| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Autosomal recessive nonsyndromic hearing loss 1A +8 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
| | | Duplication | Rare genetic deafness +3 more | GPathogenic/Likely pathogenic |
| | | Deletion | Nonsyndromic genetic hearing loss | |
| | | Single nucleotide variant (splice donor variant) | GJB2-related condition +15 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene