| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | |
| | | Deletion (5 prime UTR variant +1 more) | Nanophthalmos 2 +1 more | |
| | | Insertion (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinal degeneration +4 more | |
Click to view in NCBI Gene