MYH7 Chromosome 14

Myosin heavy chain 7
761 variants 761 Health Risk

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What This Gene Does
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022]
Gene Info
Gene Group
"Myosin heavy chains, class II|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000092054
Associated Conditions (47)
Hypertrophic cardiomyopathy
Cardiomyopathy
Cardiovascular phenotype
Left ventricular hypertrophy
Left ventricular noncompaction cardiomyopathy
Hypertrophic cardiomyopathy 1
Arrhythmogenic right ventricular dysplasia 9
MYH7-related disorder
MYH7-related skeletal myopathy
Dilated cardiomyopathy 1S
Myosin storage myopathy
Primary familial hypertrophic cardiomyopathy
Myopathy
myosin storage
autosomal recessive
6 conditions
Primary dilated cardiomyopathy
Hypotonia
Hypertrophic cardiomyopathy 4
Left ventricular noncompaction 5
+27 more conditions
Key Variants
RS1005703927
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1008225259
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1020453843
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1057517771
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1057517773
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1057518560
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1057519221
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1057521992
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1057524857
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1060499880
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1060501432
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS1060501436
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
All Variants (761)
RSID Category Clinical Significance Conditions
RS1005703927 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1008225259 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1020453843 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1057517771 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1057517773 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
RS1057518560 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1057519221 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1057521992 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS1057524857 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1060499880 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1060501432 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1060501436 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1060501439 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction cardiomyopathy
RS1064793206 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1064796729 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1064797183 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1114167342 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS111547156 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related disorder, Cardiovascular phenotype
RS111761637 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS112172952 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1160062159 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, MYH7-related disorder
RS1171861442 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S
RS1176998293 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, MYH7-related disorder
RS1205044520 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS1212642361 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1S
RS1216521596 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS121913627 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS121913638 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy, Cardiomyopathy
RS121913644 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1222361739 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1224554825 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1227114881 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1241603111 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Cardiovascular phenotype
RS1244840759 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1265368591 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Cardiovascular phenotype
RS1270186626 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1271751767 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1278076805 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy
RS1289270339 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
RS1295948508 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions, Hypertrophic cardiomyopathy
RS1318155896 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, Dilated cardiomyopathy 1S
RS1336792481 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1339799654 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype, 6 conditions
RS1343088568 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy, 6 conditions
RS1346778409 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS1348730180 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1355535952 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyopathy
RS1374291383 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Cardiomyopathy
RS137918672 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS139506719 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
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