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