| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Charcot-Marie-Tooth (CMTX1) | Charcot-Marie-Tooth (CMT) | X Linked Dominant | Xq13.1 | Substitution | GJB1 | c.61G>C | .Gly21Arg | Missense | Zaman et al., 2023/2023 |
