| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Abnormality of the musculature | |
| | | Deletion (frameshift variant) | Abnormal central motor function | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive ataxia, Beauce type +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene