Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934574
rs28934574
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner. 29581140 2018
dbSNP: rs587780070
rs587780070
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Gestational choriocarcinoma associated with a germline TP53 mutation. 28477316 2018
dbSNP: rs587780070
rs587780070
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 28369373 2018
dbSNP: rs28934574
rs28934574
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 26911350 2017
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 27374712 2017
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770 2017
dbSNP: rs11540652
rs11540652
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. 26822237 2016
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Tetramer formation of tumor suppressor protein p53: Structure, function, and applications. 26572807 2016
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Occurrence of Neuroblastoma among TP53 p.R337H Carriers. 26452166 2016
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. 27223487 2016
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR The Inherited p53 Mutation in the Brazilian Population. 27663983 2016
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006118
Disease:
Brain Neoplasms
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs28934575
rs28934575
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
dbSNP: rs78378222
rs78378222
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0007117
Disease:
Basal cell carcinoma
0.800 GeneticVariation GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2016
dbSNP: rs78378222
rs78378222
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0007117
Disease:
Basal cell carcinoma
0.800 GeneticVariation GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
dbSNP: rs28934574
rs28934574
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 24573247 2015
dbSNP: rs28934574
rs28934574
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
dbSNP: rs28934574
rs28934574
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290 2015
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies. 25787918 2015
dbSNP: rs28934578
rs28934578
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR A common p53 mutation (R175H) activates c-Met receptor tyrosine kinase to enhance tumor cell invasion. 23792586 2015
dbSNP: rs28934578
rs28934578
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 24573247 2015
dbSNP: rs397514495
rs397514495
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
dbSNP: rs397514495
rs397514495
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management. 26484312 2015
dbSNP: rs587780070
rs587780070
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1835398
Disease:
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290 2015