| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 3A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Knuckle pads, deafness AND leukonychia syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 1A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Nonsyndromic genetic hearing loss | |
Click to view in NCBI Gene