| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 3 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Leber congenital amaurosis +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene