PIK3CA — 1526 ClinVar variants
All ClinVar germline PIK3CA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 643 flagged for review →
44 Pathogenic · 24 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 30 Conflicting · 50 Benign · 12 Benign/Likely benign · 653 Likely benign · 665 Uncertain significance
Full PIK3CA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 643
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 10
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PIK3CA p.Asn1044Ser
Pathogenic
Multiple submitters
PIK3CA constitutional syndrome
-
PIK3CA p.Asp350Asn
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.His1047Tyr
Pathogenic
Multiple submitters
hereditary breast carcinoma
- PIK3CA p.His1048Arg Pathogenic/Likely pathogenic Multiple submitters
-
PIK3CA p.His1065Tyr
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Arg115Gln
Likely pathogenic
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Gln546Glu
Likely pathogenic
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Ile273Met
Likely pathogenic
Single submitter
PIK3CA-related disorder
-
PIK3CA p.Val151Ala
Likely pathogenic
No assertion criteria
squamous cell lung carcinoma
-
PIK3CA p.Val356Ile
Pathogenic
No assertion criteria
Cowden syndrome 5
Predictors agree, ClinVar conflicts 18
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PIK3CA p.Ala1066Val
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Ala694Ser
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Arg115Leu
Conflicting
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Asn497Ser
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Asn515Ser
Conflicting
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Cys604Arg
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Gln60Lys
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Glu263Gly
Conflicting
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gly106Val
Conflicting
Single submitter
CLOVES syndrome
-
PIK3CA p.His47Arg
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Ile273Val
Conflicting
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ile311Val
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Ile841Val
Conflicting
Single submitter
PIK3CA constitutional syndrome
-
PIK3CA p.Ile889Met
Conflicting
Single submitter
Inborn genetic diseases
-
PIK3CA p.Lys187Thr
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Met1004Val
Conflicting
Single submitter
PIK3CA constitutional syndrome
-
PIK3CA p.Val71Ile
Conflicting
Single submitter
Cowden disease
-
PIK3CA p.Arg382Lys
Conflicting
No assertion criteria
Cowden syndrome 5
Predictors lean, ClinVar uncertain 407
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 407
-
PIK3CA p.Ile31Met
Uncertain significance
Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
-
PIK3CA p.Ala333Val
Uncertain significance
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Ala415Val
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ala533Gly
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Arg38Cys
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Arg398Pro
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Arg401Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Arg617Gln
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Arg683Thr
Uncertain significance
Multiple submitters
megalodactyly
-
PIK3CA p.Arg740Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Arg808Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Arg975Lys
Uncertain significance
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Asn114Ser
Uncertain significance
Multiple submitters
hemifacial myohyperplasia
-
PIK3CA p.Asn212Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Asn284Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Asn497His
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
PIK3CA p.Asn853Ser
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Asp129Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Asp625Asn
Uncertain significance
Multiple submitters
colorectal cancer
-
PIK3CA p.Cys215Tyr
Uncertain significance
Multiple submitters
Cowden syndrome 5
-
PIK3CA p.Cys844Arg
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Gln63His
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Glu35Gln
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Glu620Asp
Uncertain significance
Multiple submitters
colorectal cancer
-
PIK3CA p.Gly248Ser
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Gly512Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Gly613Val
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.His510Asn
Uncertain significance
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.His59Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ile221Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ile31Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ile492Met
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ile593Val
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Leu153Phe
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Leu156Val
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Leu279Phe
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Leu523Phe
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Leu752Pro
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Lys627Arg
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Lys884Arg
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
PIK3CA p.Met123Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Met130Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Met278Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Met304Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Met318Ile
Uncertain significance
Multiple submitters
Cowden syndrome 5
-
PIK3CA p.Met441Val
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Met583Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Phe794Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Pro134Ser
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Pro159Leu
Uncertain significance
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Pro316Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Pro592Leu
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Pro592Ser
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser332Asn
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser332Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ser482Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ser499Cys
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser501Thr
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser509Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ser681Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Thr435Ile
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Thr972Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Tyr355Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Tyr361Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Tyr691Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Val105Gly
Uncertain significance
Multiple submitters
cerebral cavernous malformation 4
-
PIK3CA p.Val146Ile
Uncertain significance
Multiple submitters
hereditary breast carcinoma
-
PIK3CA p.Val484Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Val650Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Ala150Val
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala333Ser
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala423Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala442Thr
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala511Thr
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala518Gly
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala533Thr
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala598Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Ala615Ser Uncertain significance Single submitter
-
