| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL18A1, SLC19A1 (R1095* +1 more) | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | COL18A1, SLC19A1 (G1122fs +2 more) | Deletion (frameshift variant) | not provided | |
| | COL18A1, SLC19A1 (A1113fs +2 more) | Duplication (frameshift variant) | not provided | |
| | COL18A1, SLC19A1 (R1360H +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | SLC19A1, COL18A1 (G1197fs +2 more) | Deletion (frameshift variant) | not provided | |
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