| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | JMJD8, RHBDL1 +2 more (N116D +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Spinocerebellar ataxia 48 | |
Click to view in NCBI Gene