| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Polycystic kidney disease +14 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 10 +9 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 5 +3 more | |
Click to view in NCBI Gene