| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | Autosomal Recessive | 14q32.11 | Substitution | TDP1 | c.1432 C>T | p.His478Tyr | Misense | Ahmad et al., 2024/2024 |
