1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| CHEK2 | 22q12.1 | 604373 | REc | Li-Fraumeni syndrome, 609265 (3) | 609265 | 3 |
| CHEK2 | 22q12.1 | 604373 | REc | Osteosarcoma, somatic, 259500 (3) | 259500 | 3 |
| CHEK2 | 22q12.1 | 604373 | REc | {Breast cancer, susceptibility to}, 114480 (3) | 114480 | 3 |
| CHEK2 | 22q12.1 | 604373 | REc | {Prostate cancer, familial, susceptibility to}, 176807 (3) | 176807 | 3 |
| CHEK2 | 22q12.1 | 604373 | REc | {Breast and colorectal cancer, susceptibility to} (3) | NA | NA |