| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary breast &ovarian cancer syndrome(MSH2) | Inherited gynecologic malignancies | 2p21 | Nonsense | MSH2 | 2656G>T | Glu886* | Premature Termination | Rashid et al., 2016/2016 |
