| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | Usher syndrome type 2C | |
| | | Single nucleotide variant (synonymous variant +1 more) | Usher syndrome type 2C | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 2C | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Usher syndrome type 2C | |
Click to view in NCBI Gene