| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +2 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A +3 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 2A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene