| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Aniridia 1 +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Aniridia 1 +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Aniridia 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Intellectual disability | |
Click to view in NCBI Gene