| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (PLA2G6) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Recessive | 22q13.1 | Substitution | PLA2G6 | c.929T>A | p.Val310Glu | Missense | Khan et al., 2022/2022 |
