Myopathy, centronuclear, 2: genes and variants
Myopathy, centronuclear, 2 is linked to 1 analyzed protein (BIN1). 4 DNA variants are known to cause it; 256 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, centronuclear, 2
BIN1: Myc box-dependent-interacting protein 1
It shapes cellular membranes and participates in endocytosis, T-tubule organization in muscle, and membrane trafficking in neurons. Pathogenic variants can cause centronuclear myopathy, while common variation at the BIN1 locus is strongly associated with late-onset Alzheimer disease risk.
4 disease-causing and 256 uncertain variants in BIN1 are linked to Myopathy, centronuclear, 2.
Known disease-causing variants in Myopathy, centronuclear, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| BIN1 R234C | 234 | BAR | Disease-causing (★★) |
| BIN1 R145C | 145 | BAR | Disease-causing (★★) |
| BIN1 D151N | 151 | BAR | Disease-causing |
| BIN1 K35N | 35 | BAR | Disease-causing |
Diseases related to Myopathy, centronuclear, 2
- Alzheimer disease, also linked to BIN1
Frequently asked questions
Which genes are linked to Myopathy, centronuclear, 2?
In CATVariant, Myopathy, centronuclear, 2 is linked to 1 analyzed protein: BIN1 (Myc box-dependent-interacting protein 1).
How many genetic variants are linked to Myopathy, centronuclear, 2?
274 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 256 are of uncertain significance or have conflicting reports.
Which uncertain variants in Myopathy, centronuclear, 2 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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