| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Glycogen storage disease II | Glycogen storage disease II | Autosomal recessive | 17q25.3 | Substitution | GAA | c.1930G>T | p.Ala644Ser | Missense | Gul et al., 2023/2023 |
