| | | Single nucleotide variant (intron variant) | Glaucoma 3, primary congenital, D +4 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3A +3 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +4 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +4 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary congenital, D +5 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 3 +4 more | |
| | | Single nucleotide variant (nonsense) | Anterior segment dysgenesis 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 3 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Weill-Marchesani syndrome 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Glaucoma 3, primary infantile, B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital glaucoma +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glaucoma 3A +3 more | |
| | | Single nucleotide variant (nonsense) | Anterior segment dysgenesis 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Duplication (frameshift variant) | Glaucoma 3A +3 more | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +1 more | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +3 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +4 more | |
| | | Single nucleotide variant (intron variant) | Glaucoma 3, primary infantile, B +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +5 more | |
| | | Deletion (inframe_deletion) | Glaucoma 3A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 3 +4 more | |
| | | Single nucleotide variant (intron variant) | Glaucoma 3, primary infantile, B +5 more | |
| | | Deletion (frameshift variant) | Glaucoma 3A +5 more | |
| | | Single nucleotide variant (missense variant) | Glaucoma 3A +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Glaucoma 3, primary infantile, B +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +4 more | |
| | | Single nucleotide variant (missense variant) | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glaucoma 3, primary infantile, B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +6 more | |
| | | Duplication (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Deletion (frameshift variant) | CYP1B1-related condition +5 more | |
| | | Deletion (nonsense) | Congenital glaucoma +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | LOC128772254, CYP1B1 (N453S) | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +5 more | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital glaucoma +5 more | |
| | | Duplication (frameshift variant) | Congenital glaucoma +5 more | |
| | | Duplication (frameshift variant) | Congenital glaucoma +5 more | |
| | | Single nucleotide variant (nonsense) | CYP1B1-Related Disorders +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital glaucoma +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis 6 +4 more | |