| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Constitutional mismatch repair deficiency (CMMRD) syndrome (PMS2) | Constitutional mismatch repair deficiency (CMMRD) syndrome | Autosomal Recessive | 7p22.1 | Delation | PMS2 | c.543delT | Baig et al., 2019/2019 |
