| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | COL12A1-related condition +3 more | |
| | | Duplication (intron variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Duplication (intron variant) | COL12A1-related condition +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +1 more | |
Click to view in NCBI Gene