Ullrich congenital muscular dystrophy: genes and variants
Ullrich congenital muscular dystrophy is linked to 3 analyzed proteins (COL6A2, COL6A1 and COL6A3). 14 DNA variants are known to cause it; 75 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Ullrich congenital muscular dystrophy 1A; Ullrich congenital muscular dystrophy 1B; Ullrich congenital muscular dystrophy 1C
Genes linked to Ullrich congenital muscular dystrophy
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.
8 disease-causing and 20 uncertain variants in COL6A2 are linked to Ullrich congenital muscular dystrophy.
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.
5 disease-causing and 20 uncertain variants in COL6A1 are linked to Ullrich congenital muscular dystrophy.
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.
1 disease-causing and 35 uncertain variants in COL6A3 are linked to Ullrich congenital muscular dystrophy.
Where Ullrich congenital muscular dystrophy variants cluster
- COL6A1 Triple-helical region (positions 257–592): 5 of 5 disease-causing changes, 3.1× more than its size predicts.
- COL6A2 VWFA 3 (positions 833–1014): 3 of 8 disease-causing changes, 2.1× more than its size predicts.
- COL6A2 Triple-helical region (positions 257–590): 4 of 8 disease-causing changes, 1.5× more than its size predicts.
Known disease-causing variants in Ullrich congenital muscular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL6A2 R876H | 876 | VWFA 3 | Disease-causing (★★) |
| COL6A1 G380R | 380 | Triple-helical region | Disease-causing (★★) |
| COL6A1 G281E | 281 | Triple-helical region | Disease-causing (★★) |
| COL6A1 G296V | 296 | Triple-helical region | Disease-causing (★★) |
| COL6A2 G328R | 328 | Triple-helical region | Disease-causing (★★) |
| COL6A2 G700D | 700 | VWFA 2 | Disease-causing (★★) |
| COL6A2 G283R | 283 | Triple-helical region | Disease-causing (★★) |
| COL6A2 G289D | 289 | Triple-helical region | Disease-causing (★★) |
| COL6A2 D871N | 871 | VWFA 3 | Disease-causing (★★) |
| COL6A1 G263C | 263 | Cell attachment site | Disease-causing (★) |
| COL6A1 P495S | 495 | Triple-helical region | Disease-causing (★) |
| COL6A3 G2080C | 2080 | Collagen-like 1 | Disease-causing (★) |
| COL6A2 P341T | 341 | Triple-helical region | Disease-causing (★) |
| COL6A2 R876S | 876 | VWFA 3 | Disease-causing |
Which prediction tools work for Ullrich congenital muscular dystrophy
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 87 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 79 out of 100
Same protein, different disease
- Bethlem myopathy is also caused by COL6A2 variants; they fall mostly in different places as the Ullrich congenital muscular dystrophy variants (39 disease-causing).
- Bethlem myopathy is also caused by COL6A1 variants; they fall partly in the same places as the Ullrich congenital muscular dystrophy variants (36 disease-causing).
- Bethlem myopathy is also caused by COL6A3 variants; they fall mostly in different places as the Ullrich congenital muscular dystrophy variants (21 disease-causing).
Diseases related to Ullrich congenital muscular dystrophy
- Bethlem myopathy, also linked to COL6A1, COL6A2 and COL6A3
- Collagen 6-related myopathy, 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 Ullrich congenital muscular dystrophy?
In CATVariant, Ullrich congenital muscular dystrophy 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 Ullrich congenital muscular dystrophy?
113 variants: 14 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 75 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ullrich congenital muscular dystrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Ullrich congenital muscular dystrophy?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.79, based on 14 disease-causing and 331 harmless variants).
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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