| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | |
| | | Deletion (frameshift variant) | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | |
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