| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126806573, COL6A3 (M3175T +2 more) | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1A +1 more | |
| | | Single nucleotide variant (intron variant) | Collagen 6-related myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | COL6A3, LOC126806573 (T3120P +2 more) | Single nucleotide variant (missense variant) | COL6A3-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Collagen 6-related myopathy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene