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Gene entry

TP53

tumor protein p53

Chromosome
17
Cytoband
17p13.1
Variants (rsID)
206

TP53 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “tumor protein p53”. The reference table lists 206 variants (rsID) for this gene.

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Clinically classified variants

197 reference-table entries with clinical significance.

  • rs1042522Benignsingle nucleotide variantCODON 72 POLYMORPHISM|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Lip and oral cavity carcinoma|Hereditary breast ovarian cancer syndrome
  • rs144340710Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Familial cancer of breast|Breast and/or ovarian cancer
  • rs145151284Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Familial cancer of breast
  • rs1625895Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1800371Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs1800372Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Malignant tumor of breast
  • rs1800899Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Malignant tumor of breast|Li-Fraumeni syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs2909430Benignsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs368771578Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome
  • rs55819519Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Familial ovarian cancer|Breast and/or ovarian cancer
  • rs1057519977Conflicting interpretationssingle nucleotide variantNeoplasm of the large intestine|Multiple myeloma|Squamous cell lung carcinoma|Acute myeloid leukemia|Breast neoplasm|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Neoplasm of brain|Lung adenocarcinoma|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Renal cell carcinoma, papillary, 1|Hereditary cancer-predisposing syndrome
  • rs1057519980Conflicting interpretationssingle nucleotide variantSquamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Renal cell carcinoma, papillary, 1|Neoplasm of brain|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Hepatocellular carcinoma|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Breast neoplasm|Acute myeloid leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary
  • rs1057519982Conflicting interpretationssingle nucleotide variantB-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Hepatocellular carcinoma|Carcinoma of esophagus|Gastric adenocarcinoma|Uterine carcinosarcoma|Glioblastoma|Transitional cell carcinoma of the bladder|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs1057519989Conflicting interpretationssingle nucleotide variantGlioblastoma|Neoplasm of the large intestine|Neoplasm of brain|Hepatocellular carcinoma|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Lung adenocarcinoma|Gastric adenocarcinoma|Li-Fraumeni syndrome|Familial cancer of breast
  • rs1057519991Conflicting interpretationssingle nucleotide variantHepatocellular carcinoma|Squamous cell carcinoma of the head and neck|Glioblastoma|Lung adenocarcinoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the skin|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Gallbladder carcinoma|Neoplasm of brain|Neoplasm of the large intestine|Breast neoplasm|Uterine carcinosarcoma|Small cell lung carcinoma|Malignant melanoma of skin|Li-Fraumeni syndrome|Neoplasm of ovary|Hereditary cancer-predisposing syndrome
  • rs1057519997Conflicting interpretationssingle nucleotide variantGlioblastoma|Carcinoma of esophagus|B-cell chronic lymphocytic leukemia|Breast neoplasm|Hepatocellular carcinoma|Malignant melanoma of skin|Gastric adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs1057519998Conflicting interpretationssingle nucleotide variantNeoplasm of uterine cervix|Neoplasm of brain|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Neoplasm of the large intestine|Breast neoplasm|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Glioblastoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Colorectal cancer
  • rs1060504161Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome
  • rs1064795369Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome|Familial cancer of breast
  • rs121912653Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome 1|Li-Fraumeni syndrome|Familial cancer of breast
  • rs121912654Conflicting interpretationssingle nucleotide variantHepatocellular carcinoma|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs121912657Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Breast neoplasm|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Renal cell carcinoma, papillary, 1|Medulloblastoma|Malignant neoplasm of body of uterus|Multiple myeloma|Li-Fraumeni syndrome
  • rs121912659Conflicting interpretationssingle nucleotide variantNon-Hodgkin lymphoma|Familial colorectal cancer|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs121912665Conflicting interpretationssingle nucleotide variantFamilial colorectal cancer|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome
  • rs144386518Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome
  • rs146340390Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Familial cancer of breast|Breast and/or ovarian cancer
