| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 16 +1 more | |
Click to view in NCBI Gene