| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (POGZ) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Dominant | 1q21.3 | Substitution | POGZ | c.1522C>T | p.Arg508* | Nonsense | Khan et al., 2022/2022 |