PIK3CA p.Ala657Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala747Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala758Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala893Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala968Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala987Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg141Lys
Uncertain significance
Single submitter
Cowden disease
- PIK3CA p.Arg162Lys Uncertain significance Single submitter
-
PIK3CA p.Arg274Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Arg357Gly Uncertain significance Single submitter
-
PIK3CA p.Arg398His
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg502Gln
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg524Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg524Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg651Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg693Cys
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg693Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg740Ser
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg741Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Arg777Ser Uncertain significance Single submitter
-
PIK3CA p.Arg808Gln
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg852Gln
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg899Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Arg916His Uncertain significance Single submitter
-
PIK3CA p.Arg949Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Arg951His Uncertain significance Single submitter
-
PIK3CA p.Arg992Gln
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asn107Ser
Uncertain significance
Single submitter
Cowden syndrome 5
-
PIK3CA p.Asn114Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn142Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn157Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn157Ser
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asn183Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn183His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn319Asp
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asn319Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn347Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn380Ser
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asn388Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn444Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn497Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn677Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Asn756Ile Uncertain significance Single submitter
-
PIK3CA p.Asn763Asp
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asn763Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn763Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn785Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn826Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Asn873Ser Uncertain significance Single submitter
-
PIK3CA p.Asn885Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn918Tyr
Uncertain significance
Single submitter
PIK3CA-related disorder
-
PIK3CA p.Asn996Ser
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asp1017Val
Uncertain significance
Single submitter
PIK3CA-related disorder
-
PIK3CA p.Asp1045Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp129Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp152Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp155Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp155His
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asp300Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp431Val
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asp434Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp520Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp527Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp589Gly
Uncertain significance
Single submitter
Cowden disease
- PIK3CA p.Asp603Asn Uncertain significance Single submitter
- PIK3CA p.Asp717Glu Uncertain significance Single submitter
- PIK3CA p.Asp746Asn Uncertain significance Single submitter
-
PIK3CA p.Asp883Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp895Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp926Asn
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Cys147Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Cys215Arg
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 208
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 208
-
PIK3CA p.Glu542Lys
Pathogenic
Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
-
PIK3CA p.Glu726Lys
Pathogenic
Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
-
PIK3CA p.Gly914Arg
Pathogenic
Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
-
PIK3CA p.Thr544Asn
Uncertain significance
Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
-
PIK3CA p.Arg108His
Pathogenic/Likely pathogenic
Multiple submitters
Cowden disease
-
PIK3CA p.Arg88Gln
Pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Arg93Gln
Pathogenic
Multiple submitters
PIK3CA constitutional syndrome
-
PIK3CA p.Asn345Lys
Pathogenic
Multiple submitters
hereditary breast carcinoma
-
PIK3CA p.Asn345Ser
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Asp939Gly
Pathogenic/Likely pathogenic
Multiple submitters
Segmental undergrowth associated with mainly venous malformation with capillary component
-
PIK3CA p.Cys255Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Cys378Arg
Pathogenic
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Cys378Tyr
Pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Cys420Arg
Pathogenic
Multiple submitters
CLAPO syndrome
-
PIK3CA p.Gln546Arg
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Gln546Lys
Pathogenic
Multiple submitters
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Gln546Pro
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Glu365Lys
Pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Glu385Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Glu418Lys
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Glu453Lys
Pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Glu542Gly
Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Glu545Ala
Pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Glu545Asp
Pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Glu545Lys
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Gly1049Ser
Pathogenic
Multiple submitters
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Gly188Glu
Uncertain significance
Multiple submitters
hereditary neoplastic syndrome
-
PIK3CA p.Gly364Arg
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.His994Tyr
Uncertain significance
Multiple submitters
Cowden syndrome 5
-
PIK3CA p.Leu961Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Lys204Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Met1004Ile
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Met1043Ile
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Met288Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Met599Ile
Uncertain significance
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Met789Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Pro104Leu
Pathogenic/Likely pathogenic
Multiple submitters
Cowden disease
-
PIK3CA p.Pro377Arg
Uncertain significance
Multiple submitters
PIK3CA-related disorder
-
PIK3CA p.Pro449Leu
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Pro449Ser
Pathogenic/Likely pathogenic
Multiple submitters
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Pro449Thr
Pathogenic/Likely pathogenic
Multiple submitters
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Pro566Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Pro757Ser
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser199Tyr
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser379Cys
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser514Arg
