| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Renal coloboma syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
Click to view in NCBI Gene