| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +8 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
| | | Single nucleotide variant (missense variant) | Age related macular degeneration 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Usher syndrome type 2 +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene