| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +6 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Ocular albinism +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene