| Description | OMIM Number |
| ADENOMATOUS POLYPOSIS OF THE COLON; APC (GARDNER SYNDROME INCLUDED) | 175100 |
| BASAL CELL NEVUS SYNDROME; BCNS | 109400 |
| BREAST CANCER 2, EARLY-ONSET; BRCA2 | 600185 |
| BREAST CANCER, TYPE 1; BRCA1 | 113705 |
| BURKITT LYMPHOMA; BL | 113970 |
| CANCER OF THE BREAST, FAMILIAL; BCS | 114480 |
| COWDEN DISEASE; CD | 158350 |
| DENYS-DRASH SYNDROME; DDS | 194080 |
| EWING SARCOMA BREAKPOINT REGION 1; EWSR1 EWING SARCOMA, INCLUDED; EWS, INCLUDED; ES, INCLUDED | 133450 |
| LEUKEMIA CHRONIC MYELOID; CML | 608232 |
| LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL | 247640 |
| MACROGLOBULINEMIA WALDENSTROM SUSCEPTIBILITY TO 1; WM1 | 153600 |
| MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 | 155601 |
| MULTIPLE ENDOCRINE NEOPLASIA TYPE IIB; MEN2B | 162300 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 | 131100 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2 | 171400 |
| T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1 | 187040 |
| TURCOT SYNDROME | 276300 |
| WILMS TUMOR 1; WT1 | 194070 |
