| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP1B1, LOC128772254 (S476P) | Single nucleotide variant (missense variant) | Congenital glaucoma +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Congenital glaucoma +5 more | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +4 more | |
Click to view in NCBI Gene