| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | LOC122152296, LOC126806009
+4 more | Deletion | Usher syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +3 more | |
| | | Duplication (frameshift variant) | Retinal degeneration +7 more | |
Click to view in NCBI Gene