| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL12A1, LOC126859712 (A1280V +1 more) | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | COL12A1, LOC126859712 (V1267A +1 more) | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | COL12A1, LOC126859712 (T2408R +1 more) | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | |
| | COL12A1, LOC126859712 (D1206N +1 more) | Single nucleotide variant (missense variant) | not provided | |
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