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Ser790Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Thr1025Ala
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Trp498Cys
Uncertain significance
Multiple submitters
Cowden disease
-
PIK3CA p.Tyr1021His
Pathogenic/Likely pathogenic
Multiple submitters
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Tyr272His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIK3CA p.Val344Met
Pathogenic
Multiple submitters
PIK3CA-related disorder
- PIK3CA p.Ala1027Val Uncertain significance Single submitter
-
PIK3CA p.Ala399Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala694Thr
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ala694Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ala987Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg154Lys
Uncertain significance
Single submitter
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Arg230Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg310Cys
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg335Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg357Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg375Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg412Leu
Uncertain significance
Single submitter
Cowden disease
- PIK3CA p.Arg4Pro Uncertain significance Single submitter
-
PIK3CA p.Arg502Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg651Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg662Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Arg770Gln
Uncertain significance
Single submitter
polycystic kidney disease
-
PIK3CA p.Arg818His
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Arg899Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn1044Lys
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asn202Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn345Thr
Pathogenic
Single submitter
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Asn380Ile
Uncertain significance
Single submitter
hereditary neoplastic syndrome
-
PIK3CA p.Asn380Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn426Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn756Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asn996Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp155Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp186Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp258Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp352Val
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asp478Tyr
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Asp538Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp578Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp608Glu
Uncertain significance
Single submitter
Cowden disease
- PIK3CA p.Asp717Tyr Uncertain significance Single submitter
-
PIK3CA p.Asp717Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Asp830Val
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Cys340Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Cys368Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Cys420Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Cys472Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Cys90Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gln238Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gln546Leu
Likely pathogenic
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Gln630Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Gln731Arg Uncertain significance Single submitter
-
PIK3CA p.Gln825His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gln859His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gln871Leu
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Gln96Arg
Uncertain significance
Single submitter
cerebral cavernous malformation 4
-
PIK3CA p.Glu109Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Glu172Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Glu223Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Glu385Lys Uncertain significance Single submitter
-
PIK3CA p.Glu474Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Glu476Lys
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Glu545Gly
Pathogenic
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Glu707Lys
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Glu784Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Glu798Lys
Uncertain significance
Single submitter
Cowden disease
- PIK3CA p.Glu9Gln Uncertain significance Single submitter
- PIK3CA p.Glu9Lys Uncertain significance Single submitter
- PIK3CA p.Gly1049Arg Uncertain significance Single submitter
-
PIK3CA p.Gly1049Cys
Likely pathogenic
Single submitter
Cowden disease
- PIK3CA p.Gly106Asp Uncertain significance Single submitter
- PIK3CA p.Gly106Ser Uncertain significance Single submitter
-
PIK3CA p.Gly122Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gly256Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gly425Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gly451Arg
Likely pathogenic
Single submitter
PIK3CA-related disorder
-
PIK3CA p.Gly451Val
Conflicting
Single submitter
PIK3CA constitutional syndrome
-
PIK3CA p.Gly828Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gly828Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Gly842Ser
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Gly8Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.His362Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.His495Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.His878Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ile1019Thr
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Ile112Asn
Likely pathogenic
Single submitter
megalencephaly-capillary malformation-polymicrogyria syndrome
-
PIK3CA p.Ile348Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ile348Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ile492Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ile817Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Ile819Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PIK3CA p.Leu10Pro Uncertain significance Single submitter
-
PIK3CA p.Leu15Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Leu429Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Leu540Val
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Leu829Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Leu831Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Lys111Asn
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Lys111Glu
Conflicting
Single submitter
PIK3CA-related overgrowth spectrum
-
PIK3CA p.Lys132Asn
Uncertain significance
Single submitter
Cowden disease
-
PIK3CA p.Lys204Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Lys729Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIK3CA p.Met1043Thr
Likely pathogenic
Single submitter
PIK3CA-related disorder
All PIK3CA variants
Pathogenic 44
- p.Glu542Lys Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
- p.Glu726Lys Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
- p.Gly914Arg Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
- p.His1047Arg Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- p.Arg88Gln Multiple submitters PIK3CA-related disorder ⚠
- p.Arg93Gln Multiple submitters PIK3CA constitutional syndrome ⚠
- p.Asn1044Ser Multiple submitters PIK3CA constitutional syndrome ⚠
- p.Asn345Lys Multiple submitters hereditary breast carcinoma ⚠
- p.Asp350Gly Multiple submitters PIK3CA-related overgrowth spectrum
- p.Cys378Arg Multiple submitters Inborn genetic diseases ⚠
- p.Cys378Tyr Multiple submitters PIK3CA-related disorder ⚠
- p.Cys420Arg Multiple submitters CLAPO syndrome ⚠
- p.Gln546Lys Multiple submitters megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Glu365Lys Multiple submitters PIK3CA-related disorder ⚠
- p.Glu453del Multiple submitters PIK3CA-related disorder
- p.Glu453Lys Multiple submitters PIK3CA-related disorder ⚠
