ClinVar Miner

Variants in gene TP53

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
316 382 646 427 60 5 2 26 1516

Condition and significance breakdown #

Total conditions: 89
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Hereditary cancer-predisposing syndrome 123 115 320 315 26 0 0 0 857
Li-Fraumeni syndrome 103 52 402 135 11 0 0 0 684
not provided 67 59 140 16 12 0 0 1 287
Ovarian Neoplasms 87 137 0 0 0 0 0 0 224
not specified 3 6 54 123 36 0 0 14 214
Neoplasm of the breast 3 191 0 0 0 0 0 3 197
Lung adenocarcinoma 0 193 0 0 0 0 0 0 193
Ovarian Serous Cystadenocarcinoma 0 185 0 0 0 0 0 0 185
Squamous cell carcinoma of the head and neck 0 179 0 0 0 0 0 0 179
Pancreatic adenocarcinoma 0 175 0 0 0 0 0 0 175
Carcinoma of esophagus 0 163 0 0 0 0 0 0 163
Neoplasm of brain 0 162 0 0 0 0 0 0 162
Neoplasm of the large intestine 0 160 0 0 0 0 0 0 160
Hepatocellular carcinoma 2 157 0 0 0 0 0 0 159
Adenocarcinoma of stomach 0 157 0 0 0 0 0 0 157
Squamous cell lung carcinoma 0 152 0 0 0 0 0 0 152
Li-Fraumeni syndrome 1 29 13 53 35 6 0 0 0 131
Glioblastoma 0 120 0 0 0 0 0 0 120
Transitional cell carcinoma of the bladder 0 119 0 0 0 0 0 0 119
Uterine Carcinosarcoma 0 111 0 0 0 0 0 0 111
Malignant neoplasm of body of uterus 0 108 0 0 0 0 0 0 108
Malignant melanoma of skin 0 92 0 0 0 0 0 0 92
Small cell lung cancer 0 77 0 0 0 0 0 0 77
Squamous cell carcinoma of the skin 0 76 0 0 0 0 0 0 76
Adenocarcinoma of prostate 0 75 0 0 0 0 0 0 75
Multiple myeloma 0 64 0 0 0 0 0 0 64
Acute myeloid leukemia 0 62 0 0 0 0 0 0 62
Renal cell carcinoma, papillary, 1 0 61 0 0 0 0 0 0 61
Chronic lymphocytic leukemia 0 55 0 0 0 0 0 0 55
Brainstem glioma 0 44 0 0 0 0 0 0 44
Adrenocortical carcinoma 0 39 0 0 0 0 0 0 39
Medulloblastoma 0 20 0 0 0 0 0 0 20
Uterine cervical neoplasms 0 19 0 0 0 0 0 0 19
Non-Hodgkin lymphoma 1 15 0 0 0 0 0 0 16
Papillary renal cell carcinoma, sporadic 0 16 0 0 0 0 0 0 16
Carcinoma of gallbladder 0 14 0 0 0 0 0 0 14
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 5 1 4 0 0 0 0 0 10
Nasopharyngeal Neoplasms 0 10 0 0 0 0 0 0 10
Adenoid cystic carcinoma 0 9 0 0 0 0 0 0 9
Neuroblastoma 0 7 0 0 0 0 0 0 7
Li-Fraumeni-like syndrome 6 0 0 0 0 0 0 0 6
Neoplasm 0 6 0 0 0 0 0 0 6
Sarcoma 1 0 0 0 0 0 0 5 6
Malignant tumor of prostate 0 0 5 0 0 0 0 0 5
Myelodysplastic syndrome 0 5 0 0 0 0 0 0 5
Familial cancer of breast 1 0 1 0 0 0 0 2 4
PARP Inhibitor response 0 0 0 0 0 4 0 0 4
Neoplasm of ovary 1 0 0 0 0 0 0 2 3
Adrenocortical carcinoma, pediatric 2 0 0 0 0 0 0 0 2
BONE MARROW FAILURE SYNDROME 5 2 0 0 0 0 0 0 0 2
Breast adenocarcinoma 2 0 0 0 0 0 0 0 2
Carcinoma of colon 0 1 1 0 0 0 0 0 2
Diamond-Blackfan anemia 2 0 0 0 0 0 0 0 2
Familial colorectal cancer 2 0 0 0 0 0 0 0 2
Hereditary breast and ovarian cancer syndrome 1 1 0 0 0 0 0 0 2
Malignant Colorectal Neoplasm 1 1 0 0 0 0 0 0 2
Osteosarcoma 2 0 0 0 0 0 0 0 2
Acute megakaryoblastic leukemia; Mediastinal germ cell tumor 1 0 0 0 0 0 0 0 1
Adenocarcinoma 0 1 0 0 0 0 0 0 1
Anaplastic thyroid carcinoma 1 0 0 0 0 0 0 0 1
Astrocytoma 0 0 1 0 0 0 0 0 1
Astrocytoma, anaplastic 1 0 0 0 0 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 1 0 0 0 0 0 0 0 1
Atypical teratoid/rhabdoid tumor 1 0 0 0 0 0 0 0 1
Basal cell carcinoma, susceptibility to, 7 0 0 0 0 0 0 1 0 1
CODON 72 POLYMORPHISM 0 0 0 0 1 0 0 0 1
Carcinoma of cervix 1 0 0 0 0 0 0 0 1
Carcinoma of pancreas 1 0 0 0 0 0 0 0 1
Choroid plexus carcinoma 1 0 0 0 0 0 0 0 1
Choroid plexus papilloma 1 0 0 0 0 0 0 0 1
Colorectal polyposis; Neoplasm of the colon 0 0 1 0 0 0 0 0 1
Ganglioneuroblastoma 0 0 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 0 1
Head and Neck Neoplasms 0 1 0 0 0 0 0 0 1
