| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Autosomal recessive spinocerebellar ataxia 10 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 10 | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive spinocerebellar ataxia 10 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene