| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Impaired vibration sensation in the lower limbs +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Duchenne muscular dystrophy +7 more | |
| | | Single nucleotide variant | Cognitive impairment +6 more | |
Click to view in NCBI Gene