  • rs17849781Conflicting interpretationssingle nucleotide variantSquamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck|Malignant melanoma of skin|Lung adenocarcinoma|Neoplasm of brain|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Breast neoplasm|Ovarian serous cystadenocarcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Multiple myeloma|Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs1800369Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Familial cancer of breast
  • rs201382018Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome|Li-Fraumeni syndrome 1
  • rs201753350Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary breast ovarian cancer syndrome
  • rs202217267Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs28934571Conflicting interpretationssingle nucleotide variantHepatocellular carcinoma|Cancer of cervix|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Squamous cell carcinoma of the head and neck
  • rs34361146Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs369599972Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs371409680Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Astrocytoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs483352697Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs530941076Conflicting interpretationssingle nucleotide variantBreast neoplasm|Ovarian serous cystadenocarcinoma|Glioblastoma|Prostate adenocarcinoma|Hepatocellular carcinoma|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Squamous cell lung carcinoma|Neoplasm of the large intestine|Papillary renal cell carcinoma, sporadic|Renal cell carcinoma, papillary, 1|Small cell lung carcinoma|Pancreatic adenocarcinoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Uterine carcinosarcoma|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome
  • rs587780074Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome
  • rs587781386Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck
  • rs587781858Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs587781991Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Adrenal cortex carcinoma|Neoplasm of the large intestine|Neoplasm of brain|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Squamous cell lung carcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome
  • rs587782082Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Small cell lung carcinoma|Carcinoma of esophagus|Uterine carcinosarcoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the skin|Hepatocellular carcinoma|Gastric adenocarcinoma|Squamous cell lung carcinoma|Acute myeloid leukemia|Glioblastoma|Medulloblastoma|Familial cancer of breast
  • rs587782148Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs587782289Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lung adenocarcinoma|Pancreatic adenocarcinoma|Breast neoplasm|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Neoplasm of brain|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome
  • rs587782620Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast neoplasm|Li-Fraumeni syndrome 1|Malignant tumor of breast
  • rs730881999Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome|Neoplasm of ovary
  • rs730882006Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs730882026Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs748527030Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck
  • rs773553186Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs775915220Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome
  • rs78378222Conflicting interpretationssingle nucleotide variantBasal cell carcinoma, susceptibility to, 7|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome
  • rs786201838Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Carcinoma of esophagus|Squamous cell carcinoma of the head and neck|B-cell chronic lymphocytic leukemia|Brainstem glioma|Small cell lung carcinoma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Papillary renal cell carcinoma, sporadic|Prostate adenocarcinoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Acute myeloid leukemia|Breast neoplasm|Uterine carcinosarcoma|Neoplasm of brain|Hepatocellular carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs786202752Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs786203436Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Small cell lung carcinoma|Uterine carcinosarcoma|Hepatocellular carcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Breast neoplasm|Neoplasm of brain|Neoplasm of the large intestine|Brainstem glioma|Squamous cell lung carcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Li-Fraumeni syndrome
  • rs864622237Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Small cell lung carcinoma|Carcinoma of esophagus|Glioblastoma|Gastric adenocarcinoma|Neoplasm of the large intestine|Adrenal cortex carcinoma|Hepatocellular carcinoma|Breast neoplasm|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Pancreatic adenocarcinoma
  • rs876659802Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Malignant neoplasm of body of uterus|Neoplasm of the large intestine|Neoplasm of brain|Breast neoplasm|Squamous cell carcinoma of the skin|Carcinoma of esophagus|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Malignant melanoma of skin|Squamous cell lung carcinoma|Multiple myeloma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of ovary|Li-Fraumeni syndrome|Gallbladder cancer
