| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP1B1, LOC128772254 (N453S) | Single nucleotide variant (missense variant) | Congenital glaucoma +5 more | |
| | | Single nucleotide variant (synonymous variant) | Anterior segment dysgenesis 6 +5 more | |
| | CYP1B1, LOC128772254 (R444*) | Single nucleotide variant (nonsense) | not provided +3 more | |
Click to view in NCBI Gene