| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Rare genetic deafness +11 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (intron variant) | Ichthyosis, hystrix-like, with hearing loss +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene