| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +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) | Spinocerebellar ataxia 48 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene