| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant +1 more) | Joubert syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant +1 more) | Familial aplasia of the vermis | |
Click to view in NCBI Gene