Dilated cardiomyopathy 1EE: genes and variants
Dilated cardiomyopathy 1EE is linked to 1 analyzed protein (MYH6). 1 DNA variants are known to cause it; 105 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dilated cardiomyopathy 1EE
MYH6: Myosin-6
Its alpha-myosin motor contributes to ATP-dependent force generation in the cardiac sarcomere, particularly in atrial myocardium. Pathogenic variants can cause cardiomyopathy, congenital heart defects, and selected conduction-system disorders.
1 disease-causing and 105 uncertain variants in MYH6 are linked to Dilated cardiomyopathy 1EE.
Known disease-causing variants in Dilated cardiomyopathy 1EE
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYH6 P830L | 830 | Disease-causing |
Diseases related to Dilated cardiomyopathy 1EE
- Hypertrophic cardiomyopathy, also linked to MYH6
- Primary dilated cardiomyopathy, also linked to MYH6
- Atrial septal defect, also linked to MYH6
- Primary familial hypertrophic cardiomyopathy, also linked to MYH6
- Primary familial dilated cardiomyopathy, also linked to MYH6
- Sick sinus syndrome 2, autosomal dominant, also linked to MYH6
- Familial isolated dilated cardiomyopathy, also linked to MYH6
- Hypoplastic left heart syndrome, also linked to MYH6
Frequently asked questions
Which genes are linked to Dilated cardiomyopathy 1EE?
In CATVariant, Dilated cardiomyopathy 1EE is linked to 1 analyzed protein: MYH6 (Myosin-6).
How many genetic variants are linked to Dilated cardiomyopathy 1EE?
107 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 105 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dilated cardiomyopathy 1EE look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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