| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Irido-corneo-trabecular dysgenesis +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Isolated optic nerve hypoplasia +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene