| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary fructose intolerance (HFI) | Hereditary fructose intolerance (HFI) | Autosomal recessive | 9q31.1 | Substitution | ALDOB | c.264G>T | p.Asp88Glu | Missense | Gul et al., 2023/2023 |
