| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 23 | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 1F +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Usher syndrome type 1F +1 more | |
Click to view in NCBI Gene