| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Knobloch syndrome | |
| | | Single nucleotide variant (missense variant) | Knobloch syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Knobloch syndrome +1 more | |
| | COL18A1, SLC19A1 (P1163S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
Click to view in NCBI Gene