| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Spastic paraplegias (SPG3A,ATL1 ) | Spastic paraplegia 3A | Autosomal Recessive | 14q22.1 | Substitution | ATL1 | c.353G>A | p.(Arg118Gln) | Missense | Khan et al., 2014/2014 |
