Ullrich congenital muscular dystrophy 1A: genes and variants
Explore variant evidence for Ullrich congenital muscular dystrophy 1A across 3 analyzed proteins (COL6A2, COL6A1, COL6A3). Linked ClinVar records include 14 pathogenic or likely pathogenic variants, 36 variants of uncertain significance and 39 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Ullrich congenital muscular dystrophy 1A
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 ClinVar pathogenic / likely pathogenic and 20 uncertain variants in COL6A2 have source records linked to Ullrich congenital muscular dystrophy 1A. Association strength is not clinical gene validity.
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 ClinVar pathogenic / likely pathogenic and 20 uncertain variants in COL6A1 have source records linked to Ullrich congenital muscular dystrophy 1A. Association strength is not clinical gene validity.
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 ClinVar pathogenic / likely pathogenic and 35 uncertain variants in COL6A3 have source records linked to Ullrich congenital muscular dystrophy 1A. Association strength is not clinical gene validity.
Where Ullrich congenital muscular dystrophy 1A variants cluster
- COL6A1 Triple-helical region (positions 257–592): 5 of 5 ClinVar pathogenic / likely pathogenic variants, 3.1× more than its size predicts.
- COL6A2 VWFA 3 (positions 833–1014): 3 of 8 ClinVar pathogenic / likely pathogenic variants, 2.1× more than its size predicts.
- COL6A2 Triple-helical region (positions 257–590): 4 of 8 ClinVar pathogenic / likely pathogenic variants, 1.5× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Ullrich congenital muscular dystrophy 1A
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL6A2 R876H | 876 | VWFA 3 | Pathogenic / likely pathogenic (★★) |
| COL6A1 G380R | 380 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL6A1 G281E | 281 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL6A1 G296V | 296 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL6A2 G328R | 328 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL6A2 G700D | 700 | VWFA 2 | Pathogenic / likely pathogenic (★★) |
| COL6A2 G283R | 283 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL6A2 G289D | 289 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL6A2 D871N | 871 | VWFA 3 | Pathogenic / likely pathogenic (★★) |
| COL6A1 G263C | 263 | Cell attachment site | Pathogenic / likely pathogenic (★) |
| COL6A1 P495S | 495 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL6A3 G2080C | 2080 | Collagen-like 1 | Pathogenic / likely pathogenic (★) |
| COL6A2 P341T | 341 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL6A2 R876S | 876 | VWFA 3 | Pathogenic / likely pathogenic |
Which prediction tools work for Ullrich congenital muscular dystrophy 1A
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- 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 also has ClinVar records linked to COL6A2 variants; they fall mostly in different places as the Ullrich congenital muscular dystrophy 1A variants (39 pathogenic / likely pathogenic).
- Bethlem myopathy also has ClinVar records linked to COL6A1 variants; they fall partly in the same places as the Ullrich congenital muscular dystrophy 1A variants (36 pathogenic / likely pathogenic).
- Bethlem myopathy also has ClinVar records linked to COL6A3 variants; they fall mostly in different places as the Ullrich congenital muscular dystrophy 1A variants (21 pathogenic / likely pathogenic).
Diseases related to Ullrich congenital muscular dystrophy 1A
- 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 have records linked to Ullrich congenital muscular dystrophy 1A?
This view contains 3 analyzed proteins: COL6A2, COL6A1, COL6A3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 14 pathogenic or likely pathogenic variants, 36 variants of uncertain significance and 39 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 116 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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