| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Spastic paraplegias (CYP2U1) | Spastic paraplegia 56 | Autosomal Recessive | 4q25 | Substitution | CYP2U1 | c.604G>A | p.Glu202Lys | Missense | Zulfiqar et al., 2019/2019 |
