| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (TBR1) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Dominant | 2q24.2 | Substitution | TBR1 | c.517G>C | p.Gly173Arg | Missense | Khan et al., 2022/2022 |
