| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Werner Syndrome (WRN) | Adult-onset Segmental Progeroid | Autosomal Recessive | 8p12 | Missense | WRN | 561A>G | Lys187Lys | Amino Acid Substitution | Saha et al., 2013/2013 |
| Werner Syndrome (WRN) | Adult-onset Segmental Progeroid | Autosomal Recessive | 8p12 | Deletion | WRN | 557_654del98 | Lys187Trpfs*13 | Frame shift mutation & PTC | Saha et al., 2013/2013 |
