All variants in the PIK3CA gene

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_006218.2 transcript reference sequence.

399 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-76-19T>C r.(=) p.(=) - likely benign g.178916519T>C g.179198731T>C PIK3CA(NM_006218.2):c.-76-19T>C - KCNMB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1A>G r.(?) p.(Met1?) - VUS g.178916614A>G g.179198826A>G PIK3CA(NM_006218.2):c.1A>G (p.M1?) - KCNMB3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4C>T r.(?) p.(Pro2Ser) - NA g.178916617C>T - chr3_178916617_C_T - PIK3CA_000034 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.11G>C r.(?) p.(Arg4Pro) - VUS g.178916624G>C g.179198836G>C PIK3CA(NM_006218.2):c.11G>C (p.(Arg4Pro)) - PIK3CA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.23G>A r.(?) p.(Gly8Asp) - NA g.178916636G>A - chr3_178916636_G_A - PIK3CA_000035 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.29T>A r.(?) p.(Leu10Gln) - NA g.178916642T>A - chr3_178916642_T_A - PIK3CA_000036 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.53C>T r.(?) p.(Pro18Leu) - NA g.178916666C>T - chr3_178916666_C_T - PIK3CA_000037 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.83A>G r.(?) p.(Asn28Ser) - NA g.178916696A>G - chr3_178916696_A_G - PIK3CA_000038 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.88A>G r.(?) p.(Met30Val) - NA g.178916701A>G - chr3_178916701_A_G - PIK3CA_000039 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.91A>C r.(?) p.(Ile31Leu) - NA g.178916704A>C - chr3_178916704_A_C - PIK3CA_000040 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.91A>C r.(?) p.(Ile31Leu) - NA g.178916704A>C - chr3_178916704_A_C - PIK3CA_000040 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.93A>G r.(?) p.(Ile31Met) - NA g.178916706A>G - chr3_178916706_A_G - PIK3CA_000041 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.133A>G r.(?) p.(Ile45Val) - NA g.178916746A>G - chr3_178916746_A_G - PIK3CA_000042 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - BRIDGES consortium
?/. - c.133A>G r.(?) p.(Ile45Val) - NA g.178916746A>G - chr3_178916746_A_G - PIK3CA_000042 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.140A>G r.(?) p.(His47Arg) - NA g.178916753A>G - chr3_178916753_A_G - PIK3CA_000043 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.140A>G r.(?) p.(His47Arg) - NA g.178916753A>G - chr3_178916753_A_G - PIK3CA_000043 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.158C>T r.(?) p.(Ala53Val) - NA g.178916771C>T - chr3_178916771_C_T - PIK3CA_000044 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.176A>C r.(?) p.(His59Pro) - NA g.178916789A>C - chr3_178916789_A_C - PIK3CA_000045 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - BRIDGES consortium
?/. - c.176A>C r.(?) p.(His59Pro) - NA g.178916789A>C - chr3_178916789_A_C - PIK3CA_000045 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - 0 - BRIDGES consortium
?/. - c.178C>A r.(?) p.(Gln60Lys) - NA g.178916791C>A - chr3_178916791_C_A - PIK3CA_000046 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - 0 - BRIDGES consortium
?/. - c.185T>C r.(?) p.(Leu62Pro) - NA g.178916798T>C - chr3_178916798_T_C - PIK3CA_000047 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.189A>C r.(?) p.(Gln63His) - NA g.178916802A>C - chr3_178916802_A_C - PIK3CA_000048 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.211G>A r.(?) p.(Val71Ile) - NA g.178916824G>A - chr3_178916824_G_A - PIK3CA_000049 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.211G>A r.(?) p.(Val71Ile) - NA g.178916824G>A - chr3_178916824_G_A - PIK3CA_000049 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.232G>A r.(?) p.(Glu78Lys) - NA g.178916845G>A - chr3_178916845_G_A - PIK3CA_000050 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
+/. - c.241G>A r.(?) p.(Glu81Lys) - pathogenic g.178916854G>A g.179199066G>A PIK3CA(NM_006218.2):c.241G>A (p.E81K) - PIK3CA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.260G>A r.(?) p.(Arg87Lys) - NA g.178916873G>A - chr3_178916873_G_A - PIK3CA_000051 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
+?/. - c.263G>A r.(?) p.(Arg88Gln) - likely pathogenic g.178916876G>A g.179199088G>A PIK3CA(NM_006218.2):c.263G>A (p.R88Q) - PIK3CA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.277C>T r.(?) p.(Arg93Trp) - NA g.178916890C>T - chr3_178916890_C_T - PIK3CA_000052 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
-?/. - c.287A>G r.(?) p.(Gln96Arg) - likely benign g.178916900A>G g.179199112A>G PIK3CA(NM_006218.2):c.287A>G (p.(Gln96Arg)) - KCNMB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.318C>A r.(?) p.(Gly106=) - likely benign g.178916931C>A g.179199143C>A PIK3CA(NM_006218.2):c.318C>A (p.G106=) - KCNMB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.318C>A r.(?) p.(Gly106=) - likely benign g.178916931C>A g.179199143C>A PIK3CA(NM_006218.2):c.318C>A (p.G106=) - KCNMB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.328_330del r.(?) p.(Glu110del) - likely pathogenic g.178916941_178916943del g.179199153_179199155del PIK3CA(NM_006218.2):c.328_330delGAA (p.E110del) - KCNMB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.335T>A r.(?) p.(Ile112Asn) - pathogenic g.178916948T>A g.179199160T>A - - PIK3CA_000007 de novo PIK3CA variant with no evidence for somatic mosaicism PubMed: Di Donato 2016, Journal: Di Donato 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.341A>G r.(?) p.(Asn114Ser) - NA g.178916954A>G - chr3_178916954_A_G - PIK3CA_000053 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.341A>G r.(?) p.(Asn114Ser) - NA g.178916954A>G - chr3_178916954_A_G - PIK3CA_000053 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls - 0 - BRIDGES consortium
-?/. - c.352+11A>G r.(=) p.(=) - likely benign g.178916976A>G g.179199188A>G PIK3CA(NM_006218.2):c.352+11A>G - PIK3CA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.352+11A>G r.(=) p.(=) - likely benign g.178916976A>G g.179199188A>G PIK3CA(NM_006218.2):c.352+11A>G - PIK3CA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/+ 3 c.353G>A r.(?) p.(Gly118Asp) - pathogenic (dominant) g.178917478G>A g.179199690G>A g.56168G>A - PIK3CA_000006 - PubMed: Limaye 2015 - - Somatic - - - 0 - Antonella Mendola
+?/. - c.353G>A r.(?) p.(Gly118Asp) - likely pathogenic g.178917478G>A g.179199690G>A PIK3CA(NM_006218.2):c.353G>A (p.G118D) - PIK3CA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.361A>G r.(?) p.(Ile121Val) - NA g.178917486A>G - chr3_178917486_A_G - PIK3CA_000054 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - BRIDGES consortium
-/. - c.363C>T r.(?) p.(Ile121=) - benign g.178917488C>T g.179199700C>T PIK3CA(NM_006218.2):c.363C>T (p.I121=) - PIK3CA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.363C>T r.(?) p.(Ile121=) - likely benign g.178917488C>T g.179199700C>T PIK3CA(NM_006218.2):c.363C>T (p.I121=) - PIK3CA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.363C>T r.(?) p.(Ile121=) - benign g.178917488C>T g.179199700C>T PIK3CA(NM_006218.2):c.363C>T (p.I121=) - PIK3CA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.367A>C r.(?) p.(Met123Leu) - NA g.178917492A>C - chr3_178917492_A_C - PIK3CA_000055 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.388A>G r.(?) p.(Met130Val) - NA g.178917513A>G - chr3_178917513_A_G - PIK3CA_000056 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.400C>T r.(?) p.(Pro134Ser) - NA g.178917525C>T - chr3_178917525_C_T - PIK3CA_000057 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
