| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ELP4, PAX6 (P222R +4 more) | Single nucleotide variant (3 prime UTR variant +3 more) | Aniridia 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Frasier syndrome +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene