| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Infantile onset spinocerebellar ataxia +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Perrault syndrome 5 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Infantile onset spinocerebellar ataxia +3 more | |
Click to view in NCBI Gene