| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 12 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Leber congenital amaurosis 8 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cone dystrophy +7 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 8 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene