MYH6 Chromosome 14
Myosin heavy chain 6
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What This Gene Does
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
"Myosin heavy chains, class II|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000197616
Associated Conditions (34)
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 14
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Atrial septal defect 3
MYH6-related disorder
Hypertrophic cardiomyopathy 1
Dilated cardiomyopathy 1EE
Sick sinus syndrome 3
susceptibility to
Brugada syndrome
Left ventricular noncompaction cardiomyopathy
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Wolff-Parkinson-White pattern
Ventricular tachycardia
Primary familial dilated cardiomyopathy
Hemiplegia
+14 more conditions
Key Variants
RS1027186100
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 14
Health Risk
RS1057523902
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
Health Risk
RS113552091
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
Health Risk
RS115845031
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 14
Health Risk
RS1158854454
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
Health Risk
RS1168415754
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
Health Risk
RS1176670439
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
Health Risk
RS1233371859
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
Health Risk
RS1322705042
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 14, Cardiomyopathy
Health Risk
RS1366859659
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
Health Risk
RS138127105
Conflicting classifications of pathogenicity
Cardiomyopathy, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
Health Risk
RS138213182
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
Health Risk
All Variants (137)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760780588 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiomyopathy, Hypertrophic cardiomyopathy 14 |
| RS761085263 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiomyopathy, Cardiovascular phenotype |
| RS761711033 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14 |
| RS763963623 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Sick sinus syndrome 3 |
| RS765006624 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS765103086 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Atrial septal defect 3 |
| RS765312755 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS766134513 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS769708956 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14 |
| RS769756450 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14 |
| RS770221652 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS770933834 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14, Dilated cardiomyopathy 1EE |
| RS773445582 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14 |
| RS775560235 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiomyopathy, Cardiovascular phenotype |
| RS778287981 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiomyopathy, Cardiovascular phenotype |
| RS778319108 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS780456381 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS786205484 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS796313537 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Hypertrophic cardiomyopathy 14, MYH6-related disorder |
| RS878854502 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Conduction disorder of the heart |
| RS878854503 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14 |
| RS904695058 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14 |
| RS949717573 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 14, Cardiovascular phenotype, Hypertrophic cardiomyopathy 14 |
| RS981486511 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypertrophic cardiomyopathy 14, Cardiovascular phenotype |
| RS1131691839 | Health Risk | Likely pathogenic | MYH6-related disorder, MYH6-related disorder |
| RS1404787586 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS2502192999 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14 |
| RS2502193523 | Health Risk | Likely pathogenic | Hypoplastic left heart syndrome, Hypoplastic left heart syndrome |
| RS770907731 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS778808038 | Health Risk | Likely pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS1263987728 | Health Risk | Pathogenic | Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS1555334047 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1566513862 | Health Risk | Pathogenic | Heart, malformation of, Hypertrophic cardiomyopathy 14 |
| RS2502153575 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14 |
| RS267606903 | Health Risk | Pathogenic | Atrial septal defect 3, Atrial septal defect 3 |
| RS267606906 | Health Risk | Pathogenic | Dilated cardiomyopathy 1EE, Dilated cardiomyopathy 1EE |
| RS863225269 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |