| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 7 | |
Click to view in NCBI Gene