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 ANKRD1 gene ANKRD1 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 30681346 False 1 0;0;100 1.0 True ENSG00000148677 ENSG00000148677 HGNC:15819 C1QBP gene C1QBP Expert list;Expert Review Red Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM#617713 Hypertrophic cardiomyopathy;HP:0001639 28942965 False 1 100;0;0 1.0 True ENSG00000108561 ENSG00000108561 HGNC:1243 CALR3 gene CALR3 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 29988065 False 1 0;0;100 1.0 True ENSG00000269058 ENSG00000269058 HGNC:20407 CAV3 gene CAV3 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, familial hypertrophic, MIM# 192600" Hypertrophic cardiomyopathy;HP:0001639 14672715;27483260;12138167 False 1 0;0;100 1.0 True ENSG00000182533 ENSG00000182533 HGNC:1529 CORIN gene CORIN Expert list;Expert Review Red Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Hypertrophic cardiomyopathy;HP:0001639 37913506;15637153 False 1 0;0;100 1.0 True ENSG00000145244 ENSG00000145244 HGNC:19012 DNAJB4 gene DNAJB4 Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, DNAJB4-related Hypertrophic cardiomyopathy;HP:0001639 PMID: 36264506 False 1 0;0;100 1.0 True ENSG00000162616 ENSG00000162616 HGNC:14886 FXN gene FXN Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia MIM#229300 Hypertrophic cardiomyopathy;HP:0001639 False 1 0;0;100 1.0 True ENSG00000165060 ENSG00000165060 HGNC:3951 GAA gene GAA Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, MIM#232300 Hypertrophic cardiomyopathy;HP:0001639 27142047 False 1 0;0;100 1.0 True ENSG00000171298 ENSG00000171298 HGNC:4065 KLF10 gene KLF10 Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HCM Hypertrophic cardiomyopathy;HP:0001639 PMID: 22234868 False 1 0;0;100 1.0 True ENSG00000155090 ENSG00000155090 HGNC:11810 MYH6 gene MYH6 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 30681346 False 1 0;0;100 1.0 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYLK2 gene MYLK2 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders Other Cardiomyopathy, hypertrophic, 1, digenic, 192600 Hypertrophic cardiomyopathy;HP:0001639 11733062;24082139;25825456;20301725;30681346 False 1 0;0;100 1.0 True Other ENSG00000101306 ENSG00000101306 HGNC:16243 MYOM1 gene MYOM1 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Hypertrophic cardiomyopathy;HP:0001639 27600940;26656175;21256114 False 1 0;50;50 1.0 True ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 16 MIM#613838 Hypertrophic cardiomyopathy;HP:0001639 17347475;18591919;28296734;30681346;22987565 False 1 0;0;100 1.0 True ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, hypertrophic, 22 (MIM# 615248)" Hypertrophic cardiomyopathy;HP:0001639 30681346;20801532;22286171 False 1 0;0;100 1.0 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEXN gene NEXN Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 20, MIM# 613876 Hypertrophic cardiomyopathy;HP:0001639 20970104;30681346 False 1 0;0;100 1.0 True ENSG00000162614 ENSG00000162614 HGNC:29557 OBSCN gene OBSCN Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 30681346;26573135;17716621;25173926;28630914;33438037 False 1 0;0;100 1.0 True ENSG00000154358 ENSG00000154358 HGNC:15719 PDLIM3 gene PDLIM3 Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 30681346;26455666;20801532 False 1 0;0;100 1.0 True ENSG00000154553 ENSG00000154553 HGNC:20767 RYR2 gene RYR2 Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 30681346;26573135;22515980;26656175;30835254 False 1 0;100;0 1.0 True ENSG00000198626 ENSG00000198626 HGNC:10484 SLC25A4 gene SLC25A4 Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 Hypertrophic cardiomyopathy;HP:0001639 16155110 False 1 0;0;100 1.0 True ENSG00000151729 ENSG00000151729 HGNC:10990 TCAP gene TCAP Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 25, MIM# 607487" Hypertrophic cardiomyopathy;HP:0001639 16352453;15582318;30681346 False 1 0;0;100 1.0 True ENSG00000173991 ENSG00000173991 HGNC:11610 UQCRFS1 gene UQCRFS1 Expert Review Red;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Complex III deficiency;lactic acidosis;fetal bradycardia;hypertrophic cardiomyopathy;alopecia totalis Hypertrophic cardiomyopathy;HP:0001639 31883641 False 1 100;0;0 1.0 True ENSG00000169021 ENSG00000169021 HGNC:12587 VCL gene VCL Expert Review Red;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 15, MIM# 613255 Hypertrophic cardiomyopathy;HP:0001639 17097056;30681346 False 1 0;0;100 1.0 True ENSG00000035403 ENSG00000035403 HGNC:12665