?/. - c.410A>G r.(?) p.(Gln137Arg) - NA g.178917535A>G - chr3_178917535_A_G - PIK3CA_000058 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.419G>A r.(?) p.(Arg140Gln) - NA g.178917544G>A - chr3_178917544_G_A - PIK3CA_000059 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
?/. - c.422G>A r.(?) p.(Arg141Lys) - NA g.178917547G>A - chr3_178917547_G_A - PIK3CA_000060 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
?/. - c.429T>G r.(?) p.(Ile143Met) - NA g.178917554T>G - chr3_178917554_T_G - PIK3CA_000061 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.436G>A r.(?) p.(Val146Ile) - NA g.178917561G>A - chr3_178917561_G_A - PIK3CA_000062 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - BRIDGES consortium
?/. - c.436G>A r.(?) p.(Val146Ile) - NA g.178917561G>A - chr3_178917561_G_A - PIK3CA_000062 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.442A>G r.(?) p.(Lys148Glu) - NA g.178917567A>G - chr3_178917567_A_G - PIK3CA_000063 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.451G>A r.(?) p.(Val151Met) - NA g.178917576G>A - chr3_178917576_G_A - PIK3CA_000064 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.451G>A r.(?) p.(Val151Met) - NA g.178917576G>A - chr3_178917576_G_A - PIK3CA_000064 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.457C>A r.(?) p.(Leu153Ile) - NA g.178917582C>A - chr3_178917582_C_A - PIK3CA_000065 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - BRIDGES consortium
?/. - c.466C>T r.(?) p.(Leu156Phe) - NA g.178917591C>T - chr3_178917591_C_T - PIK3CA_000066 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
-?/. - c.470A>G r.(?) p.(Asn157Ser) - likely benign g.178917595A>G g.179199807A>G PIK3CA(NM_006218.2):c.470A>G (p.N157S) - KCNMB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.470A>G r.(?) p.(Asn157Ser) - NA g.178917595A>G - chr3_178917595_A_G - KCNMB3_000006 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - BRIDGES consortium
?/. - c.470A>G r.(?) p.(Asn157Ser) - NA g.178917595A>G - chr3_178917595_A_G - KCNMB3_000006 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.476C>T r.(?) p.(Pro159Leu) - NA g.178917601C>T - chr3_178917601_C_T - PIK3CA_000067 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.476C>T r.(?) p.(Pro159Leu) - NA g.178917601C>T - chr3_178917601_C_T - PIK3CA_000067 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.485G>C r.(?) p.(Arg162Thr) - NA g.178917610G>C - chr3_178917610_G_C - PIK3CA_000068 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.487G>T r.(?) p.(Ala163Ser) - NA g.178917612G>T - chr3_178917612_G_T - PIK3CA_000069 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.503C>G r.(?) p.(Pro168Arg) - NA g.178917628C>G - chr3_178917628_C_G - PIK3CA_000070 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.524C>T r.(?) p.(Pro175Leu) - NA g.178917649C>T - chr3_178917649_C_T - PIK3CA_000071 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - BRIDGES consortium
?/. - c.524C>T r.(?) p.(Pro175Leu) - NA g.178917649C>T - chr3_178917649_C_T - PIK3CA_000071 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.547A>C r.(?) p.(Asn183His) - NA g.178917672A>C - chr3_178917672_A_C - PIK3CA_000072 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
-?/. - c.548A>G r.(?) p.(Asn183Ser) - likely benign g.178917673A>G g.179199885A>G PIK3CA(NM_006218.2):c.548A>G (p.N183S) - PIK3CA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.548A>G r.(?) p.(Asn183Ser) - NA g.178917673A>G - chr3_178917673_A_G - PIK3CA_000031 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.548A>G r.(?) p.(Asn183Ser) - NA g.178917673A>G - chr3_178917673_A_G - PIK3CA_000031 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
?/. - c.586G>A r.(?) p.(Val196Ile) - NA g.178919101G>A - chr3_178919101_G_A - PIK3CA_000073 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.586G>A r.(?) p.(Val196Ile) - NA g.178919101G>A - chr3_178919101_G_A - PIK3CA_000073 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.623C>G r.(?) p.(Thr208Ser) - NA g.178919138C>G - chr3_178919138_C_G - PIK3CA_000074 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/53461 controls - 0 - BRIDGES consortium
