| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | COL18A1, SLC19A1 (G1187S +2 more) | Single nucleotide variant (missense variant) | Glaucoma, primary closed-angle +1 more | GConflicting classifications of pathogenicity |
| | COL18A1, SLC19A1 (L1352fs +2 more) | Deletion (frameshift variant) | not provided +4 more | |
| | SLC19A1, COL18A1 (G1455V +2 more) | Single nucleotide variant (missense variant) | Glaucoma, primary closed-angle | |
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