- p.Glu545Ala Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Glu545Asp Multiple submitters PIK3CA-related disorder ⚠
- p.Glu81Lys Multiple submitters CLOVES syndrome
- p.Gly1049Ser Multiple submitters megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Gly118Asp Multiple submitters PIK3CA-related disorder
- p.His1047Leu Multiple submitters Inborn genetic diseases
- p.His1047Tyr Multiple submitters hereditary breast carcinoma ⚠
- p.Val344Met Multiple submitters PIK3CA-related disorder ⚠
- p.Ala1035Thr Single submitter Cowden syndrome 5
- p.Asn345Thr Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Asp883fs Single submitter
- p.Glu545_Gln546delinsAspLys Single submitter
- p.Glu545Gly Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Glu600Lys Single submitter
- p.Pro447_Val448insTer Single submitter
- p.Tyr1021Cys Single submitter Cowden disease
- p.Asn1068_Ter1069delinsLeuIleThrGluLysIleThrAspLysMetLysLeuArg No assertion criteria lymphatic malformation
- p.Asp91Asn No assertion criteria PIK3CA-related overgrowth spectrum
- p.Glu135Lys No assertion criteria Cowden syndrome 5 ⚠
- p.Glu218Lys No assertion criteria Cowden syndrome 5
- p.Glu542Ala No assertion criteria lip and oral cavity carcinoma ⚠
- p.Glu542Gln No assertion criteria ovarian neoplasm ⚠
- p.Leu632Ter No assertion criteria Cowden syndrome 5
- p.Met1040Ile No assertion criteria urinary bladder cancer ⚠
- p.Phe83Ser No assertion criteria CLAPO syndrome
- p.Phe909Leu No assertion criteria PIK3CA-related overgrowth spectrum ⚠
- p.Thr229fs No assertion criteria colorectal cancer
- p.Val356Ile No assertion criteria Cowden syndrome 5 ⚠
Pathogenic/Likely pathogenic 24
- p.Ala1035Val Multiple submitters PIK3CA-related disorder
- p.Arg108His Multiple submitters Cowden disease ⚠
- p.Arg115Pro Multiple submitters PIK3CA-related disorder
- p.Arg93Trp Multiple submitters PIK3CA-related overgrowth spectrum
- p.Asn345Ser Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Asp350Asn Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Asp939Gly Multiple submitters Segmental undergrowth associated with mainly venous malformation with capillary component ⚠
- p.Gln546Arg Multiple submitters PIK3CA-related disorder ⚠
- p.Gln546Pro Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Glu418Lys Multiple submitters PIK3CA-related disorder ⚠
- p.Glu545Lys Multiple submitters PIK3CA-related disorder ⚠
- p.Glu970Lys Multiple submitters Cowden disease
- p.Gly364Arg Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.His1048Arg Multiple submitters ⚠
- p.His1065Tyr Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Met1004Ile Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Met1043Ile Multiple submitters PIK3CA-related disorder ⚠
- p.Pro104Leu Multiple submitters Cowden disease ⚠
- p.Pro447_Leu455del Multiple submitters PIK3CA-related overgrowth spectrum
- p.Pro449Leu Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Pro449Ser Multiple submitters megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Pro449Thr Multiple submitters megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Thr1025Ala Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Tyr1021His Multiple submitters PIK3CA-related overgrowth spectrum ⚠
Likely pathogenic 48
- p.Glu110del Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- p.Arg38His Multiple submitters overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- p.Asp725Asn Multiple submitters PIK3CA-related disorder
- p.Glu542Gly Multiple submitters Inborn genetic diseases ⚠
- c.813+2T>C Single submitter CLOVES syndrome
- p.Arg108Cys Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome
- p.Arg115Gln Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Asn1068fs Single submitter PIK3CA-related overgrowth spectrum
- p.Asn920Asp Single submitter
- p.Cys420_Pro421insArg Single submitter
- p.Cys901Phe Single submitter PIK3CA-related overgrowth spectrum
- p.Gln137fs Single submitter hereditary breast carcinoma
- p.Gln546Glu Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Gln546Leu Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Glu39Lys Single submitter PIK3CA-related overgrowth spectrum
- p.Glu453_Asp454delinsGly Single submitter PIK3CA-related overgrowth spectrum
- p.Glu453_Pro458delinsAsp Single submitter non-small cell lung carcinoma
- p.Gly1049Cys Single submitter Cowden disease ⚠
- p.Gly1050Ser Single submitter PIK3CA constitutional syndrome
- p.Gly106_Arg108del Single submitter PIK3CA-related overgrowth spectrum
- p.Gly106Arg Single submitter PIK3CA-related overgrowth spectrum
- p.Gly106Cys Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome
- p.Gly451Arg Single submitter PIK3CA-related disorder ⚠
- p.His450_Pro458del Single submitter PIK3CA-related overgrowth spectrum
- p.Ile112Asn Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Ile273Met Single submitter PIK3CA-related disorder ⚠
- p.Ile816Ser Single submitter PIK3CA-related disorder
- p.Leu422_Ala423insLeu Single submitter PIK3CA-related overgrowth spectrum
- p.Leu452_Leu456del Single submitter PIK3CA-related overgrowth spectrum
- p.Leu866Trp Single submitter Cowden syndrome 1
- p.Lys111del Single submitter PIK3CA-related overgrowth spectrum
- p.Met1043Leu Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome
- p.Met1043Thr Single submitter PIK3CA-related disorder ⚠
- p.Pro104_Asn107del Single submitter
- p.Pro449_Leu452del Single submitter PIK3CA-related overgrowth spectrum
- p.Pro539Arg Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome
- p.Ter1069Trp Single submitter
- p.Thr1025Asn Single submitter PIK3CA-related disorder ⚠
- p.Trp11_Pro18delinsSer Single submitter
- p.Tyr1021Phe Single submitter PIK3CA-related overgrowth spectrum
- p.Val105_Gly106del Single submitter PIK3CA-related overgrowth spectrum
- p.Val346Gly Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Ala1066fs No assertion criteria Arteriovenous malformation
- p.Arg108_Ile112del No assertion criteria capillary malformation-arteriovenous malformation 1
- p.Cys692fs No assertion criteria glycogen storage disease II
- p.Thr1025Ser No assertion criteria endometrial carcinoma ⚠
- p.Val151Ala No assertion criteria squamous cell lung carcinoma ⚠
- p.Val344Gly No assertion criteria ovarian neoplasm ⚠
Conflicting classifications of pathogenicity 30
- c.1059+12T>A Single submitter Cowden disease
- c.1747-6dup Single submitter Cowden disease
- c.2667-20G>A Single submitter Cowden disease
- c.2937-3T>C Single submitter Cowden disease
- p.Ala1066Val Single submitter Cowden disease ⚠
- p.Ala694Ser Single submitter Cowden disease ⚠
- p.Ala995= Single submitter Cowden disease
- p.Arg108del Single submitter PIK3CA-related overgrowth spectrum
- p.Arg115Leu Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Asn497Ser Single submitter Cowden disease ⚠
- p.Asn515Ser Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Cys604Arg Single submitter Cowden disease ⚠
- p.Gln60Lys Single submitter Cowden disease ⚠
- p.Glu263Gly Single submitter Inborn genetic diseases ⚠
- p.Gly106Val Single submitter CLOVES syndrome ⚠
- p.Gly451Val Single submitter PIK3CA constitutional syndrome ⚠
- p.Gly864= Single submitter Inborn genetic diseases
- p.His47Arg Single submitter Cowden disease ⚠
- p.Ile273Val Single submitter Inborn genetic diseases ⚠
- p.Ile311Val Single submitter Cowden disease ⚠
- p.Ile841Val Single submitter PIK3CA constitutional syndrome ⚠
- p.Ile889= Single submitter Inborn genetic diseases
- p.Ile889Met Single submitter Inborn genetic diseases ⚠
- p.Lys111Glu Single submitter PIK3CA-related overgrowth spectrum ⚠
- p.Lys187Thr Single submitter Cowden disease ⚠
- p.Met1004Val Single submitter PIK3CA constitutional syndrome ⚠
- p.Ser173= Single submitter Inborn genetic diseases
- p.Thr1052Lys Single submitter PIK3CA-related disorder ⚠
- p.Val71Ile Single submitter Cowden disease ⚠
- p.Arg382Lys No assertion criteria Cowden syndrome 5 ⚠
