| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
Click to view in NCBI Gene