Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
PIK3CA
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs397514565
rs397514565
PIK3CA
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs863225460
rs863225460
PIK3CA
0.800 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs104886003
rs104886003
PIK3CA
0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs397514565
rs397514565
PIK3CA
0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs587776932
rs587776932
PIK3CA
A 0.800 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs863225460
rs863225460
PIK3CA
0.800 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs104886003
rs104886003
PIK3CA
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
0.800 GeneticVariation UNIPROT

dbSNP: rs121913281
rs121913281
PIK3CA
T 0.800 CausalMutation CLINVAR

dbSNP: rs397514565
rs397514565
PIK3CA
A 0.800 CausalMutation CLINVAR

dbSNP: rs587776932
rs587776932
PIK3CA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs587776932
rs587776932
PIK3CA
0.800 GeneticVariation UNIPROT

dbSNP: rs863225460
rs863225460
PIK3CA
A 0.800 CausalMutation CLINVAR

dbSNP: rs397514605
rs397514605
AKT3
C 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs587776934
rs587776934
PIK3R2
A 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs1064793732
rs1064793732
PIK3CA
0.700 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs397517202
rs397517202
PIK3CA
0.700 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
dbSNP: rs397514605
rs397514605
AKT3
C 0.700 CausalMutation CLINVAR Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. 25416470

2015
dbSNP: rs397514605
rs397514605
AKT3
C 0.700 CausalMutation CLINVAR Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. 25523067

2015
dbSNP: rs587776934
rs587776934
PIK3R2
A 0.700 CausalMutation CLINVAR Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. 26520804

2015
dbSNP: rs397514605
rs397514605
AKT3
C 0.700 CausalMutation CLINVAR AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724

2014
dbSNP: rs587776934
rs587776934
PIK3R2
A 0.700 CausalMutation CLINVAR Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 24497998

2014
dbSNP: rs1064793732
rs1064793732
PIK3CA
0.700 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs397514605
rs397514605
AKT3
C 0.700 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012