Benign 50
- p.Ile391Met Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- p.Lys733Arg Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- c.1059+62C>A Multiple submitters
- c.1060-17C>A Multiple submitters Cowden disease
- c.1060-18C>A Multiple submitters
- c.1060-69G>T Multiple submitters
- c.1145+54A>G Multiple submitters
- c.1146-38T>C Multiple submitters
- c.1540-55C>T Multiple submitters squamous cell lung carcinoma
- c.1664+105T>G Multiple submitters
- c.1746+42T>C Multiple submitters
- c.1747-13T>C Multiple submitters Cowden disease
- c.2015+37A>G Multiple submitters
- c.2016-12C>T Multiple submitters Cowden disease
- c.2016-27A>T Multiple submitters
- c.2016-29A>T Multiple submitters Cowden syndrome 1
- c.2188-21C>T Multiple submitters
- c.2295-57C>G Multiple submitters
- c.2495+144G>T Multiple submitters
- c.2495+73C>G Multiple submitters
- c.2666+95A>C Multiple submitters
- c.2936+32A>G Multiple submitters
- c.352+40A>G Multiple submitters squamous cell lung carcinoma
- c.*29T>C Multiple submitters Cowden disease
- c.1059+170C>A Single submitter
- c.1146-234T>C Single submitter
- c.1146-272C>A Single submitter
- c.1252-114del Single submitter
- c.1540-199T>C Single submitter
- c.1912-28C>T Single submitter
- c.2016-220A>T Single submitter
- c.2187+306A>T Single submitter
- c.2295-218_2295-216del Single submitter
- c.2295-220del Single submitter
- c.2417-36G>A Single submitter
- c.2495+163_2495+164insGACTT Single submitter
- c.2667-108G>C Single submitter
- c.2936+221A>T Single submitter
- c.352+125_352+126insTAT Single submitter
- c.562+88dup Single submitter
- c.813+79_813+85dup Single submitter
- c.813+80_813+85dup Single submitter
- c.813+81_813+85dup Single submitter
- c.813+85dup Single submitter
- c.814-15del Single submitter Cowden disease
- c.814-174G>A Single submitter
- c.814-277dup Single submitter
- c.814-309C>T Single submitter
- c.814-77_814-76insAATA Single submitter
- c.-76-203G>T Single submitter
Benign/Likely benign 12
- c.1146-30G>A Multiple submitters Cowden syndrome 1
- c.1665-44C>A Multiple submitters Cowden syndrome 5
- c.1747-9C>T Multiple submitters Cowden disease
- c.2188-7dup Multiple submitters Cowden disease
- p.Arg375= Multiple submitters Inborn genetic diseases
- p.Asp603= Multiple submitters Inborn genetic diseases
- p.Glu596= Multiple submitters Cowden disease
- p.Gly106= Multiple submitters Cowden disease
- p.Ile121= Multiple submitters Inborn genetic diseases
- p.Pro562= Multiple submitters Cowden disease
- p.Thr1025= Multiple submitters Cowden disease
- p.Thr727= Multiple submitters Cowden disease
Likely benign 653
Showing the top 300 by review status; the full set is in the sitemap.
- c.2015+9A>G Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- p.Val680= Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- c.1060-9T>C Multiple submitters Cowden disease
- c.1251+157C>T Multiple submitters
- c.1540-19A>G Multiple submitters Cowden disease
- c.1664+91C>T Multiple submitters
- c.2187+73T>C Multiple submitters
- c.2666+11T>G Multiple submitters Cowden disease
- c.2666+59C>T Multiple submitters
- c.2936+8C>T Multiple submitters Cowden disease
- c.2937-15T>C Multiple submitters Cowden disease
- c.352+11A>G Multiple submitters Cowden disease
- c.814-15C>G Multiple submitters Cowden disease
- c.814-9C>T Multiple submitters Cowden disease
- c.-76-19T>C Multiple submitters
- c.-76-34C>G Multiple submitters
- p.Ala1020= Multiple submitters Inborn genetic diseases
- p.Ala1027= Multiple submitters Cowden disease
- p.Ala1046= Multiple submitters Inborn genetic diseases
- p.Ala1066= Multiple submitters Inborn genetic diseases
- p.Ala163= Multiple submitters Cowden disease
- p.Ala504= Multiple submitters Cowden disease
- p.Ala581= Multiple submitters Inborn genetic diseases
- p.Ala869= Multiple submitters Cowden disease
- p.Ala893= Multiple submitters Cowden disease
- p.Ala968= Multiple submitters Inborn genetic diseases
- p.Arg683= Multiple submitters Inborn genetic diseases
- p.Arg777= Multiple submitters Cowden disease
- p.Arg832= Multiple submitters Inborn genetic diseases
- p.Asn145= Multiple submitters Inborn genetic diseases
- p.Asn183Ser Multiple submitters Inborn genetic diseases
- p.Asn212= Multiple submitters Inborn genetic diseases
- p.Asn521= Multiple submitters Inborn genetic diseases
- p.Asn756= Multiple submitters Inborn genetic diseases
- p.Asn803= Multiple submitters Inborn genetic diseases
- p.Asn822= Multiple submitters Inborn genetic diseases
- p.Asp1056= Multiple submitters Inborn genetic diseases
- p.Asp138= Multiple submitters Cowden disease
- p.Asp203= Multiple submitters Cowden disease
- p.Asp352= Multiple submitters Cowden disease
- p.Asp578= Multiple submitters Cowden disease
- p.Asp589= Multiple submitters Inborn genetic diseases
- p.Asp806= Multiple submitters Inborn genetic diseases
- p.Asp883= Multiple submitters Cowden disease
- p.Asp891= Multiple submitters Inborn genetic diseases
- p.Asp925= Multiple submitters Cowden disease
- p.Cys368= Multiple submitters Cowden disease
- p.Cys407= Multiple submitters Inborn genetic diseases
- p.Cys838= Multiple submitters Inborn genetic diseases
- p.Cys971= Multiple submitters Inborn genetic diseases
- p.Gln1014= Multiple submitters Cowden disease
- p.Gln238= Multiple submitters Inborn genetic diseases
- p.Gln63= Multiple submitters Cowden disease
- p.Gln634= Multiple submitters Inborn genetic diseases
- p.Gln705= Multiple submitters Cowden disease
- p.Gln738= Multiple submitters Cowden disease
- p.Gln75= Multiple submitters Inborn genetic diseases
- p.Gln809= Multiple submitters Cowden disease
- p.Gln815= Multiple submitters Cowden disease
- p.Gln825= Multiple submitters Inborn genetic diseases
- p.Glu476= Multiple submitters Inborn genetic diseases
- p.Glu545= Multiple submitters Cowden disease
- p.Glu76= Multiple submitters Cowden disease
- p.Glu784= Multiple submitters Cowden disease
- p.Glu970= Multiple submitters Inborn genetic diseases
- p.Gly1050= Multiple submitters Inborn genetic diseases
- p.Gly188= Multiple submitters Cowden disease
- p.Gly865= Multiple submitters Inborn genetic diseases
- p.Gly868= Multiple submitters Inborn genetic diseases
- p.His1048= Multiple submitters Cowden disease
- p.His1060= Multiple submitters Cowden disease
- p.His14= Multiple submitters Cowden disease
- p.His160= Multiple submitters Cowden disease
- p.His510= Multiple submitters Cowden disease
- p.His676= Multiple submitters Inborn genetic diseases
- p.His701= Multiple submitters Cowden disease
- p.His759= Multiple submitters Inborn genetic diseases
- p.Ile492= Multiple submitters Inborn genetic diseases
- p.Ile534= Multiple submitters Cowden disease
- p.Ile543= Multiple submitters Inborn genetic diseases
- p.Ile841= Multiple submitters Cowden disease
- p.Ile999= Multiple submitters Inborn genetic diseases
- p.Leu10= Multiple submitters Inborn genetic diseases
- p.Leu1036= Multiple submitters Cowden disease
- p.Leu113= Multiple submitters Cowden disease
- p.Leu177= Multiple submitters Inborn genetic diseases
- p.Leu21= Multiple submitters Inborn genetic diseases
- p.Leu233= Multiple submitters Inborn genetic diseases
- p.Leu234= Multiple submitters Inborn genetic diseases
- p.Leu285= Multiple submitters Inborn genetic diseases
- p.Leu422= Multiple submitters Inborn genetic diseases
- p.Leu49= Multiple submitters Inborn genetic diseases
- p.Leu551= Multiple submitters Cowden disease
- p.Leu58= Multiple submitters Inborn genetic diseases
- p.Leu619= Multiple submitters Cowden disease
- p.Leu654= Multiple submitters Cowden disease
- p.Leu671= Multiple submitters Inborn genetic diseases
- p.Leu699= Multiple submitters Inborn genetic diseases
- p.Leu761= Multiple submitters Cowden disease
- p.Leu807= Multiple submitters Cowden disease
- p.Leu839= Multiple submitters Inborn genetic diseases
