| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Focal segmental glomerulosclerosis 7 +3 more | |
| | | Duplication (frameshift variant) | Renal coloboma syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Renal coloboma syndrome +3 more | |
Click to view in NCBI Gene