| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL18A1, SLC19A1 (P1104W +2 more) | Indel (missense variant) | Knobloch syndrome | |
| | COL18A1, SLC19A1 (R1106Q +2 more) | Single nucleotide variant (missense variant) | Knobloch syndrome +1 more | |
| | COL18A1, SLC19A1 (G1178fs +2 more) | Deletion (frameshift variant) | Knobloch syndrome | |
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