| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL18A1, SLC19A1 (P1576L +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | COL18A1, SLC19A1 (R1180Q +2 more) | Single nucleotide variant (missense variant) | Knobloch syndrome +3 more | GConflicting classifications of pathogenicity |
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