| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 3 | |
| | | Deletion (frameshift variant) | Glaucoma of childhood | |
| | | Copy number gain | Late onset congenital glaucoma | |
| | | Copy number gain | Anterior segment dysgenesis 3 | |
Click to view in NCBI Gene