| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant centronuclear myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant centronuclear myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate B +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate B +1 more | |
Click to view in NCBI Gene