Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
0.700 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012

dbSNP: rs104886003
rs104886003
0.700 CausalMutation CLINVAR De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223

2012

dbSNP: rs121913279
rs121913279
0.700 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222

2012

dbSNP: rs121913279
rs121913279
0.700 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544

2012

dbSNP: rs104886003
rs104886003
0.700 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

dbSNP: rs121913279
rs121913279
0.700 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550

2007

dbSNP: rs104886003
rs104886003
0.700 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

dbSNP: rs121913279
rs121913279
0.700 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

dbSNP: rs587776802
rs587776802
0.700 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678

2005

dbSNP: rs104886003
rs104886003
0.700 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004

dbSNP: rs121913279
rs121913279
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004

dbSNP: rs121913279
rs121913279
0.700 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168

2004