| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Spinocerebellar ataxia 48 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 16 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spinocerebellar ataxia 16 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 16 +1 more | |
Click to view in NCBI Gene