| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | JMJD8, RHBDL1
+2 more (N116D +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | JMJD8, STUB1 (K134fs +1 more) | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Spinocerebellar ataxia 48 | |
Click to view in NCBI Gene