Collagen 6-related myopathy: genes and variants
Collagen 6-related myopathy is linked to 3 analyzed proteins (COL6A2, COL6A1 and COL6A3). 4 DNA variants are known to cause it; 211 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 Collagen 6-related myopathy
COL6A2: Collagen alpha-2(VI) chain
It assembles with other collagen VI chains into extracellular microfibrils that support muscle and connective-tissue integrity. Dominant or recessive pathogenic variants cause collagen VI-related muscular dystrophy and myopathy across a broad severity spectrum.
2 disease-causing and 64 uncertain variants in COL6A2 are linked to Collagen 6-related myopathy.
COL6A1: Collagen alpha-1(VI) chain
It contributes to extracellular microfibrils that connect cells with surrounding matrix and are especially important in skeletal muscle and connective tissue. Pathogenic variants can cause collagen VI-related myopathies ranging from Bethlem muscular dystrophy to severe Ullrich congenital muscular dystrophy.
2 disease-causing and 38 uncertain variants in COL6A1 are linked to Collagen 6-related myopathy.
COL6A3: Collagen alpha-3(VI) chain
It forms part of collagen VI microfibrils that organize the extracellular matrix around muscle fibers and many other cells. Pathogenic variants can cause Bethlem or Ullrich-spectrum collagen VI myopathy and, in some alleles, isolated dystonia.
0 disease-causing and 109 uncertain variants in COL6A3 are linked to Collagen 6-related myopathy.
Known disease-causing variants in Collagen 6-related myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL6A1 G263V | 263 | Cell attachment site | Disease-causing (★★) |
| COL6A1 G275E | 275 | Triple-helical region | Disease-causing (★★) |
| COL6A2 D871N | 871 | VWFA 3 | Disease-causing (★★) |
| COL6A2 G358W | 358 | Triple-helical region | Disease-causing (★) |
Same protein, different disease
- Bethlem myopathy is also caused by COL6A2 variants; they fall mostly in different places as the Collagen 6-related myopathy variants (39 disease-causing).
- Ullrich congenital muscular dystrophy is also caused by COL6A2 variants; they fall mostly in different places as the Collagen 6-related myopathy variants (8 disease-causing).
- Bethlem myopathy is also caused by COL6A1 variants; they fall mostly in different places as the Collagen 6-related myopathy variants (36 disease-causing).
- Ullrich congenital muscular dystrophy is also caused by COL6A1 variants; they fall mostly in different places as the Collagen 6-related myopathy variants (5 disease-causing).
Diseases related to Collagen 6-related myopathy
- Bethlem myopathy, also linked to COL6A1, COL6A2 and COL6A3
- Ullrich congenital muscular dystrophy, also linked to COL6A1, COL6A2 and COL6A3
- Fetal anomalies with a likely genetic cause, also linked to COL6A3
- Muscular dystrophy, also linked to COL6A2
- Myopathy, also linked to COL6A2
Frequently asked questions
Which genes are linked to Collagen 6-related myopathy?
In CATVariant, Collagen 6-related myopathy is linked to 3 analyzed proteins: COL6A2 (Collagen alpha-2(VI) chain), COL6A1 (Collagen alpha-1(VI) chain) and COL6A3 (Collagen alpha-3(VI) chain).
How many genetic variants are linked to Collagen 6-related myopathy?
249 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 211 are of uncertain significance or have conflicting reports.
Which uncertain variants in Collagen 6-related myopathy 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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