| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myopathy with fiber type disproportion +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene