| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Glycogen storage disease type X | Glycogen storage disease X | Autosomal Recessive | 7p13 | Duplication | PGAM2 | c.687dupC | p. Met230Hisfs*6 | Frameshift | Nayab, A et al., 2021/2021 |
