| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Irido-corneo-trabecular dysgenesis | |
| | | Single nucleotide variant (missense variant +3 more) | Irido-corneo-trabecular dysgenesis | |
| | | Deletion (5 prime UTR variant +2 more) | Aniridia 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Irido-corneo-trabecular dysgenesis | |
Click to view in NCBI Gene