| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ullrich congenital muscular dystrophy 1A +11 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Ullrich congenital muscular dystrophy 1A +3 more | |
Click to view in NCBI Gene