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 ADGRV1 gene ADGRV1 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher Syndrome, Type 2C;Orphanet:231178;OMIM:605472 14740321;26432996;25743181;25572244;14740321;25743181;25572244;23035094;25406310;17295842;16775142 False 3 100;0;0 0.66 True ENSG00000164199 ENSG00000164199 HGNC:17416 ALMS1 gene ALMS1 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome;ORPHA64;OMIM:203800 11941369;27523285;11941369;16000322;21071598;11941370 False 3 100;0;0 0.66 True ENSG00000116127 ENSG00000116127 HGNC:428 ATF6 gene ATF6 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Achromatopsia 26063662;26029869 False 3 100;0;0 0.66 False ENSG00000118217 ENSG00000118217 HGNC:791 BAG3 gene BAG3 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown myofibrillar myopathy 6;ORPHA593; OMIM 612954 19085932;20605452;25208129;25728519;26545904;27443559;22734908;16936253;19085932;16936253;20884878 False 3 100;0;0 0.66 False ENSG00000151929 ENSG00000151929 HGNC:939 C1QB gene C1QB ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to an early component of complement deficiency; ORPHA169147; OMIM 613652 9476130;17513176;2894352;23651859;24160257;25454803;17513176;24160257;12133956 False 3 100;0;0 0.66 False ENSG00000173369 ENSG00000173369 HGNC:1242 CD3E gene CD3E ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 18;ORPHA183660; OMIM 615615 8490660;15546002;24515816;1828760;1370449;24515816;15546002;7937778 False 3 100;0;0 0.66 False ENSG00000198851 ENSG00000198851 HGNC:1674 CDH23 gene CDH23 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher Syndrome, Type 1;OrphaNet 231169;OMIM 276900 11090341;12075507;11090341;12407180;20513143;11750125;21689626 False 3 100;0;0 0.66 False ENSG00000107736 ENSG00000107736 HGNC:13733 CEP78 gene CEP78 ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Cone-Rod Dystrophy and Hearing Loss;CRDHL;OMIM:617236 28005958;27588451;27588452;27627988 False 3 0;0;0 0.66 False ENSG00000148019 ENSG00000148019 HGNC:25740 DICER1 gene DICER1 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pleuropulmonary Blastoma;ORPHA64742;OMIM 601200 19556464;22180160;25118636;19556464;16452165 False 3 100;0;0 0.66 False ENSG00000100697 ENSG00000100697 HGNC:17098 DNMT1 gene DNMT1 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DNMT1 Methylopathy;ORPHA314404;OMIM 604121;autosomal dominant cerebellar ataxia, deafness and narcolepsy 22328086;23904686;24727570;25678562;22328086;27602171;21532572;23521649;23365052;21532572;25033457 False 3 100;0;0 0.66 False ENSG00000130816 ENSG00000130816 HGNC:2976 FGFR3 gene FGFR3 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achondroplasia;ORPHA15; OMIM 100800 8078586;7913883;9811582;10200283 False 3 100;0;0 0.66 False ENSG00000068078 ENSG00000068078 HGNC:3690 LRTOMT gene LRTOMT ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss;OrphaNet: ORPHA90636;OMIM:611451 18953341;18794526;21739586;18953341;18794526;21739586;23053991;18794526;18953341;18794526 False 3 0;0;0 0.66 False ENSG00000184154 ENSG00000184154 HGNC:25033 NGLY1 gene NGLY1 ClinGen;Expert Review Green;Other ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Alacrimia-choreoathetosis-liver dysfunction syndrome;OrphaNet: ORPHA404454;OMIM:615273 22581936;25220016;24651605;26350515;25707956;25900930;25605922 False 3 0;0;0 0.66 False ENSG00000151092 ENSG00000151092 HGNC:17646 OTOF gene OTOF ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Sensorineural Hearing Loss (Auditory Neuropathy);OrphaNet 90636;OMIM 601071 10192385;12127154;24135434;11483641;17055430;19417007 False 3 0;0;0 0.66 False ENSG00000115155 ENSG00000115155 HGNC:8515 PALB2 gene PALB2 ClinGen;Expert Review Green ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast cancer;OrphaNet ORPHA227535;OMIM114480 17287723;21285249;24136930;25225577;19383810;25959805;16793542;23657012 False 3 0;0;0 0.66 False ENSG00000083093 ENSG00000083093 HGNC:26144 PCDH15 gene PCDH15 ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 1F;OrphaNet ORPHA231169;OMIM602083 11398101;11487575;15928608;11138007;16260500;15634702 False 3 0;0;0 0.66 False ENSG00000150275 ENSG00000150275 HGNC:14674 RIPOR2 gene RIPOR2 ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal autosomal recessive nonsyndromic deafness 104 24958875;27269051 False 3 0;0;0 0.66 False ENSG00000111913 ENSG00000111913 HGNC:13872 RPS10 gene RPS10 ClinGen;Expert Review Green ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia;OrphaNet ORPHA124; OMIM 613308 20116044;25946618;22510774;22939629;22863883 False 3 0;0;0 0.66 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS24 gene RPS24 ClinGen;Expert Review Green ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia;OrphaNet ORPHA124; OMIM 610629 19773262;23812780;25946618;17186470;18230666;22939629 False 3 0;0;0 0.66 False ENSG00000138326 ENSG00000138326 HGNC:10411 SKI gene SKI ClinGen;Expert Review Green ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome;OrphaNet ORPHA2462;OMIM182212 23103230;23023332 False 3 0;0;0 0.66 False ENSG00000157933 ENSG00000157933 HGNC:10896 SMAD3 gene SMAD3 ClinGen;Expert Review Green ClinGen Gene Validity Curations MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aneurysm-osteoarthritis syndrome;OrphaNet ORPHA284984;OMIM 613795 21217753;21778426;22167769;17589920;23782924;11285272 False 3 0;0;0 0.66 False ENSG00000166949 ENSG00000166949 HGNC:6769 TMC1 gene TMC1 ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss;OrphaNet ORPHA90636; OMIM600974 11850618;18616530;25114259;16627570;26157030;22105175 False 3 0;0;0 0.66 False ENSG00000165091 ENSG00000165091 HGNC:16513 USH1C gene USH1C ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher Syndrome, Type 1;OrphaNet ORPHA231169;OMIM276904 10973247;10973248;11239869;21203349 False 3 0;0;0 0.66 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher Syndrome, Type 1;OrphaNet ORPHA231169;OMIM606943 11941484;12588794;27583663;25798947;24608321;17923142;26936824;22381527;21436032 False 3 0;0;0 0.66 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 2;OrphaNet ORPHA231178;OMIM276901 9624053;25211151;20497194;16301217;22004887;17360538;19959642;26401052 False 3 0;0;0 0.66 False ENSG00000042781 ENSG00000042781 HGNC:12601 WHRN gene WHRN ClinGen;Expert Review Green ClinGen Gene Validity Curations BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 2D 17171570;21738389;22147658;26338283;12833159;16434480;20502675;12833159;20502675;28254438;27117407 False 3 0;0;0 0.66 False ENSG00000095397 ENSG00000095397 HGNC:16361