Hepatoblastoma 1 0 0 0 0 0 0 0 1
Malignant tumor of esophagus 1 0 0 0 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 0 0 0 0 0 1
Nasopharyngeal carcinoma 1 0 0 0 0 0 0 0 1
Neoplasm of stomach 0 1 0 0 0 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 1 0 0 0 0 0 0 0 1
Rhabdomyosarcoma 0 0 1 0 0 0 0 0 1
See cases 0 0 0 1 0 0 0 0 1
Small cell carcinoma of the ovary, hypercalcemic type 0 1 0 0 0 0 0 0 1
Vulvar adenocarcinoma of mammary gland type 0 1 0 0 0 0 0 0 1
antineoplastic agents response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
cisplatin response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
cyclophosphamide response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
fluorouracil response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
paclitaxel response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Ambry Genetics 112 106 269 151 6 0 0 0 644
Invitae 98 36 375 116 10 0 0 0 635
Color 15 13 124 215 20 0 0 0 387
GeneDx 61 42 117 107 23 0 0 0 350
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 87 137 0 0 0 0 0 0 224
Database of Curated Mutations (DoCM) 0 206 0 0 0 0 0 3 206
Counsyl 5 10 47 35 3 0 0 0 100
Integrated Genetics/Laboratory Corporation of America 4 6 32 11 7 0 0 0 60
Quest Diagnostics Nichols Institute San Juan Capistrano 7 4 22 10 6 0 0 0 49
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 14 9 9 7 8 0 0 0 47
OMIM 39 0 0 0 1 0 2 0 42
Illumina Clinical Services Laboratory,Illumina 1 0 18 14 2 0 0 0 35
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 9 8 11 2 2 0 0 0 32
Mendelics 9 4 16 0 0 0 0 0 29
PreventionGenetics 1 0 6 7 13 0 0 0 27
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 3 2 1 9 0 0 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 5 0 4 0 0 0 16
Pathway Genomics 8 1 5 0 1 0 0 0 15
ITMI 0 0 0 0 0 0 0 14 14
Genetic Services Laboratory, University of Chicago 2 3 4 1 0 0 0 0 10
Fulgent Genetics 5 1 4 0 0 0 0 0 10
CSER_CC_NCGL; University of Washington Medical Center 2 2 3 3 0 0 0 0 10
GeneKor MSA 2 4 4 0 0 0 0 0 10
University of Washington Department of Laboratory Medicine,University of Washington 4 2 1 4 0 0 0 0 10
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 9 9
True Health Diagnostics 0 0 4 5 0 0 0 0 9
Science for Life laboratory, Karolinska Institutet 0 0 5 0 0 0 0 0 5
Genome Sciences Centre,British Columbia Cancer Agency 1 3 0 0 0 0 0 0 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 3 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 0 0 4
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 4 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 0 0 3
Richard Lifton Laboratory, Yale University School of Medicine 0 3 1 0 0 0 0 0 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 1 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 0 0 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 2 0 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 1 0 0 0 0 0 2
Clinical Molecular Diagnostic Laboratory,City of Hope National Medical Center 1 0 0 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 0 1
Genomics and Pathology Services,Washington University in St.Louis 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 0 1
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Lab,GoPath Laboratories 1 0 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 0 1
Yang An-Suei Laboratory,Academia Sinica 1 0 0 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 1 0 0 0 0 0 0 0 1
Cancer Genomics Laboratory,Texas Children's Hospital 0 1 0 0 0 0 0 0 1
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 1 0 0 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 0 1 1

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