| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Focal segmental glomerulosclerosis 9 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | CRB2-related disorder +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene