| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Senior-Loken syndrome 5 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +2 more | |
| | | Duplication (frameshift variant +1 more) | Nephronophthisis +2 more | |
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +3 more | |
Click to view in NCBI Gene