| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 16 | |
| | JMJD8, STUB1 (E113K +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
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