| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Meniere disease +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Usher syndrome type 1C +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 18A | |
| | | Deletion (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Usher syndrome type 1C +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Usher syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Rare genetic deafness +5 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
Click to view in NCBI Gene