Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
G 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. 22046346 2011
dbSNP: rs121913470
rs121913470
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C1458155
Disease:
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR EXEL-7647 inhibits mutant forms of ErbB2 associated with lapatinib resistance and neoplastic transformation. 18413839 2008