| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1A | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
Click to view in NCBI Gene