| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL12A1, LOC126859712 (M1257V +1 more) | Single nucleotide variant (missense variant) | Bethlem myopathy 2 | |
| | COL12A1, LOC126859712 (V1250F +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +3 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
Click to view in NCBI Gene