- p.Leu877= Multiple submitters Inborn genetic diseases
- p.Leu929= Multiple submitters Inborn genetic diseases
- p.Leu997= Multiple submitters Inborn genetic diseases
- p.Lys206= Multiple submitters Cowden disease
- p.Lys416= Multiple submitters Inborn genetic diseases
- p.Lys548= Multiple submitters Inborn genetic diseases
- p.Lys723= Multiple submitters Inborn genetic diseases
- p.Lys724= Multiple submitters Inborn genetic diseases
- p.Lys973= Multiple submitters Inborn genetic diseases
- p.Lys986= Multiple submitters Cowden disease
- p.Phe139= Multiple submitters Inborn genetic diseases
- p.Phe486= Multiple submitters Cowden disease
- p.Phe70= Multiple submitters Cowden disease
- p.Pro18= Multiple submitters Cowden disease
- p.Pro421= Multiple submitters Inborn genetic diseases
- p.Pro447= Multiple submitters Inborn genetic diseases
- p.Pro5= Multiple submitters Cowden disease
- p.Pro57= Multiple submitters Inborn genetic diseases
- p.Pro754= Multiple submitters Inborn genetic diseases
- p.Ser1008= Multiple submitters Inborn genetic diseases
- p.Ser174= Multiple submitters Cowden disease
- p.Ser235= Multiple submitters Cowden disease
- p.Ser405= Multiple submitters Cowden disease
- p.Ser66= Multiple submitters Inborn genetic diseases
- p.Thr313= Multiple submitters Cowden disease
- p.Thr342= Multiple submitters Cowden disease
- p.Thr433= Multiple submitters Inborn genetic diseases
- p.Thr435= Multiple submitters Inborn genetic diseases
- p.Thr813= Multiple submitters Cowden disease
- p.Thr856= Multiple submitters Cowden disease
- p.Thr908= Multiple submitters Inborn genetic diseases
- p.Thr974= Multiple submitters Inborn genetic diseases
- p.Tyr207= Multiple submitters Cowden disease
- p.Tyr343= Multiple submitters Inborn genetic diseases
- p.Tyr56= Multiple submitters Inborn genetic diseases
- p.Tyr584= Multiple submitters Cowden disease
- p.Tyr836= Multiple submitters Cowden disease
- p.Tyr988= Multiple submitters Inborn genetic diseases
- p.Val105= Multiple submitters Cowden disease
- p.Val254= Multiple submitters Inborn genetic diseases
- p.Val71= Multiple submitters Cowden disease
- p.Val952= Multiple submitters Inborn genetic diseases
- c.1059+12T>C Single submitter Cowden disease
- c.1059+19G>A Single submitter Cowden disease
- c.1059+261T>C Single submitter
- c.1059+8C>T Single submitter
- c.1060-12T>G Single submitter Cowden disease
- c.1060-18_1060-17delinsAA Single submitter Cowden disease
- c.1060-8T>C Single submitter Cowden disease
- c.1060-8T>G Single submitter Cowden disease
- c.1145+13A>G Single submitter Cowden disease
- c.1145+14T>C Single submitter Cowden disease
- c.1145+16G>A Single submitter Cowden disease
- c.1145+19T>G Single submitter Cowden disease
- c.1145+9G>A Single submitter Cowden disease
- c.1145+9G>T Single submitter Cowden disease
- c.1146-17T>C Single submitter Cowden disease
- c.1146-4A>G Single submitter Cowden disease
- c.1146-5C>T Single submitter
- c.1251+8_1251+11del Single submitter Cowden disease
- c.1251+9T>G Single submitter Cowden disease
- c.1252-10G>A Single submitter Cowden disease
- c.1404+11T>C Single submitter Cowden disease
- c.1404+12A>C Single submitter Cowden disease
- c.1404+15G>A Single submitter Cowden disease
- c.1404+15G>T Single submitter Cowden disease
- c.1404+17C>T Single submitter Cowden disease
- c.1404+19T>G Single submitter Cowden disease
- c.1404+42_1404+44del Single submitter
- c.1405-12T>C Single submitter Cowden disease
- c.1405-14C>T Single submitter Cowden disease
- c.1405-19C>A Single submitter Cowden disease
- c.1405-8T>C Single submitter Cowden disease
- c.1539+11T>C Single submitter Cowden disease
- c.1539+17A>G Single submitter Cowden disease
- c.1540-13T>C Single submitter Cowden disease
- c.1540-20G>A Single submitter Cowden disease
- c.1540-6T>C Single submitter Cowden disease
- c.1664+18G>A Single submitter Cowden disease
- c.1664+20T>C Single submitter Cowden disease
- c.1746+10T>C Single submitter Cowden disease
- c.1746+19T>G Single submitter Cowden disease
- c.1747-11C>G Single submitter Cowden disease
- c.1747-15C>T Single submitter Cowden disease
- c.1747-17G>A Single submitter
- c.1747-3_1747-2del Single submitter Cowden disease
- c.1747-4A>G Single submitter Cowden disease
- c.1747-8A>G Single submitter Cowden disease
- c.1911+11G>T Single submitter Cowden disease
- c.1911+14A>C Single submitter Cowden disease
- c.1911+8A>G Single submitter Cowden disease
- c.1912-18T>G Single submitter Cowden disease
- c.1912-4C>G Single submitter Cowden disease
- c.2015+18C>T Single submitter Cowden disease
- c.2015+20del Single submitter Cowden disease
- c.2015+8T>C Single submitter Cowden disease
- c.2016-11G>A Single submitter Cowden disease
- c.2016-11G>C Single submitter Cowden disease
- c.2016-11G>T Single submitter Cowden disease
- c.2016-14C>A Single submitter Cowden disease
- c.2187+11_2187+12del Single submitter Cowden disease
- c.2188-15T>C Single submitter Cowden disease
- c.2188-19A>G Single submitter Cowden disease
- c.2188-7T>A Single submitter Cowden disease
- c.2188-8T>C Single submitter Cowden disease
- c.2294+20A>G Single submitter Cowden disease
- c.2295-13A>G Single submitter Cowden disease
- c.2295-15T>C Single submitter Cowden disease
- c.2295-19G>C Single submitter Cowden disease
- c.2295-8T>C Single submitter Cowden disease
- c.2295-9A>G Single submitter Cowden disease
- c.2416+10A>G Single submitter Cowden disease
- c.2416+11G>T Single submitter Cowden disease
- c.2416+213A>C Single submitter
- c.2416+285G>T Single submitter
- c.2417-13_2417-11del Single submitter Cowden disease
- c.2417-15T>C Single submitter Cowden disease
- c.2417-18A>G Single submitter Cowden disease
- c.2417-4T>A Single submitter Cowden disease
- c.2417-4T>G Single submitter Cowden disease
- c.2495+15A>C Single submitter Cowden disease
- c.2495+16G>C Single submitter Cowden disease
- c.2495+19A>C Single submitter Cowden disease
- c.2495+9C>T Single submitter Cowden disease
- c.2496-10C>T Single submitter Cowden disease
- c.2496-12C>T Single submitter Cowden disease
- c.2496-13A>T Single submitter Cowden disease
- c.2496-18G>A Single submitter Cowden disease
- c.2496-19C>T Single submitter Cowden disease
- c.2666+10A>G Single submitter Cowden disease
- c.2666+17T>C Single submitter Cowden disease
- c.2666+20C>T Single submitter Cowden disease
- c.2667-11A>G Single submitter Cowden disease
- c.2785-4A>G Single submitter Cowden disease
- c.2785-5G>T Single submitter Cowden disease
- c.2936+11G>A Single submitter Cowden disease
- c.2936+18A>G Single submitter Cowden disease
- c.2936+5_2936+7dup Single submitter
- c.2936+8C>A Single submitter Cowden disease
- c.2936+9G>A Single submitter Cowden disease
- c.2937-13T>C Single submitter Cowden disease
- c.2937-155A>G Single submitter
- c.2937-17G>A Single submitter Cowden disease
- c.2937-216T>C Single submitter
- c.2937-5T>G Single submitter
- c.352+10A>C Single submitter Cowden disease
- c.352+9C>T Single submitter Cowden disease
- c.353-17A>G Single submitter Cowden disease
- c.353-18T>C Single submitter Cowden disease
- c.353-224C>T Single submitter
- c.353-2dup Single submitter Cowden disease
- c.562+15A>C Single submitter Cowden disease
- c.562+16A>G Single submitter Cowden disease
- c.562+20A>C Single submitter Cowden disease
- c.563-16T>C Single submitter Cowden disease
- c.813+119G>A Single submitter
- c.813+15_813+16delinsAT Single submitter Cowden disease
- c.814-20G>A Single submitter Cowden disease
- c.814-304G>A Single submitter
- c.814-4A>G Single submitter Cowden disease
- c.-138C>T Single submitter Cowden syndrome 1
- c.*10del Single submitter
- c.*18T>C Single submitter
- p.Ala1035= Single submitter Inborn genetic diseases
- p.Ala120= Single submitter Inborn genetic diseases
- p.Ala150= Single submitter Inborn genetic diseases
- p.Ala222= Single submitter Inborn genetic diseases
