| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 8 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | CRB1-related maculopathy +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 8 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | CRB1-related disorder +9 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 12 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene