Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519942
rs1057519942
PIK3CA
CUI: C4024297
Disease: Abnormality of the hairline
Abnormality of the hairline 		A 0.700 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
dbSNP: rs1057519942
rs1057519942
PIK3CA
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		A 0.700 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
dbSNP: rs1057519942
rs1057519942
PIK3CA
CUI: C0266166
Disease: Congenital duplication of intestine
Congenital duplication of intestine 		A 0.700 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
dbSNP: rs1057519942
rs1057519942
PIK3CA
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		A 0.700 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
dbSNP: rs1057519942
rs1057519942
PIK3CA
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		A 0.700 CausalMutation CLINVAR Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 31568861

2019
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs1057519927
rs1057519927
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs1057519927
rs1057519927
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 CausalMutation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
CUI: C1849265
Disease: Overgrowth
Overgrowth 		G 0.700 GeneticVariation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.740 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.730 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		A 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		C 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016