  • rs876660807Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Lung adenocarcinoma|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Renal cell carcinoma, papillary, 1|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Neoplasm of the large intestine|Breast neoplasm|Li-Fraumeni syndrome|Malignant tumor of breast
  • rs886039483Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs886039484Conflicting interpretationssingle nucleotide variantOvarian serous cystadenocarcinoma|Hepatocellular carcinoma|Breast neoplasm|Small cell lung carcinoma|Lung adenocarcinoma|Gastric adenocarcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Acute myeloid leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary
  • rs942158624Conflicting interpretationssingle nucleotide variantAcute myeloid leukemia|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Breast neoplasm|Uterine carcinosarcoma|Lung adenocarcinoma|Glioblastoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Carcinoma of esophagus|Gastric adenocarcinoma|Multiple myeloma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Neoplasm of the large intestine|Malignant tumor of esophagus|Li-Fraumeni syndrome
  • rs967461896Conflicting interpretationssingle nucleotide variantAcute myeloid leukemia|Lung adenocarcinoma|Gastric adenocarcinoma|Neoplasm of brain|Breast neoplasm|Squamous cell lung carcinoma|Carcinoma of esophagus|Renal cell carcinoma, papillary, 1|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Hepatocellular carcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs1057519625Drug responseDeletionPoly (ADP-Ribose) polymerase inhibitor response
  • rs149633775Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of stomach|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|11 conditions|Malignant tumor of breast
  • rs17882252Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs35993958Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome
  • rs375099397Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs534447939Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1|Malignant tumor of breast
  • rs568171603Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome
  • rs770776262Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs786201419Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876660821Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs1057519983Likely pathogenicsingle nucleotide variantNeoplasm of brain|Breast neoplasm|Hepatocellular carcinoma|Multiple myeloma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Renal cell carcinoma, papillary, 1|Lung adenocarcinoma|Carcinoma of esophagus|Glioblastoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Adrenal cortex carcinoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the head and neck|Hereditary cancer-predisposing syndrome
  • rs1057519987Likely pathogenicsingle nucleotide variantBreast neoplasm|Neoplasm of brain|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin
  • rs1057519992Likely pathogenicsingle nucleotide variantRenal cell carcinoma, papillary, 1|Squamous cell lung carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Glioblastoma|B-cell chronic lymphocytic leukemia|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome
  • rs1057519999Likely pathogenicsingle nucleotide variantNeoplasm of the large intestine|Renal cell carcinoma, papillary, 1|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Breast neoplasm|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Gastric adenocarcinoma|Hepatocellular carcinoma|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs1057523496Likely pathogenicsingle nucleotide variant
  • rs1060501212Likely pathogenicDeletionLi-Fraumeni syndrome
  • rs121912660Likely pathogenicsingle nucleotide variantNasopharyngeal carcinoma|Li-Fraumeni syndrome|Hepatocellular carcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Breast neoplasm|Acute myeloid leukemia|Neoplasm of uterine cervix|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Lung adenocarcinoma|Nasopharyngeal neoplasm|Neoplasm of brain|Carcinoma of esophagus|Uterine carcinosarcoma
  • rs121912662Likely pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Li-Fraumeni syndrome
  • rs28934573Likely pathogenicsingle nucleotide variantBone osteosarcoma|Hepatoblastoma|Hereditary cancer-predisposing syndrome|Squamous cell carcinoma of the skin|Non-Hodgkin lymphoma|Brainstem glioma|Carcinoma of esophagus|Breast neoplasm|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Neoplasm of brain|Malignant neoplasm of body of uterus|Glioblastoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Gallbladder carcinoma|Ovarian serous cystadenocarcinoma|Renal cell carcinoma, papillary, 1|Li-Fraumeni syndrome|Neoplasm of ovary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1
  • rs28934875Likely pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Li-Fraumeni syndrome
  • rs375874539Likely pathogenicsingle nucleotide variantSquamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Lung adenocarcinoma|Glioblastoma|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Carcinoma of esophagus|Uterine carcinosarcoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Breast neoplasm
  • rs397516434Likely pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome
  • rs483352696Likely pathogenicsingle nucleotide variant