- p.Ala314= Single submitter Inborn genetic diseases
- p.Ala399= Single submitter Inborn genetic diseases
- p.Ala400= Single submitter Inborn genetic diseases
- p.Ala423= Single submitter Inborn genetic diseases
- p.Ala442= Single submitter Inborn genetic diseases
- p.Ala496= Single submitter Inborn genetic diseases
- p.Ala511= Single submitter Inborn genetic diseases
- p.Ala533= Single submitter Inborn genetic diseases
- p.Ala598= Single submitter Cowden disease
- p.Ala615= Single submitter Inborn genetic diseases
- p.Ala694= Single submitter Inborn genetic diseases
- p.Ala747= Single submitter Cowden disease
- p.Ala758= Single submitter Cowden disease
- p.Ala902= Single submitter Inborn genetic diseases
- p.Ala907= Single submitter Inborn genetic diseases
- p.Ala990= Single submitter Inborn genetic diseases
- p.Arg115= Single submitter Inborn genetic diseases
- p.Arg140= Single submitter Inborn genetic diseases
- p.Arg154= Single submitter Inborn genetic diseases
- p.Arg162= Single submitter Inborn genetic diseases
- p.Arg19= Single submitter Inborn genetic diseases
- p.Arg226= Single submitter Cowden disease
- p.Arg230= Single submitter Inborn genetic diseases
- p.Arg281= Single submitter Inborn genetic diseases
- p.Arg349= Single submitter Inborn genetic diseases
- p.Arg357= Single submitter Cowden disease
- p.Arg38= Single submitter Inborn genetic diseases
- p.Arg401= Single submitter Cowden disease
- p.Arg412= Single submitter Cowden disease
- p.Arg524= Single submitter Inborn genetic diseases
- p.Arg537= Single submitter Inborn genetic diseases
- p.Arg54= Single submitter Inborn genetic diseases
Uncertain significance 665
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ile31Met Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
- p.Thr544Asn Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
- c.2187+3G>A Multiple submitters Cowden disease
- p.Ala333Val Multiple submitters PIK3CA-related disorder ⚠
- p.Ala415Val Multiple submitters Cowden disease ⚠
- p.Ala533Gly Multiple submitters Cowden disease ⚠
- p.Arg38Cys Multiple submitters Cowden disease ⚠
- p.Arg398Pro Multiple submitters Cowden disease ⚠
- p.Arg401Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg537Gln Multiple submitters Cowden syndrome 5
- p.Arg617Gln Multiple submitters Cowden disease ⚠
- p.Arg683Thr Multiple submitters megalodactyly ⚠
- p.Arg740Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg808Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg899His Multiple submitters Inborn genetic diseases
- p.Arg949Ter Multiple submitters Cowden disease
- p.Arg975Lys Multiple submitters PIK3CA-related disorder ⚠
- p.Asn114Ser Multiple submitters hemifacial myohyperplasia ⚠
- p.Asn212Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn284Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn497His Multiple submitters hereditary neoplastic syndrome ⚠
- p.Asn853Ser Multiple submitters Cowden disease ⚠
- p.Asp129Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp478Gly Multiple submitters Inborn genetic diseases
- p.Asp527Gly Multiple submitters Inborn genetic diseases
- p.Asp625Asn Multiple submitters colorectal cancer ⚠
- p.Cys215Tyr Multiple submitters Cowden syndrome 5 ⚠
- p.Cys255Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys844Arg Multiple submitters Cowden disease ⚠
- p.Gln63His Multiple submitters Cowden disease ⚠
- p.Glu35Gln Multiple submitters Cowden disease ⚠
- p.Glu385Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu620Asp Multiple submitters colorectal cancer ⚠
- p.Gly188Glu Multiple submitters hereditary neoplastic syndrome ⚠
- p.Gly248Ser Multiple submitters Cowden disease ⚠
- p.Gly411Ala Multiple submitters Inborn genetic diseases
- p.Gly512Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly613Val Multiple submitters Cowden disease ⚠
- p.His510Asn Multiple submitters PIK3CA-related disorder ⚠
- p.His59Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His994Tyr Multiple submitters Cowden syndrome 5 ⚠
- p.Ile221Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile31Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile492Met Multiple submitters Cowden disease ⚠
- p.Ile593Val Multiple submitters Cowden disease ⚠
- p.Leu153Phe Multiple submitters Cowden disease ⚠
- p.Leu156Val Multiple submitters Cowden disease ⚠
- p.Leu15Phe Multiple submitters Cowden disease
- p.Leu279Phe Multiple submitters Cowden disease ⚠
- p.Leu523Phe Multiple submitters Cowden disease ⚠
- p.Leu752Pro Multiple submitters Cowden disease ⚠
- p.Leu961Ser Multiple submitters Inborn genetic diseases ⚠
- p.Lys204Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys627Arg Multiple submitters Cowden disease ⚠
- p.Lys884Arg Multiple submitters hereditary breast carcinoma ⚠
- p.Met123Val Multiple submitters Inborn genetic diseases ⚠
- p.Met130Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met1Val Multiple submitters megalencephaly-capillary malformation-polymicrogyria syndrome
- p.Met278Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met288Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met304Val Multiple submitters Inborn genetic diseases ⚠
- p.Met318Ile Multiple submitters Cowden syndrome 5 ⚠
- p.Met441Val Multiple submitters Cowden disease ⚠
- p.Met583Val Multiple submitters Inborn genetic diseases ⚠
- p.Met599Ile Multiple submitters PIK3CA-related overgrowth spectrum ⚠
- p.Met599Val Multiple submitters Inborn genetic diseases
- p.Met789Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe794Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Pro134Ser Multiple submitters Cowden disease ⚠
- p.Pro159Leu Multiple submitters PIK3CA-related disorder ⚠
- p.Pro316Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro377Arg Multiple submitters PIK3CA-related disorder ⚠
- p.Pro566Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro592Leu Multiple submitters Cowden disease ⚠
- p.Pro592Ser Multiple submitters Cowden disease ⚠
- p.Pro757Ser Multiple submitters Cowden disease ⚠
- p.Ser199Tyr Multiple submitters Cowden disease ⚠
- p.Ser332Asn Multiple submitters Cowden disease ⚠
- p.Ser332Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser379Cys Multiple submitters Cowden disease ⚠
- p.Ser482Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser499Cys Multiple submitters Cowden disease ⚠
- p.Ser501Thr Multiple submitters Cowden disease ⚠
- p.Ser509Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser514Arg Multiple submitters Cowden disease ⚠
- p.Ser681Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser790Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr435Ile Multiple submitters Cowden disease ⚠
- p.Thr972Ile Multiple submitters Inborn genetic diseases ⚠
- p.Trp498Cys Multiple submitters Cowden disease ⚠
- p.Tyr167Cys Multiple submitters hereditary neoplastic syndrome
- p.Tyr272His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr355Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr361Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr691Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val105Gly Multiple submitters cerebral cavernous malformation 4 ⚠
- p.Val146Ile Multiple submitters hereditary breast carcinoma ⚠
- p.Val484Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val650Ala Multiple submitters Inborn genetic diseases ⚠
- c.1145+4A>G Single submitter Cowden disease
- c.1146-3T>C Single submitter Cowden disease
- c.1251+1G>C Single submitter Cowden disease
- c.1251+3A>G Single submitter Cowden disease
- c.1251+5del Single submitter Cowden disease
- c.1252-10G>T Single submitter
- c.1404+3A>T Single submitter Cowden disease
- c.1404+6G>A Single submitter Cowden disease
- c.1540-1G>T Single submitter Cowden disease
- c.1664+3A>G Single submitter Cowden disease
- c.1664+6T>G Single submitter Cowden disease
- c.2015+4A>C Single submitter Cowden disease
