| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Proximal myopathy with extrapyramidal signs | |
| | | Single nucleotide variant (nonsense) | Proximal myopathy with extrapyramidal signs | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene