| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | STUB1, JMJD8 (H188P +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
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