| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Usher syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 11 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Usher syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Rare genetic deafness +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 1 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene