| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Spinocerebellar ataxia, autosomal recessive 22 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia, autosomal recessive 22 +1 more | |
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