| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Late-onset retinal degeneration | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Isolated microphthalmia 5 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene