| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Isolated microphthalmia 3 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene