| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP1B1, LOC128772254 (F445I) | Single nucleotide variant (missense variant) | Primary congenital glaucoma +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Glaucoma 3A +1 more | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene