| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +5 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 2 +3 more | |
| | | Duplication (frameshift variant) | Usher syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive nonsyndromic hearing loss 2 | |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Usher syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Usher syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Usher syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 2 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene