantRsId": "rs61729478", "cohortPhenotypes": ["Autosomal dominant nonsyndromic hearing loss 56", "Deafness, autosomal dominant 56"], "diseaseFromSource": "Autosomal dominant nonsyndromic hearing loss 56", "diseaseFromSourceId": "C3810170", "diseaseFromSourceMappedId": "EFO_0001063", "variantHgvsId": "NC_000009.12:g.115086089C>T"} diff --git a/tests/output_generation/resources/expected_genetics_evidence_string.json b/tests/output_generation/resources/expected_genetics_evidence_string.json index 8245a994..fb307f3f 100644 --- a/tests/output_generation/resources/expected_genetics_evidence_string.json +++ b/tests/output_generation/resources/expected_genetics_evidence_string.json @@ -19,6 +19,7 @@ "15258582", "15322982" ], + "releaseDate": "2012-08-13", "studyId": "RCV000002127", "targetFromSourceId": "ENSG00000139988", "variantFunctionalConsequenceId": "SO_0001583", diff --git a/tests/output_generation/resources/expected_multiple_names_evidence_string.json b/tests/output_generation/resources/expected_multiple_names_evidence_string.json index a7a398f2..4c65a528 100644 --- a/tests/output_generation/resources/expected_multiple_names_evidence_string.json +++ b/tests/output_generation/resources/expected_multiple_names_evidence_string.json @@ -20,6 +20,7 @@ "diseaseFromSource": "Skeletal dysplasia", "diseaseFromSourceId": "C0410528", "diseaseFromSourceMappedId": "HP_0002652", + "releaseDate": "2017-01-12", "studyId": "RCV000415158", "targetFromSourceId": "ENSG00000139988", "variantFunctionalConsequenceId": "SO_0001583", diff --git a/tests/output_generation/resources/expected_somatic_evidence_string.json b/tests/output_generation/resources/expected_somatic_evidence_string.json index 8dee46cf..37c1bac3 100644 --- a/tests/output_generation/resources/expected_somatic_evidence_string.json +++ b/tests/output_generation/resources/expected_somatic_evidence_string.json @@ -19,6 +19,7 @@ "15258582", "15322982" ], + "releaseDate": "2012-08-13", "studyId": "RCV000002127", "targetFromSourceId": "ENSG00000139988", "variantFunctionalConsequenceId": "SO_0001583", diff --git a/tests/output_generation/test_clinvar_to_evidence_strings.py b/tests/output_generation/test_clinvar_to_evidence_strings.py index 52f126fb..62946d48 100644 --- a/tests/output_generation/test_clinvar_to_evidence_strings.py +++ b/tests/output_generation/test_clinvar_to_evidence_strings.py @@ -1,5 +1,7 @@ import json import os +import re + import requests import xml.etree.ElementTree as ElementTree