| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (5 prime UTR variant +2 more) | Congenital myopathy | |
| | | Single nucleotide variant (missense variant) | See cases +5 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene