| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
Click to view in NCBI Gene