Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy: genes and variants
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy is linked to 1 analyzed protein (MYL2). 1 DNA variants are known to cause it; 10 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 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
MYL2: Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
It modulates cardiac myosin-head mechanics and phosphorylation-dependent force generation in ventricular sarcomeres. Pathogenic variants are an established cause of familial hypertrophic cardiomyopathy and can also produce other cardiomyopathy phenotypes.
1 disease-causing and 10 uncertain variants in MYL2 are linked to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy.
Known disease-causing variants in Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MYL2 F18L | 18 | Disease-causing (★★) |
Same protein, different disease
- Hypertrophic cardiomyopathy is also caused by MYL2 variants; they fall mostly in different places as the Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy variants (7 disease-causing).
Diseases related to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- Hypertrophic cardiomyopathy, also linked to MYL2
Frequently asked questions
Which genes are linked to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy?
In CATVariant, Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy is linked to 1 analyzed protein: MYL2 (Myosin regulatory light chain 2, ventricular/cardiac muscle isoform).
How many genetic variants are linked to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy?
14 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 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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