  • rs587780071Likely pathogenicsingle nucleotide variantNeoplasm of uterine cervix|Neoplasm of brain|Breast neoplasm|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Glioblastoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Neoplasm of the large intestine|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome
  • rs587781589Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs765848205Likely pathogenicsingle nucleotide variantSquamous cell lung carcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Lung adenocarcinoma|Breast neoplasm|Brainstem glioma|Carcinoma of esophagus|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma
  • rs780442292Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs866775781Likely pathogenicsingle nucleotide variantLung adenocarcinoma|Breast neoplasm|Multiple myeloma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Squamous cell lung carcinoma|Uterine carcinosarcoma|Pancreatic adenocarcinoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Carcinoma of esophagus|Neoplasm of brain|Adrenal cortex carcinoma|Glioblastoma|Gastric adenocarcinoma|Neoplasm of uterine cervix|Li-Fraumeni syndrome
  • rs876658982Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876659076Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs879254077Likely pathogenicsingle nucleotide variant
  • rs1057517840PathogenicDeletionHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs1057519981Pathogenicsingle nucleotide variantGlioblastoma|Neoplasm of uterine cervix|Multiple myeloma|Pancreatic adenocarcinoma|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Neoplasm of brain|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Carcinoma of esophagus|Neoplasm of the large intestine|Breast neoplasm|Lung adenocarcinoma|Transitional cell carcinoma of the bladder|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs1057519986Pathogenicsingle nucleotide variantCarcinoma of esophagus|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Squamous cell carcinoma of the skin|Breast neoplasm|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1057519990Pathogenicsingle nucleotide variantGlioblastoma|Breast neoplasm|Neoplasm of the large intestine|Lung adenocarcinoma|Carcinoma of esophagus|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Uterine carcinosarcoma|Neoplasm of brain|Ovarian serous cystadenocarcinoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Small cell lung carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1057519996Pathogenicsingle nucleotide variantAdrenal cortex carcinoma|Neoplasm of brain|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Multiple myeloma|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Ovarian serous cystadenocarcinoma|Uterine carcinosarcoma|Breast neoplasm|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Glioblastoma|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs1057520007Pathogenicsingle nucleotide variantHepatocellular carcinoma|Renal cell carcinoma, papillary, 1|Squamous cell carcinoma of the head and neck|Non-Hodgkin lymphoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Breast neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Lung adenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Carcinoma of esophagus|Neoplasm of brain|Li-Fraumeni syndrome
  • rs1057520607Pathogenicsingle nucleotide variantNeoplasm of ovary
  • rs1060501194PathogenicDeletionLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1060501207Pathogenicsingle nucleotide variantLi-Fraumeni syndrome
  • rs1064792930PathogenicDeletionLi-Fraumeni syndrome
  • rs1064793279PathogenicDeletionLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1064793881Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome 1
  • rs1064793929PathogenicDeletionNeoplasm of ovary
  • rs1064794618Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs112431538Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Poly (ADP-Ribose) polymerase inhibitor response|Familial cancer of breast|Li-Fraumeni syndrome 1
  • rs11540652Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Sarcoma|Li-Fraumeni syndrome|Acute myeloid leukemia|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Breast neoplasm|Small cell lung carcinoma|Neoplasm|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Medulloblastoma|Prostate adenocarcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Gastric adenocarcinoma|Carcinoma of esophagus|Brainstem glioma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Squamous cell carcinoma of the skin|Myelodysplastic syndrome|Malignant neoplasm of body of uterus|Glioblastoma|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Lung adenocarcinoma|11 conditions|Neoplasm of ovary|Lymphoma|Lip and oral cavity carcinoma|Rhabdomyosarcoma|Familial cancer of breast|Ductal carcinoma in situ|Breast carcinoma|Colorectal cancer
  • rs11575997Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1202793339Pathogenicsingle nucleotide variantNeoplasm of ovary|Rhabdomyosarcoma|Li-Fraumeni syndrome
