| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (missense variant) | COL6A2-related condition +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene