| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Retinal degeneration +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Isolated microphthalmia 5 | |
| | | Duplication (intron variant) | Retinal degeneration +1 more | |
Click to view in NCBI Gene