| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Usher syndrome type 3 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Usher syndrome type 3 | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | Usher syndrome type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 3 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene