Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929495
rs28929495
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.720 GeneticVariation BEFREE Long-term survival with erlotinib in advanced lung adenocarcinoma harboring synchronous EGFR G719S and KRAS G12C mutations. 29748019 2018
dbSNP: rs28929495
rs28929495
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.720 GeneticVariation BEFREE We herein first report G719S mutation in lung adenocarcinoma with tonsillar metastasis. 29245278 2017
dbSNP: rs28929495
rs28929495
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
T 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913444
rs121913444
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.710 GeneticVariation BEFREE The patient was diagnosed with lung adenocarcinoma with an EGFR L861Q mutation based on cytological findings. 31779047 2020
dbSNP: rs121913444
rs121913444
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913428
rs121913428
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913428
rs121913428
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913229
rs121913229
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs139429793
rs139429793
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.700 CausalMutation CLINVAR Glioma Specific Extracellular Missense Mutations in the First Cysteine Rich Region of Epidermal Growth Factor Receptor (EGFR) Initiate Ligand Independent Activation. 24212795 2011
dbSNP: rs150036236
rs150036236
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.700 CausalMutation CLINVAR Clinical implications of novel activating EGFR mutations in malignant peritoneal mesothelioma. 20942962 2010
dbSNP: rs121913229
rs121913229
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
C 0.700 GeneticVariation CLINVAR Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. 15737014 2005
dbSNP: rs1554350382
rs1554350382
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
AGTC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Intense expression of L858R in the MP component was suggested, and the MP+ patients harboring L858R were at comparatively higher risk of recurrence in the group with pN0M0 lung adenocarcinoma. 31732945 2020
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Intense expression of L858R in the MP component was suggested, and the MP+ patients harboring L858R were at comparatively higher risk of recurrence in the group with pN0M0 lung adenocarcinoma. 31732945 2020
dbSNP: rs121434568
rs121434568
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Intense expression of L858R in the MP component was suggested, and the MP+ patients harboring L858R were at comparatively higher risk of recurrence in the group with pN0M0 lung adenocarcinoma. 31732945 2020
dbSNP: rs121434569
rs121434569
Entrez Id: 1956;100507500
Gene Symbol: EGFR;EGFR-AS1
EGFR;EGFR-AS1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Lower pre-treatment PD-L1 is associated with better ORR, PFS, and higher frequency of T790M resistance in EGFR TKI-treated lung ADC patients. 31760310 2020
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Unusual synchronous double primary treatment-naïve lung adenocarcinoma harboring T790M and L858R mutations in early-stage lung cancer. 31426797 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Our study suggested the intratumoral heterogeneity of EGFR-activating mutations in lung adenocarcinoma confirmed on the single-cell level, which might be associated with EGFR-TKIs response in lung adenocarcinoma patients harboring the EGFR L858R mutation. 31014278 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE ctDNA of EGFR-TKI sensitizing mutations (mEGFR), L858R substitution and Exon 19 deletion (E19d) mutation, was evaluated using droplet digital PCR (ddPCR) in 81 patients with lung adenocarcinoma which harbored mEGFR in the corresponding tumor tissues. 31647198 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Clinicopathologic information was analyzed and EGFR mutation results were performed in initial biopsy samples.Seven patients showed transformation from ADC to SCLC, of which 6 patients were 19 del EGFR mutation, only 1 patient is L858R mutations. 30896637 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE <i>EGFR</i> exon 19 deletions and L858R mutation in exon 21 are the most common sensitive mutations in lung adenocarcinoma. 31064887 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE A 55-year-old female with EGFR mutation (L858R) was diagnosed with lung adenocarcinoma, who was responsive to first-generation EGFR-tyrosine kinase inhibitor (TKI). 31382924 2019
dbSNP: rs1057519847
rs1057519847
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Patients with advanced lung adenocarcinoma with membranous mutant EGFR (19del or 21 L858R) showed significantly longer progression-free survival than those with cytoplasmic mutant EGFR after gefitinib treatment. 31228625 2019
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Our study suggested the intratumoral heterogeneity of EGFR-activating mutations in lung adenocarcinoma confirmed on the single-cell level, which might be associated with EGFR-TKIs response in lung adenocarcinoma patients harboring the EGFR L858R mutation. 31014278 2019
dbSNP: rs1057519848
rs1057519848
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation BEFREE Patients with advanced lung adenocarcinoma with membranous mutant EGFR (19del or 21 L858R) showed significantly longer progression-free survival than those with cytoplasmic mutant EGFR after gefitinib treatment. 31228625 2019