| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (nonsense) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 3 | |
| | | Deletion (splice acceptor variant +1 more) | Abnormality of the eye | |
Click to view in NCBI Gene