| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1B +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
Click to view in NCBI Gene