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 ABCC9 gene ABCC9 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000069431 ENSG00000069431 HGNC:60 AKAP9 gene AKAP9 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown long QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 1 0;0;100 4.5 True ENSG00000127914 ENSG00000127914 HGNC:379 ALG10B gene ALG10B ClinGen;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted long QT syndrome MONDO:0002442 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 37071726 False 1 0;0;100 4.5 False ENSG00000175548 ENSG00000175548 HGNC:31088 ANK2 gene ANK2 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 4, MIM# 600919" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 1 0;0;100 4.5 True ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD1 gene ANKRD1 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 1 0;0;100 4.5 True ENSG00000148677 ENSG00000148677 HGNC:15819 ANKRD1 gene ANKRD1 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 19608030;19525294 False 1 0;0;100 4.5 True ENSG00000148677 ENSG00000148677 HGNC:15819 BMP10 gene BMP10 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 36673052 False 1 0;0;100 4.5 True ENSG00000163217 ENSG00000163217 HGNC:20869 BVES gene BVES Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26642364;31119192 False 1 0;100;0 4.5 True ENSG00000112276 ENSG00000112276 HGNC:1152 C1QBP gene C1QBP Expert Review Red;Expert list Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM#617713 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 28942965 False 1 100;0;0 4.5 True ENSG00000108561 ENSG00000108561 HGNC:1243 CACNA1C gene CACNA1C Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 34557911 False 1 0;0;100 4.5 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA2D1 gene CACNA2D1 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Brugada syndrome 1, MONDO:0011001 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNA2D1 gene CACNA2D1 Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 34557911 False 1 0;0;100 4.5 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 34557911 False 1 0;0;100 4.5 True ENSG00000165995 ENSG00000165995 HGNC:1402 CACNB2 gene CACNB2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000165995 ENSG00000165995 HGNC:1402 CALR3 gene CALR3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29988065 False 1 0;0;100 4.5 True ENSG00000269058 ENSG00000269058 HGNC:20407 CASQ2 gene CASQ2 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000118729 ENSG00000118729 HGNC:1513 CAV3 gene CAV3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, familial hypertrophic, MIM# 192600" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 14672715;27483260;12138167 False 1 0;0;100 4.5 True ENSG00000182533 ENSG00000182533 HGNC:1529 CDH2 gene CDH2 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 28280076;15662031 False 1 0;0;100 4.5 True ENSG00000170558 ENSG00000170558 HGNC:1759 CHRM2 gene CHRM2 Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 23743182;18451336 False 1 0;0;100 4.5 True ENSG00000181072 ENSG00000181072 HGNC:1951 CORIN gene CORIN Expert Review Red;Expert list Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 37913506;15637153 False 1 0;0;100 4.5 True ENSG00000145244 ENSG00000145244 HGNC:19012 CORIN gene CORIN Expert Review Red;Expert list Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 37913506;15637153 False 1 0;0;100 4.5 True ENSG00000145244 ENSG00000145244 HGNC:19012 CRYAB gene CRYAB Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1II, MIM#615184 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 16793013;16483541;23590293;29253866 False 1 0;0;100 4.5 True ENSG00000109846 ENSG00000109846 HGNC:2389 CSRP3 gene CSRP3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1M MIM#607482 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 12507422;14567970;19412328 False 1 0;0;100 4.5 True ENSG00000129170 ENSG00000129170 HGNC:2472 DNAJB4 gene DNAJB4 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, DNAJB4-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 36264506 False 1 0;0;100 4.5 True ENSG00000162616 ENSG00000162616 HGNC:14886 DSC2 gene DSC2 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 21859740 False 1 0;100;0 4.5 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSP gene DSP Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000096696 ENSG00000096696 HGNC:3052 ETS1 gene ETS1 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial dilated cardiomyopathy, MONDO:0016333, ETS1-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 40870883 False 1 0;0;100 4.5 True ENSG00000134954 ENSG00000134954 HGNC:3488 FGF12 gene FGF12 ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 False ENSG00000114279 ENSG00000114279 HGNC:3668 GAA gene GAA Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, MIM#232300 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27142047 