  • rs121912651Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Acute myeloid leukemia|Lung adenocarcinoma|Glioblastoma|Squamous cell carcinoma of the head and neck|Small cell lung carcinoma|B-cell chronic lymphocytic leukemia|Brainstem glioma|Ovarian serous cystadenocarcinoma|Myelodysplastic syndrome|Prostate adenocarcinoma|Carcinoma of esophagus|Gastric adenocarcinoma|Multiple myeloma|Uterine carcinosarcoma|Breast neoplasm|Squamous cell lung carcinoma|Hepatocellular carcinoma|Neoplasm|Neoplasm of brain|Transitional cell carcinoma of the bladder|Medulloblastoma|Neoplasm of the large intestine|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the skin|Malignant melanoma of skin|Pancreatic adenocarcinoma|7 conditions|Neoplasm of ovary|Lip and oral cavity carcinoma|Choroid plexus carcinoma|Gallbladder cancer
  • rs121912652Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome
  • rs121912655Pathogenicsingle nucleotide variantLi-Fraumeni-like syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Gastric adenocarcinoma|Squamous cell lung carcinoma|Transitional cell carcinoma of the bladder|B-cell chronic lymphocytic leukemia|Lung adenocarcinoma|Uterine carcinosarcoma|Squamous cell carcinoma of the head and neck|Hepatocellular carcinoma|Breast neoplasm|Glioblastoma|Carcinoma of esophagus|Neoplasm of ovary|Familial cancer of breast|Li-Fraumeni syndrome 1
  • rs121912656Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Ovarian serous cystadenocarcinoma|Breast neoplasm|Prostate adenocarcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Glioblastoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Neoplasm of the large intestine|Lung adenocarcinoma|Uterine carcinosarcoma|Transitional cell carcinoma of the bladder|Hepatocellular carcinoma|Gastric adenocarcinoma|Squamous cell lung carcinoma|Carcinoma of esophagus|Neoplasm of ovary
  • rs121912658Pathogenicsingle nucleotide variantLi-Fraumeni-like syndrome
  • rs121912661Pathogenicsingle nucleotide variantCarcinoma of pancreas
  • rs121912664Pathogenicsingle nucleotide variantAdrenocortical carcinoma, pediatric|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast neoplasm|Li-Fraumeni syndrome 1|Squamous cell carcinoma of the head and neck|Adrenocortical carcinoma, hereditary|See cases
  • rs121912666Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Squamous cell lung carcinoma|Renal cell carcinoma, papillary, 1|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Breast neoplasm|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Small cell lung carcinoma|Transitional cell carcinoma of the bladder|Uterine carcinosarcoma|Neoplasm of the large intestine|Papillary renal cell carcinoma, sporadic|Glioblastoma|Gastric adenocarcinoma|Neoplasm of brain|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs121912667Pathogenicsingle nucleotide variantAdrenocortical carcinoma, pediatric|Choroid plexus carcinoma|Li-Fraumeni syndrome
  • rs121913343Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Malignant tumor of prostate|Li-Fraumeni syndrome|Breast neoplasm|Neoplasm|Hepatocellular carcinoma|Acute myeloid leukemia|Neoplasm of ovary
  • rs121913344Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Head and neck neoplasm|Neoplasm of the large intestine|Neoplasm of ovary|Lip and oral cavity carcinoma|Li-Fraumeni syndrome 1|Familial cancer of breast
  • rs148924904Pathogenicsingle nucleotide variantHepatocellular carcinoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Small cell lung carcinoma|Breast neoplasm|Uterine carcinosarcoma|Malignant melanoma of skin|Pancreatic adenocarcinoma|Lung adenocarcinoma|Brainstem glioma|Carcinoma of esophagus|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs193920774Pathogenicsingle nucleotide variantMalignant tumor of prostate|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Glioblastoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the skin|Neoplasm of brain|Malignant melanoma of skin|Neoplasm of the large intestine|Uterine carcinosarcoma|Carcinoma of esophagus|Breast neoplasm|Small cell lung carcinoma|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Squamous cell lung carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs201744589Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Rhabdomyosarcoma
  • rs267605076Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs28934574Pathogenicsingle nucleotide variantLi-Fraumeni-like syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Non-Hodgkin lymphoma|Malignant melanoma of skin|Glioblastoma|Ovarian serous cystadenocarcinoma|Squamous cell lung carcinoma|Prostate adenocarcinoma|Squamous cell carcinoma of the skin|Neoplasm of the large intestine|Hepatocellular carcinoma|Breast neoplasm|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Renal cell carcinoma, papillary, 1|Malignant neoplasm of body of uterus|Neoplasm of brain|Astrocytoma, anaplastic|Pleomorphic xanthoastrocytoma|Neoplasm of ovary|Colorectal cancer
  • rs28934575Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Uterine carcinosarcoma|Breast neoplasm|Lung adenocarcinoma|Glioblastoma|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Prostate adenocarcinoma|Squamous cell carcinoma of the head and neck|Brainstem glioma|Neoplasm of brain|Squamous cell lung carcinoma|Carcinoma of esophagus|Neoplasm of the large intestine|Hepatocellular carcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Breast and/or ovarian cancer
