| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Usher syndrome type 2 +10 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of retinal pigmentation +8 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (E2840G +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pigmentary retinopathy +11 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 +8 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 31 +4 more | |
Click to view in NCBI Gene