| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Joubert syndrome with ocular defect | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome with ocular defect | |
| | | Insertion (frameshift variant) | Joubert syndrome with ocular defect | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | |
Click to view in NCBI Gene