  • rs28934576Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Thyroid gland undifferentiated (anaplastic) carcinoma|Hereditary cancer-predisposing syndrome|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Neoplasm of brain|Gastric adenocarcinoma|B-cell chronic lymphocytic leukemia|Adrenal cortex carcinoma|Multiple myeloma|Uterine carcinosarcoma|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Lung adenocarcinoma|Malignant melanoma of skin|Brainstem glioma|Carcinoma of esophagus|Pancreatic adenocarcinoma|Malignant neoplasm of body of uterus|Glioblastoma|Small cell lung carcinoma|Acute myeloid leukemia|Breast neoplasm|Li-Fraumeni syndrome|Neoplasm|Medulloblastoma|Hepatocellular carcinoma|Neoplasm of the large intestine|11 conditions|Neoplasm of ovary|Rhabdomyosarcoma|Malignant tumor of breast|Familial cancer of breast|Colorectal cancer|Multiple myeloma
  • rs28934578Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Malignant tumor of esophagus|Neoplasm|Breast neoplasm|11 conditions|Neoplasm of ovary|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck|Colorectal cancer|Familial cancer of breast
  • rs28934873Pathogenicsingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs375338359Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs397516435Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Familial cancer of breast|Li-Fraumeni syndrome 1
  • rs55863639Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Rhabdomyosarcoma|Breast and/or ovarian cancer|Malignant tumor of prostate|Glioma susceptibility 1|Li-Fraumeni syndrome 1
  • rs587776768PathogenicDeletionLi-Fraumeni syndrome 1
  • rs587780070Pathogenicsingle nucleotide variantSquamous cell lung carcinoma|Gastric adenocarcinoma|Acute myeloid leukemia|Glioblastoma|Squamous cell carcinoma of the skin|Ovarian serous cystadenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Uterine carcinosarcoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Neoplasm of brain|Malignant melanoma of skin|Malignant neoplasm of body of uterus|Gallbladder carcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Neoplasm of ovary|Hereditary cancer-predisposing syndrome
  • rs587781702Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs587781987PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs587782160Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587782272Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs587782529Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs587782609PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs587782664Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Ovarian serous cystadenocarcinoma|Neoplasm of brain|Malignant neoplasm of body of uterus|Brainstem glioma|Gastric adenocarcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Breast neoplasm|Carcinoma of esophagus|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Neoplasm of ovary|Breast and/or ovarian cancer|Li-Fraumeni syndrome 1
  • rs587782705Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1|Familial cancer of breast|Lip and oral cavity carcinoma|Squamous cell carcinoma of the head and neck
  • rs730882007Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm of ovary|Gastric cancer|Li-Fraumeni syndrome 1
  • rs730882015PathogenicDeletionHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs730882016PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs730882019PathogenicDuplicationLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome
  • rs747342068Pathogenicsingle nucleotide variantSquamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Multiple myeloma|Transitional cell carcinoma of the bladder|Pancreatic adenocarcinoma|Uterine carcinosarcoma|Breast neoplasm|Neoplasm of uterine cervix|Carcinoma of esophagus|Adrenal cortex carcinoma|Neoplasm of brain|Squamous cell lung carcinoma|Glioblastoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs760043106Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Breast neoplasm|Neoplasm of brain|Squamous cell lung carcinoma|B-cell chronic lymphocytic leukemia|Ovarian serous cystadenocarcinoma|Neoplasm of the large intestine|Uterine carcinosarcoma|Carcinoma of esophagus|Lung adenocarcinoma|Acute myeloid leukemia|Pancreatic adenocarcinoma|Glioblastoma|Hepatocellular carcinoma|Multiple myeloma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Neoplasm of ovary|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Li-Fraumeni syndrome 1
  • rs764146326Pathogenicsingle nucleotide variantB-cell chronic lymphocytic leukemia|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Breast neoplasm|Pancreatic adenocarcinoma|Multiple myeloma|Lung adenocarcinoma|Renal cell carcinoma, papillary, 1|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Squamous cell carcinoma of the skin|Hepatocellular carcinoma|Malignant melanoma of skin|Glioblastoma|Malignant neoplasm of body of uterus|Neuroblastoma|Uterine carcinosarcoma|Li-Fraumeni syndrome
  • rs786202055PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs786202082Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786202222Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786202315PathogenicDeletionHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs786202514PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs786202799Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Gallbladder cancer|Li-Fraumeni syndrome 1
  • rs863224499Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Li-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome
