| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 10 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 10 | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +4 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 10 | |
Click to view in NCBI Gene