| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated microphthalmia 6 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +4 more | |
Click to view in NCBI Gene