  • rs863224500Pathogenicsingle nucleotide variantLi-Fraumeni syndrome
  • rs866380588Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Li-Fraumeni syndrome 1
  • rs869312782Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876658468Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Papillary renal cell carcinoma, sporadic|Pancreatic adenocarcinoma|Hepatocellular carcinoma|B-cell chronic lymphocytic leukemia|Brainstem glioma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Malignant neoplasm of body of uterus|Prostate adenocarcinoma|Lung adenocarcinoma|Uterine carcinosarcoma|Neoplasm of the large intestine|Acute myeloid leukemia|Squamous cell lung carcinoma|Carcinoma of esophagus|Breast neoplasm|Transitional cell carcinoma of the bladder|Ovarian serous cystadenocarcinoma|Small cell lung carcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876658483Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs876658627PathogenicDeletionHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs876659215PathogenicDeletionHereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876659384Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs876660726PathogenicDeletionHereditary cancer-predisposing syndrome|Lip and oral cavity carcinoma
  • rs876660754Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Breast neoplasm|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Carcinoma of esophagus|Hepatocellular carcinoma|Neoplasm of the large intestine|Adrenal cortex carcinoma|Neoplasm of brain|Brainstem glioma|Malignant melanoma of skin|Gastric adenocarcinoma|Small cell lung carcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Neoplasm of ovary|Lip and oral cavity carcinoma
  • rs878854071PathogenicDeletionLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs878854073Pathogenicsingle nucleotide variantLi-Fraumeni syndrome
  • rs879253905PathogenicDeletionHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs879253942Pathogenicsingle nucleotide variantLi-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Rhabdomyosarcoma
  • rs886041285PathogenicDuplicationLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome
  • rs985033810Pathogenicsingle nucleotide variantNeoplasm of the large intestine|Squamous cell lung carcinoma|Glioblastoma|Small cell lung carcinoma|Carcinoma of esophagus|Lung adenocarcinoma|Uterine carcinosarcoma|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of brain|Gastric adenocarcinoma|Li-Fraumeni syndrome|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Hereditary cancer-predisposing syndrome|Neoplasm of ovary|Li-Fraumeni syndrome 1
  • rs1057519747Uncertain significancesingle nucleotide variantMalignant melanoma of skin|Pancreatic adenocarcinoma|Small cell lung carcinoma|Acute myeloid leukemia|Adrenal cortex carcinoma|Carcinoma of esophagus|Neoplasm of brain|Hepatocellular carcinoma|Lung adenocarcinoma|Malignant neoplasm of body of uterus|Breast neoplasm|Neoplasm of the large intestine|Ovarian serous cystadenocarcinoma|Brainstem glioma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome
  • rs1057519976Uncertain significancesingle nucleotide variantCarcinoma of esophagus|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Prostate adenocarcinoma|Breast neoplasm|Neoplasm of the large intestine|Adrenal cortex carcinoma|Neoplasm of brain|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Squamous cell lung carcinoma|Li-Fraumeni syndrome|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1
  • rs1057519978Uncertain significancesingle nucleotide variantLung adenocarcinoma|Neoplasm of brain|Acute myeloid leukemia|Multiple myeloma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Malignant neoplasm of body of uterus|Renal cell carcinoma, papillary, 1|Prostate adenocarcinoma|Breast neoplasm|Pancreatic adenocarcinoma|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome
  • rs1057519984Uncertain significancesingle nucleotide variantOvarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Breast neoplasm|Malignant melanoma of skin|Squamous cell carcinoma of the skin|Uterine carcinosarcoma|Lung adenocarcinoma|Glioblastoma|Neuroblastoma|B-cell chronic lymphocytic leukemia|Renal cell carcinoma, papillary, 1|Malignant neoplasm of body of uterus|Squamous cell lung carcinoma|Pancreatic adenocarcinoma|Hepatocellular carcinoma|Multiple myeloma|Gastric adenocarcinoma|Squamous cell carcinoma of the head and neck|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs1057519985Uncertain significancesingle nucleotide variantSmall cell lung carcinoma|Carcinoma of esophagus|Malignant melanoma of skin|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Lung adenocarcinoma|Squamous cell carcinoma of the skin|Gastric adenocarcinoma|Pancreatic adenocarcinoma|Ovarian serous cystadenocarcinoma|Acute myeloid leukemia|Breast neoplasm|Neoplasm of brain|Hepatocellular carcinoma|Li-Fraumeni syndrome
  • rs1057519994Uncertain significancesingle nucleotide variantAcute myeloid leukemia|Carcinoma of esophagus|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Neoplasm of brain|Uterine carcinosarcoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Multiple myeloma|Gastric adenocarcinoma|Neoplasm of the large intestine|Lung adenocarcinoma|Glioblastoma|B-cell chronic lymphocytic leukemia|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Li-Fraumeni syndrome
