| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | RYR1-Related Disorders +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Central core myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia of anesthesia | |
Click to view in NCBI Gene