False 1 0;0;100 4.5 True ENSG00000171298 ENSG00000171298 HGNC:4065 GNB2 gene GNB2 Literature;Expert Review Red;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 4, MIM# 619464 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 28219978 False 1 0;0;100 4.5 False ENSG00000172354 ENSG00000172354 HGNC:4398 GPD1L gene GPD1L Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 2, MIM# 611777 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17967977;19666841;29959160 False 1 0;50;50 4.5 True ENSG00000152642 ENSG00000152642 HGNC:28956 HCN4 gene HCN4 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000138622 ENSG00000138622 HGNC:16882 HSPB6 gene HSPB6 Literature;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy, MONDO:0005021, HSPB6-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29157081 False 1 0;0;100 4.5 False ENSG00000004776 ENSG00000004776 HGNC:26511 ILK gene ILK Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17646580;27886618;25163546 False 1 0;100;0 4.5 True ENSG00000166333 ENSG00000166333 HGNC:6040 KCND3 gene KCND3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Brugada syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE2 gene KCNE2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240;28794082 False 1 0;50;50 4.5 True ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000176076 ENSG00000176076 HGNC:6241 KCNE5 gene KCNE5 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Atrial fibrillation Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 18313602;16054468;30289750 False 1 0;0;100 4.5 True ENSG00000176076 ENSG00000176076 HGNC:6241 KCNH2 gene KCNH2 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31020160, 22589293, 26322597 False 1 0;50;50 4.5 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 13, MIM# 613485" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 1 0;0;100 4.5 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Brugada syndrome 1, MONDO:0011001 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000121361 ENSG00000121361 HGNC:6269 KCNQ1 gene KCNQ1 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000053918 ENSG00000053918 HGNC:6294 KLF10 gene KLF10 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 22234868 False 1 0;0;100 4.5 True ENSG00000155090 ENSG00000155090 HGNC:11810 LAMA4 gene LAMA4 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1JJ (MIM#615235) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17646580;26406308;27532257 False 1 0;0;100 4.5 True ENSG00000112769 ENSG00000112769 HGNC:6484 MRC2 gene MRC2 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID - 38953222 False 1 0;0;100 4.5 True ENSG00000011028 ENSG00000011028 HGNC:16875 MYBPC3 gene MYBPC3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1MM, MIM#615396 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;50;50 4.5 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 1 0;0;100 4.5 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYL3 gene MYL3 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK2 gene MYLK2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Other Cardiomyopathy, hypertrophic, 1, digenic, 192600 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 11733062;24082139;25825456;20301725;30681346 False 1 0;0;100 4.5 True Other ENSG00000101306 ENSG00000101306 HGNC:16243 MYOM1 gene MYOM1 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27600940;26656175;21256114 False 1 0;33;67 4.5 True ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17347475;18591919;28296734;30681346;22987565 False 1 0;0;100 4.5 True ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;20801532;22286171 False 1 0;0;100 4.5 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEXN gene NEXN Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 20, MIM# 613876 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 20970104;30681346 False 1 0;0;100 4.5 True ENSG00000162614 ENSG00000162614 HGNC:29557 NNT gene NNT Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted left ventricular noncompaction MONDO:0018901 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26025024 False 1 0;0;100 4.5 True ENSG00000112992 ENSG00000112992 HGNC:7863 NUP155 gene NUP155 Expert Review Red;Literature;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal familial atrial fibrillation MONDO:0018054 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 19070573 False 1 0;0;100 4.5 True ENSG00000113569 ENSG00000113569 HGNC:8063 OBSCN gene OBSCN Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;26573135;17716621;25173926;28630914;33438037 False 1 0;0;100 4.5 True ENSG00000154358 ENSG00000154358 HGNC:15719 PDLIM3 gene PDLIM3 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000154553 ENSG00000154553 HGNC:20767 PDLIM3 gene PDLIM3 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;26455666;20801532 False 1 0;0;100 4.5 True ENSG00000154553 