?/. - c.631A>G r.(?) p.(Ile211Val) - NA g.178919146A>G - chr3_178919146_A_G - PIK3CA_000075 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.632T>C r.(?) p.(Ile211Thr) - NA g.178919147T>C - chr3_178919147_T_C - PIK3CA_000076 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.635A>G r.(?) p.(Asn212Ser) - NA g.178919150A>G - chr3_178919150_A_G - PIK3CA_000077 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.640G>A r.(?) p.(Asp214Asn) - NA g.178919155G>A - chr3_178919155_G_A - PIK3CA_000078 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.688C>T r.(?) p.(Arg230*) - NA g.178919203C>T - chr3_178919203_C_T - PIK3CA_000079 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
?/. - c.696G>T r.(?) p.(Met232Ile) - NA g.178919211G>T - chr3_178919211_G_T - PIK3CA_000080 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.698T>C r.(?) p.(Leu233Ser) - NA g.178919213T>C - chr3_178919213_T_C - PIK3CA_000081 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.703T>C r.(?) p.(Ser235Pro) - NA g.178919218T>C - chr3_178919218_T_C - PIK3CA_000082 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.704C>T r.(?) p.(Ser235Phe) - NA g.178919219C>T - chr3_178919219_C_T - PIK3CA_000083 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.706T>C r.(?) p.(Ser236Pro) - NA g.178919221T>C - chr3_178919221_T_C - PIK3CA_000084 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.714A>C r.(?) p.(Gln238His) - NA g.178919229A>C - chr3_178919229_A_C - PIK3CA_000085 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.741G>C r.(?) p.(Gln247His) - VUS g.178919256G>C g.179201468G>C - - PIK3CA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.742G>A r.(?) p.(Gly248Ser) - NA g.178919257G>A - chr3_178919257_G_A - PIK3CA_000086 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.773A>G r.(?) p.(Asp258Gly) - NA g.178919288A>G - chr3_178919288_A_G - PIK3CA_000087 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.781T>C r.(?) p.(Phe261Leu) - NA g.178919296T>C - chr3_178919296_T_C - PIK3CA_000088 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.815A>G r.(?) p.(Tyr272Cys) - VUS g.178921333A>G g.179203545A>G - - KCNMB3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.815A>G r.(?) p.(Tyr272Cys) - NA g.178921333A>G - chr3_178921333_A_G - KCNMB3_000018 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.817A>G r.(?) p.(Ile273Val) - NA g.178921335A>G - chr3_178921335_A_G - PIK3CA_000089 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - 0 - BRIDGES consortium
?/. - c.817A>G r.(?) p.(Ile273Val) - NA g.178921335A>G - chr3_178921335_A_G - PIK3CA_000089 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.823A>G r.(?) p.(Ser275Gly) - NA g.178921341A>G - chr3_178921341_A_G - PIK3CA_000090 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.824G>A r.(?) p.(Ser275Asn) - NA g.178921342G>A - chr3_178921342_G_A - PIK3CA_000091 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.832A>G r.(?) p.(Met278Val) - NA g.178921350A>G - chr3_178921350_A_G - PIK3CA_000092 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - 0 - BRIDGES consortium
?/. - c.839G>C r.(?) p.(Gly280Ala) - NA g.178921357G>C - chr3_178921357_G_C - PIK3CA_000093 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - BRIDGES consortium
?/. - c.865G>A r.(?) p.(Ala289Thr) - NA g.178921383G>A - chr3_178921383_G_A - PIK3CA_000094 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
?/. - c.866C>T r.(?) p.(Ala289Val) - NA g.178921384C>T - chr3_178921384_C_T - PIK3CA_000095 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
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