| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Central core myopathy +6 more | |
| | | Single nucleotide variant (nonsense) | Congenital multicore myopathy with external ophthalmoplegia +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene