| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | JMJD8, STUB1 (Y158fs +1 more) | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
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