| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense) | Congenital multicore myopathy with external ophthalmoplegia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | desflurane response - Toxicity +7 more | GPathogenic; drug response |
| | | Single nucleotide variant (splice acceptor variant) | RYR1-related disorder | |
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