| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP1B1, LOC128772254 (R469W) | Single nucleotide variant (missense variant) | Primary congenital glaucoma +4 more | |
| | CYP1B1, LOC128772254 (P442fs) | Deletion (frameshift variant) | Glaucoma 3A +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene