| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Folate Malabsorption (PCFT) | impaired intestinal folate malabsorp etc | Autosomal Recessive | 17q11.2 | Duplication | PCFT (SLC46A1) | 194dupG | Cys66Leufs*99 | Frame shift mutation & PTC | 0/Meyer et al., 2010 |
