| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene