| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | JMJD8, STUB1 (Y180C +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Copy number gain | Chromosome 16p13.3 duplication syndrome | |
Click to view in NCBI Gene