Variants
GJB2 variants
The 22 GJB2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.-22-2A>C | Intron 1 | 20,189,605 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 2 | 20,189,581 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>T | Exon 2 | 20,189,581 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 2 | 20,189,580 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>G | Exon 2 | 20,189,580 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 2 | 20,189,579 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E47K | c.139G>A | Exon 2 | 20,189,443 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G12C | c.34G>T | Exon 2 | 20,189,548 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G12Vfs*2 | c.35del | Exon 2 | 20,189,546 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K188R | c.563A>G | Exon 2 | 20,189,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L56Rfs*26 | c.167del | Exon 2 | 20,189,414 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L76P | c.227T>C | Exon 2 | 20,189,355 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L79Cfs*3 | c.235del | Exon 2 | 20,189,346 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M34T | c.101T>C | Exon 2 | 20,189,481 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M195T | c.584T>C | Exon 2 | 20,188,998 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M195V | c.583A>G | Exon 2 | 20,188,999 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S19T | c.56G>C | Exon 2 | 20,189,526 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V37A | c.110T>C | Exon 2 | 20,189,472 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V37F | c.109G>T | Exon 2 | 20,189,473 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V37I | c.109G>A | Exon 2 | 20,189,473 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W24X | c.71G>A | Exon 2 | 20,189,511 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W172C | c.516G>C | Exon 2 | 20,189,066 | Pathogenic | 3 stars out of 4 reviewed by expert panel |