| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1C | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1C +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene