| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant +1 more) | Congenital myotonia, autosomal recessive form +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myotonia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscle weakness +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene