| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 2 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 2 | |
Click to view in NCBI Gene