| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Ataxia-pancytopenia syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia-pancytopenia syndrome | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia 49 +2 more | |
Click to view in NCBI Gene