| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Wilson Disease(ATP7B) | neurological,psychiatric mani- festations | Autosomal Recessive | 13q14.3 | Missense Mutation | ATP7B | 813C>A | Cys271* | Amino acid substitution | 0/Khan HN et.al.,,2018 |
