| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Charcot-Marie-Tooth (CMT2EE) | Charcot-Marie-Tooth (CMT) and autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) phenotype | Autosomal Recessive | 2p23.3 | Substitution | MPV17 | c.83G>T | p.Gly28Val | Missense | Zaman et al., 2023/2023 |
