| AIP | Pituitary adenomas |
| APC | Colorectal, endocrine, gastric, nervous system/brain, and pancreatic cancer, sarcoma |
| ATM | Breast, pancreatic, and prostate cancer |
| AXIN2 | Colorectal cancer |
| BAP1 | Renal/urinary tract cancer, melanoma |
| BARD1 | Breast cancer |
| BMPR1A | Colorectal, gastric, and pancreatic cancer |
| BRCA1 | Breast, gynecologic, pancreatic, and prostate cancer |
| BRCA2 | Breast, gynecologic, pancreatic, and prostate cancer, melanoma |
| BRIP1 | Breast and gynecologic cancer |
| CDC73 | Endocrine and renal/urinary tract cancer |
| CDH1 | Breast, colorectal, and gastric cancer |
| CDK4 | Melanoma |
| CDKN1B | Prostate cancer |
| CDKN2A | Nervous system/brain and pancreatic cancer, melanoma |
| CHEK2 | Breast, colorectal, endocrine, gynecologic, and prostate cancer |
| CTNNA1 | Stomach and breast cancer |
| DDX41 | Haematological cancer |
| DICER1 | Endocrine, gynecologic, nervous system/brain, and renal/urinary tract cancer, sarcoma |
| EGFR | Lung cancer |
| EPCAM | Colorectal, gastric, gynecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer |
| FH | Renal/urinary tract cancer, sarcoma |
| FLCN | Renal/urinary tract cancer |
| GREM1 | Colorectal cancer |
| HOXB13 | Prostate cancer |
| KIT | Gastric cancer, sarcoma |
| LZTR1 | Schwannomatosis |
| MAX | Endocrine cancer |
| MEN1 | Endocrine, nervous system/brain, and pancreatic cancer |
| MET | Renal/urinary tract cancer |
| MITF | Melanoma |
| MLH1 | Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer |
| MSH2 | Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer |
| MSH3 | Colorectal cancer, includes reporting of carrier status |
| MSH6 | Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer |
| MUTYH | Colorectal cancer |
| NF1 | Breast, endocrine, gastric, and nervous system/brain cancer |
| NF2 | Nervous system/brain cancer |
| NTHL1 | Colorectal cancer, includes reporting of carrier status |
| PALB2 | Breast and pancreatic cancer |
| PDGFRA | Gastric cancer, sarcoma |
| PMS2 | Colorectal, gastric, gynecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer |
| POLD1 | Colorectal cancer |
| POLE | Colorectal cancer |
| POT1 | Melanoma, leukaemia |
| PRKAR1A | Endocrine and nervous system/brain cancer, sarcoma |
| PTCH1 | Nervous system/brain and skin cancer, sarcoma |
| PTEN | Breast, colorectal, endocrine, gynecologic, nervous system/brain and, renal/urinary tract cancer, melanoma |
| RAD51C | Breast and gynecologic cancer |
| RAD51D | Breast and gynecologic cancer |
| RB1 | Melanoma, retinoblastoma, sarcoma |
| RET | Endocrine cancer |
| RNF43 | Polyposis |
| RUNX1 | Haematological cancer |
| SDHA | Endocrine and gastric cancer, sarcoma |
| SDHAF2 | Endocrine cancer |
| SDHB | Endocrine, gastric, and renal/urinary tract cancer, sarcoma |
| SDHC | Endocrine, gastric, and renal/urinary tract cancer, sarcoma |
| SDHD | Endocrine, gastric, and renal/urinary tract cancer, sarcoma |
| SMAD4 | Colorectal, gastric, and pancreatic cancer |
| SMARCA4 | Gynecologic cancer |
| SMARCB1 | Nervous system/brain and renal/urinary tract cancer |
| STK11 | Breast, colorectal, gastric, gynecologic, and pancreatic cancer |
| SUFU | Nervous system cancer |
| TMEM127 | Endocrine cancer |
| TP53 | Breast, endocrine, gastrointestinal, genitourinary, gynecologic, hematologic, nervous system/brain, and skin cancer, sarcoma |
| TSC1 | Nervous system/brain, pancreatic, and renal/urinary tract cancer |
| TSC2 | Nervous system/brain, pancreatic, and renal/urinary tract cancer |
| VHL | Endocrine, nervous system/brain, pancreatic, and renal/urinary tract cancer |
