| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC128772254, CYP1B1 (N453S) | Single nucleotide variant (missense variant) | Congenital glaucoma +5 more | |
| | | Single nucleotide variant (no sequence alteration) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Congenital glaucoma +5 more | |
| | | Single nucleotide variant (missense variant) | Congenital glaucoma +6 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Glaucoma 3A +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +5 more | |
| | | Microsatellite (inframe_deletion) | Anterior segment dysgenesis 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital glaucoma +4 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
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