| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Usher syndrome +11 more | |
| | | Single nucleotide variant (nonsense +3 more) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (nonsense) | Rare genetic deafness +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Usher syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Usher syndrome type 3A +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +5 more | |
| | | Indel | Retinitis pigmentosa +6 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant +1 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 3A +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene