Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADCY1 gene ADCY1 ClinGen;Expert Review Red ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal autosomal recessive nonsyndromic deafness 44 24482543 False 1 0;0;0 0.64 False ENSG00000164742 ENSG00000164742 HGNC:232 AGTR2 gene AGTR2 ClinGen;Expert Review Red;Other ClinGen Gene Validity Curations X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked non-syndromic intellectual disability;Orphanet:777 22269148;12089445;19501643;18335189 False 1 0;0;100 0.64 True ENSG00000180772 ENSG00000180772 HGNC:338 AKAP9 gene AKAP9 ClinGen;Expert Review Red;Other ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long Qt Syndrome 11;OMIM:611820;Orphanet:101016 18093912;11799244 False 1 0;0;100 0.64 True ENSG00000127914 ENSG00000127914 HGNC:379 CHD1L gene CHD1L ClinGen;Expert Review Red;Other ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal or urinary tract malformation (CAKUT);ORPHA93545 24429398;22146311 False 1 0;0;100 0.64 False ENSG00000131778 ENSG00000131778 HGNC:1916 CRYM gene CRYM ClinGen;Expert Review Red ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant nonsyndromic deafness 40 12471561;18448257;24676347;26915689;16740909;17264173 False 1 0;0;0 0.64 False ENSG00000103316 ENSG00000103316 HGNC:2418 MYO9A gene MYO9A ClinGen;Expert Review Red;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Arthrogryposis;OrphaNet: ORPHA109007 26752647;9819351;10409426;22305756 False 1 0;0;0 0.64 False ENSG00000066933 ENSG00000066933 HGNC:7608 NHP2 gene NHP2 ClinGen;Expert Review Red ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Dyskeratosis Congenita;OrphaNet ORPHA1775; OMIM 613987 18523010;20008900;25467444;11160879 False 1 0;0;0 0.64 False ENSG00000145912 ENSG00000145912 HGNC:14377 PSD3 gene PSD3 ClinGen;Expert Review Red ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Antecubital pterygium syndrome 26752647 False 1 0;0;0 0.64 False ENSG00000156011 ENSG00000156011 HGNC:19093 RAD51D gene RAD51D ClinGen;Expert Review Red ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast cancer;OrphaNet ORPHA227535;OMIM 614291 25445424;21822267;22652533;22415235;10749867;17942895;15781618 False 1 0;0;0 0.64 False ENSG00000185379 ENSG00000185379 HGNC:9823 SCN4B gene SCN4B ClinGen;Expert Review Red ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT Syndrome;OrphaNet ORPHA768;OMIM 611819 17592081 False 1 0;0;0 0.64 False ENSG00000177098 ENSG00000177098 HGNC:10592 TMPO gene TMPO ClinGen;Expert Review Red ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy 16247757 False 1 0;0;0 0.64 False ENSG00000120802 ENSG00000120802 HGNC:11875 VPS8 gene VPS8 ClinGen;Expert Review Red ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Arthrogryposis;OrphaNet ORPHA1037; OMIM108120 26752647;8969229;23840658 False 1 0;0;0 0.64 False ENSG00000156931 ENSG00000156931 HGNC:29122