| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | COL6A3-related phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Collagen 6-related myopathy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene