| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hypokalemic periodic paralysis, type 1 | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypokalemic periodic paralysis, type 1 | |
Click to view in NCBI Gene