| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ELP4, PAX6 (K387* +4 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Aniridia 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Isolated optic nerve hypoplasia +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Aniridia 1 +9 more | |
| | | Deletion (inframe_deletion +1 more) | Aniridia 1 +7 more | |
Click to view in NCBI Gene