| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) | Charcot-Marie-Tooth (CMT) and autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) phenotype | Autosomal Recessive | 13q12.12 | Substitution | SACS | c.4934G>C | p.Arg1645Pro | Missense | Zaman et al., 2023/2023 |
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) | autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS) phenotype | Autosomal Recessive | 13q12.12 | Substitution | SACS | c.262C>T | p.Arg88Ter | Missense | Zaman et al., 2023/2023 |