  • rs1057519995Uncertain significancesingle nucleotide variantNeoplasm of brain|Lung adenocarcinoma|Breast neoplasm|Glioblastoma|Carcinoma of esophagus|B-cell chronic lymphocytic leukemia|Pancreatic adenocarcinoma|Neoplasm of ovary|Li-Fraumeni syndrome
  • rs1057520000Uncertain significancesingle nucleotide variantPancreatic adenocarcinoma|Carcinoma of esophagus|Hepatocellular carcinoma|Malignant melanoma of skin|Ovarian serous cystadenocarcinoma|Transitional cell carcinoma of the bladder|Neoplasm of the large intestine|Squamous cell lung carcinoma|Neoplasm of brain|Breast neoplasm|Uterine carcinosarcoma|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Gastric adenocarcinoma|Adenoid cystic carcinoma|Multiple myeloma|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs1057520001Uncertain significancesingle nucleotide variantGastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Breast neoplasm|Small cell lung carcinoma|Pancreatic adenocarcinoma|Lung adenocarcinoma|Li-Fraumeni syndrome|Hepatocellular carcinoma|Carcinoma of esophagus|Acute myeloid leukemia|Li-Fraumeni syndrome 1|Neoplasm of ovary|Hereditary cancer-predisposing syndrome
  • rs1057520003Uncertain significancesingle nucleotide variantNeoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Malignant melanoma of skin|Gastric adenocarcinoma|Small cell lung carcinoma|Breast neoplasm|Glioblastoma|Brainstem glioma|Ovarian serous cystadenocarcinoma|Hepatocellular carcinoma|Neoplasm of brain|Acute myeloid leukemia|Squamous cell carcinoma of the skin|Renal cell carcinoma, papillary, 1|Lung adenocarcinoma|Adrenal cortex carcinoma|Pancreatic adenocarcinoma|Squamous cell lung carcinoma|Carcinoma of esophagus|Li-Fraumeni syndrome
  • rs1057520004Uncertain significancesingle nucleotide variantGlioblastoma|Uterine carcinosarcoma|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Ovarian serous cystadenocarcinoma|Squamous cell carcinoma of the skin|Carcinoma of esophagus|Breast neoplasm|Neoplasm of brain|Lung adenocarcinoma|Pancreatic adenocarcinoma|Li-Fraumeni syndrome
  • rs1057520005Uncertain significancesingle nucleotide variantOvarian serous cystadenocarcinoma|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Lung adenocarcinoma|Malignant melanoma of skin|Hepatocellular carcinoma|Gastric adenocarcinoma|Prostate adenocarcinoma|Neoplasm of brain|Small cell lung carcinoma|Breast neoplasm|Li-Fraumeni syndrome|Lip and oral cavity carcinoma
  • rs121912663Uncertain significancesingle nucleotide variantLi-Fraumeni syndrome 1|Hereditary cancer-predisposing syndrome
  • rs138729528Uncertain significancesingle nucleotide variantPancreatic adenocarcinoma|Malignant melanoma of skin|Lung adenocarcinoma|Gastric adenocarcinoma|Medulloblastoma|Brainstem glioma|Glioblastoma|Prostate adenocarcinoma|Hepatocellular carcinoma|B-cell chronic lymphocytic leukemia|Uterine carcinosarcoma|Neoplasm of the large intestine|Squamous cell lung carcinoma|Squamous cell carcinoma of the head and neck|Gallbladder carcinoma|Transitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Ovarian serous cystadenocarcinoma|Breast neoplasm|Neoplasm of brain|Carcinoma of esophagus|Nasopharyngeal neoplasm|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs141402957Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs28934577Uncertain significancesingle nucleotide variantLi-Fraumeni-like syndrome|Li-Fraumeni syndrome|Neoplasm of ovary
  • rs371524413Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Squamous cell carcinoma of the head and neck|Hereditary breast ovarian cancer syndrome|Li-Fraumeni syndrome 1|Familial cancer of breast
  • rs587782177Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs587782329Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Carcinoma of esophagus|Malignant neoplasm of body of uterus|Lung adenocarcinoma|Uterine carcinosarcoma|Gastric adenocarcinoma|Ovarian serous cystadenocarcinoma|Glioblastoma|Squamous cell carcinoma of the skin|Squamous cell lung carcinoma|Medulloblastoma|Hepatocellular carcinoma|Pancreatic adenocarcinoma|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Prostate adenocarcinoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs786201968Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs786203071Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Gastric adenocarcinoma|Hepatocellular carcinoma|Malignant neoplasm of body of uterus|Squamous cell carcinoma of the head and neck|Transitional cell carcinoma of the bladder|Breast neoplasm|Lung adenocarcinoma|Ovarian serous cystadenocarcinoma|Neoplasm of ovary|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876659675Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|B-cell chronic lymphocytic leukemia|Glioblastoma|Pancreatic adenocarcinoma|Breast neoplasm|Carcinoma of esophagus|Lung adenocarcinoma|Neoplasm of brain|Li-Fraumeni syndrome|Li-Fraumeni syndrome 1
  • rs876660333Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Transitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Breast neoplasm|Multiple myeloma|Neoplasm of the large intestine|Lung adenocarcinoma|Pancreatic adenocarcinoma|Renal cell carcinoma, papillary, 1|Medulloblastoma|Squamous cell carcinoma of the skin|Squamous cell carcinoma of the head and neck

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.