| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Usher syndrome type 1D | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 12 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene