| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Usher syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Usher syndrome | |
| | | Single nucleotide variant (nonsense) | USH2A-Related Disorders +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Rare genetic deafness +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome +6 more | |
Click to view in NCBI Gene