| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spastic ataxia (SACS) | Spastic ataxia | Autosomal Recessive | 13q12.12 | Substitution | SACS | c.1201C>T | p.Arg401Ter | Saadi et al., 2023/2023 |