ENSG00000154553 HGNC:20767 PHLPP2 gene PHLPP2 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy MONDO:0005045, PHLPP2-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 40634996;29628444 False 1 0;0;100 4.5 True ENSG00000040199 ENSG00000040199 HGNC:29149 PKP2 gene PKP2 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000057294 ENSG00000057294 HGNC:9024 PPCS gene PPCS Expert Review Red;Expert list Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 2C, MIM# 618189" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29754768 False 1 0;100;0 4.5 True ENSG00000127125 ENSG00000127125 HGNC:25686 PSEN1 gene PSEN1 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000080815 ENSG00000080815 HGNC:9508 RANGRF gene RANGRF Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000108961 ENSG00000108961 HGNC:17679 RYR2 gene RYR2 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 11159936;25041964;29543670 False 1 0;0;100 4.5 True ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;26573135;22515980;26656175;30835254 False 1 0;100;0 4.5 True ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Brugada syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders Unknown Brugada syndrome 1, MONDO:0011001 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29959160 False 1 0;0;100 4.5 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3B gene SCN3B Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 7 MIM#613120 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 10, MIM# 611819" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 1 0;0;100 4.5 True ENSG00000177098 ENSG00000177098 HGNC:10592 SCN5A gene SCN5A Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 34557911 False 1 0;0;100 4.5 True ENSG00000183873 ENSG00000183873 HGNC:10593 SHOX2 gene SHOX2 Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sinus Node Dysfunction;Atrial Fibrillation Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30443179 False 1 0;0;100 4.5 True ENSG00000168779 ENSG00000168779 HGNC:10854 SLC22A5 gene SLC22A5 Expert Review Red;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Short QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 34557911 False 1 0;0;100 4.5 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLMAP gene SLMAP Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000163681 ENSG00000163681 HGNC:16643 SNTA1 gene SNTA1 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 12, MIM# 612955" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 1 0;0;100 4.5 True ENSG00000101400 ENSG00000101400 HGNC:11167 SOD2 gene SOD2 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31494578 False 1 0;0;100 4.5 True ENSG00000112096 ENSG00000112096 HGNC:11180 TAZ gene TAZ Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome (MIM# 302060) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 25, MIM# 607487" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 16352453;15582318;30681346 False 1 0;0;100 4.5 True ENSG00000173991 ENSG00000173991 HGNC:11610 TCAP gene TCAP Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954);Cardiomyopathy, hypertrophic, 25 (MIM# 607487)" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31303467;15582318;24037902 False 1 0;100;0 4.5 True ENSG00000173991 ENSG00000173991 HGNC:11610 TGFB3 gene TGFB3 Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1, MIM# 107970 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 15639475 False 1 0;0;100 4.5 True ENSG00000119699 ENSG00000119699 HGNC:11769 TMEM168 gene TMEM168 ClinGen;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 https://search.clinicalgenome.org/CCID:009114 False 1 0;0;100 4.5 False ENSG00000146802 ENSG00000146802 HGNC:25826 TMPO gene TMPO Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000120802 ENSG00000120802 HGNC:11875 TRPM4 gene TRPM4 Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000130529 ENSG00000130529 HGNC:17993 TTL gene TTL Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045, TTL-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 40779454 False 1 0;0;100 4.5 True ENSG00000114999 ENSG00000114999 HGNC:21586 TTN gene TTN Expert Review Red;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 1 0;0;100 4.5 True ENSG00000155657 ENSG00000155657 HGNC:12403 UQCRFS1 gene UQCRFS1 Expert Review Red;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Complex III deficiency;lactic acidosis;fetal bradycardia;hypertrophic cardiomyopathy;alopecia totalis Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31883641 False 1 100;0;0 4.5 True ENSG00000169021 ENSG00000169021 HGNC:12587 VCL gene VCL Expert Review Red;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17097056;30681346 False 1 0;0;100 4.5 True ENSG00000035403 ENSG00000035403 HGNC:12665 VEZF1 gene VEZF1 Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 36657711 False 1 0;0;100 4.5 False ENSG00000136451 ENSG00000136451 HGNC:12949