| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital myopathy with fiber type disproportion +6 more | |
| | | Single nucleotide variant (nonsense) | RYR1-related disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital multicore myopathy with external ophthalmoplegia +1 more | |
Click to view in NCBI Gene