| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.23+1G>A | Splice error | Richard et al., 2019/2019 | |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Delation | GJB2 | c.35delG | p.(Gly12Valfs*2) | Frameshift | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.71G>A | p.(Trp24*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.223C>T | p.(Arg75Trp) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.224G>A | p.(Arg75Gln) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.231G>A | p.(Trp77*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.355G>T | p.(Glu119*) | Nonsense | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | c.457G>A | p.(Val153Ile) | Missense | Richard et al., 2019/2019 |
| Hearing Impaiment (GJB2) | Hearing loss | Autosomal Recessive | 13q12.11 | Substitution | GJB2 | p.G12Vfs*2 | Premature Terminition | Choi et al., 2023/2023 |
