| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | COL12A1, LOC126859712 (I2410T +1 more) | Single nucleotide variant (missense variant) | Bethlem myopathy 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 2 +1 more | |
| | | Deletion (frameshift variant +1 more) | EMG abnormality +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 2 +1 more | |
Click to view in NCBI Gene