| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Uveal coloboma-cleft lip and palate-intellectual disability | |
| | | Single nucleotide variant (missense variant) | Uveal coloboma-cleft lip and palate-intellectual disability +2 more | |
Click to view in NCBI Gene