| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | COL18A1, SLC19A1 (P1078L +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | COL18A1, SLC19A1 (L1352fs +2 more) | Deletion (frameshift variant) | Retinal dystrophy +4 more | |
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