| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Auditory neuropathy | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Auditory neuropathy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome | |
| | | Single nucleotide variant (nonsense) | Usher syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 2 | |
Click to view in NCBI Gene