| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary neurological disorders (NALCN) | Impaired function of the central or peripheral nervous system due to aberrant electrical impulses | Autosomal Recessive | 13q32.3-q33.1 | Substitution | NALCN | c.3908G>A | p.Gly1303Asp | Missense | Khan et al., 2022/2022 |
