| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Joubert syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 3 +1 more | |
| | | Duplication (frameshift variant) | not provided +3 more | |
Click to view in NCBI Gene