| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dystonic disorder +11 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia of anesthesia | |
| | | Single nucleotide variant (missense variant) | Glaucoma +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia of anesthesia | |
Click to view in NCBI Gene