| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cataract +2 more | |
| | | Deletion (frameshift variant +1 more) | Congenital aniridia | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital aniridia | |
| | | Indel (inframe_indel +3 more) | Congenital aniridia | |
Click to view in NCBI Gene