| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene