| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Paramyotonia congenita of Von Eulenburg +3 more | |
| | | Single nucleotide variant (missense variant) | Potassium-aggravated myotonia | |
| | | Single nucleotide variant (missense variant) | Hyperkalemic periodic paralysis +8 more | |
Click to view in NCBI Gene