- c.2016-3T>C Single submitter Cowden disease
- c.2187+4T>C Single submitter Cowden disease
- c.2294+5T>C Single submitter Cowden disease
- c.2294+7T>C Single submitter
- c.2416+6G>A Single submitter Cowden disease
- c.2666+3G>A Single submitter Cowden disease
- c.2666+3G>C Single submitter
- c.2784+5T>C Single submitter Cowden disease
- c.2936+6C>T Single submitter Cowden disease
- c.352+6A>G Single submitter Cowden disease
- c.563-14T>A Single submitter Cowden disease
- c.563-3T>C Single submitter Cowden disease
- c.813+4A>G Single submitter hereditary neoplastic syndrome
- p.Ala1027Val Single submitter ⚠
- p.Ala150Val Single submitter Cowden disease ⚠
- p.Ala333Ser Single submitter Cowden disease ⚠
- p.Ala399Thr Single submitter Inborn genetic diseases ⚠
- p.Ala423Thr Single submitter Inborn genetic diseases ⚠
- p.Ala442Pro Single submitter Cowden disease
- p.Ala442Thr Single submitter Cowden disease ⚠
- p.Ala511Thr Single submitter Cowden disease ⚠
- p.Ala518Gly Single submitter Cowden disease ⚠
- p.Ala533Thr Single submitter Cowden disease ⚠
- p.Ala598Asp Single submitter Inborn genetic diseases ⚠
- p.Ala615Ser Single submitter ⚠
- p.Ala657Val Single submitter Inborn genetic diseases ⚠
- p.Ala694Thr Single submitter Cowden disease ⚠
- p.Ala694Val Single submitter Inborn genetic diseases ⚠
- p.Ala747Thr Single submitter Inborn genetic diseases ⚠
- p.Ala758Thr Single submitter Inborn genetic diseases ⚠
- p.Ala893Val Single submitter Inborn genetic diseases ⚠
- p.Ala968Gly Single submitter Inborn genetic diseases ⚠
- p.Ala987Ser Single submitter Inborn genetic diseases ⚠
- p.Ala987Thr Single submitter Inborn genetic diseases ⚠
- p.Ala990Gly Single submitter Cowden disease
- p.Arg141Lys Single submitter Cowden disease ⚠
- p.Arg154Lys Single submitter megalencephaly-capillary malformation-polymicrogyria syndrome ⚠
- p.Arg162Lys Single submitter ⚠
- p.Arg230Gly Single submitter Inborn genetic diseases ⚠
- p.Arg274Ile Single submitter Inborn genetic diseases ⚠
- p.Arg310Cys Single submitter Cowden disease ⚠
- p.Arg335fs Single submitter Cowden disease
- p.Arg335Ser Single submitter Inborn genetic diseases ⚠
- p.Arg357Gln Single submitter Inborn genetic diseases ⚠
- p.Arg357Gly Single submitter ⚠
- p.Arg375Ser Single submitter Inborn genetic diseases ⚠
- p.Arg398His Single submitter Cowden disease ⚠
- p.Arg401Ter Single submitter
- p.Arg412Leu Single submitter Cowden disease ⚠
- p.Arg4Pro Single submitter ⚠
- p.Arg502Gln Single submitter Cowden disease ⚠
- p.Arg502Gly Single submitter Inborn genetic diseases ⚠
- p.Arg502Ter Single submitter
- p.Arg524Gly Single submitter Inborn genetic diseases ⚠
- p.Arg524Ser Single submitter Inborn genetic diseases ⚠
- p.Arg612Ter Single submitter Cowden disease
- p.Arg651Ser Single submitter Inborn genetic diseases ⚠
- p.Arg651Thr Single submitter Inborn genetic diseases ⚠
- p.Arg662Met Single submitter Inborn genetic diseases ⚠
- p.Arg693Cys Single submitter Cowden disease ⚠
- p.Arg693Leu Single submitter Inborn genetic diseases ⚠
- p.Arg740Ser Single submitter Cowden disease ⚠
- p.Arg741Gln Single submitter Inborn genetic diseases ⚠
- p.Arg741Leu Single submitter Inborn genetic diseases
- p.Arg741Ter Single submitter
- p.Arg770Gln Single submitter polycystic kidney disease ⚠
- p.Arg777Ser Single submitter ⚠
- p.Arg808Gln Single submitter Cowden disease ⚠
- p.Arg818His Single submitter Cowden disease ⚠
- p.Arg852Gln Single submitter Cowden disease ⚠
- p.Arg852Ter Single submitter Cowden disease
- p.Arg899Cys Single submitter Cowden disease
- p.Arg899Gly Single submitter Inborn genetic diseases ⚠
- p.Arg899Leu Single submitter Inborn genetic diseases ⚠
- p.Arg916His Single submitter ⚠
- p.Arg949Pro Single submitter Inborn genetic diseases ⚠
- p.Arg951His Single submitter ⚠
- p.Arg992Gln Single submitter Cowden disease ⚠
- p.Asn1044Lys Single submitter Cowden disease ⚠
- p.Asn1068Ile Single submitter Cowden disease
- p.Asn107Ser Single submitter Cowden syndrome 5 ⚠
- p.Asn114Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn142Ser Single submitter Inborn genetic diseases ⚠
- p.Asn157Asp Single submitter Inborn genetic diseases ⚠
- p.Asn157Ser Single submitter Cowden disease ⚠
- p.Asn183Asp Single submitter Inborn genetic diseases ⚠
- p.Asn183His Single submitter Inborn genetic diseases ⚠
- p.Asn202Ser Single submitter Inborn genetic diseases ⚠
- p.Asn284fs Single submitter Cowden disease
- p.Asn319Asp Single submitter Cowden disease ⚠
- p.Asn319Ile Single submitter Inborn genetic diseases ⚠
- p.Asn331fs Single submitter
- p.Asn347Ile Single submitter Inborn genetic diseases ⚠
- p.Asn380Ile Single submitter hereditary neoplastic syndrome ⚠
- p.Asn380Lys Single submitter Inborn genetic diseases ⚠
- p.Asn380Ser Single submitter Cowden disease ⚠
- p.Asn388Ile Single submitter Inborn genetic diseases ⚠
- p.Asn426Ser Single submitter Inborn genetic diseases ⚠
- p.Asn444Thr Single submitter Inborn genetic diseases ⚠
- p.Asn497Asp Single submitter Inborn genetic diseases ⚠
- p.Asn677Ser Single submitter Inborn genetic diseases ⚠
- p.Asn714_Leu715insTer Single submitter Cowden disease
- p.Asn756Ile Single submitter ⚠
- p.Asn756Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn763Asp Single submitter Cowden disease ⚠
- p.Asn763Lys Single submitter Inborn genetic diseases ⚠
- p.Asn763Ser Single submitter Inborn genetic diseases ⚠
- p.Asn785Lys Single submitter Inborn genetic diseases ⚠
- p.Asn826Asp Single submitter Inborn genetic diseases
- p.Asn826Ser Single submitter Inborn genetic diseases ⚠
- p.Asn873Ser Single submitter ⚠
- p.Asn885Lys Single submitter Inborn genetic diseases ⚠
- p.Asn918Tyr Single submitter PIK3CA-related disorder ⚠
- p.Asn996Ile Single submitter Inborn genetic diseases ⚠
- p.Asn996Ser Single submitter Cowden disease ⚠
- p.Asp1017Val Single submitter PIK3CA-related disorder ⚠
- p.Asp1045Asn Single submitter
- p.Asp1045Glu Single submitter Inborn genetic diseases ⚠
- p.Asp129Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp152Val Single submitter Inborn genetic diseases ⚠
- p.Asp155Glu Single submitter Inborn genetic diseases ⚠
- p.Asp155Gly Single submitter Inborn genetic diseases ⚠
- p.Asp155His Single submitter Cowden disease ⚠
- p.Asp186Gly Single submitter Inborn genetic diseases ⚠
- p.Asp258Ala Single submitter Inborn genetic diseases ⚠
- p.Asp300Glu Single submitter Inborn genetic diseases ⚠
- p.Asp352Val Single submitter Cowden disease ⚠
- p.Asp431Val Single submitter Cowden disease ⚠
- p.Asp434Glu Single submitter Inborn genetic diseases ⚠
- p.Asp478Tyr Single submitter Cowden disease ⚠
- p.Asp478Val Single submitter Inborn genetic diseases
- p.Asp488Tyr Single submitter Inborn genetic diseases
- p.Asp520Glu Single submitter Inborn genetic diseases ⚠
- p.Asp527Glu Single submitter Inborn genetic diseases ⚠
- p.Asp538Glu Single submitter Inborn genetic diseases ⚠
- p.Asp578Gly Single submitter Inborn genetic diseases ⚠
- p.Asp589Gly Single submitter Cowden disease ⚠
- p.Asp603Asn Single submitter ⚠
- p.Asp608Glu Single submitter Cowden disease ⚠
- p.Asp717Glu Single submitter ⚠
- p.Asp717Tyr Single submitter ⚠
- p.Asp717Val Single submitter Inborn genetic diseases ⚠
- p.Asp725Gly Single submitter
- p.Asp746Asn Single submitter ⚠
- p.Asp830Val Single submitter Cowden disease ⚠
- p.Asp883Asn Single submitter Inborn genetic diseases ⚠
- p.Asp895Glu Single submitter Inborn genetic diseases ⚠
- p.Asp926Asn Single submitter Cowden disease ⚠
- p.Cys147Gly Single submitter Inborn genetic diseases ⚠
- p.Cys215Arg Single submitter Inborn genetic diseases ⚠
- p.Cys242fs Single submitter
- p.Cys301Gly Single submitter Inborn genetic diseases ⚠
- p.Cys340Arg Single submitter Inborn genetic diseases ⚠
- p.Cys368Arg Single submitter Inborn genetic diseases ⚠
- p.Cys368Ser Single submitter Inborn genetic diseases ⚠
- p.Cys368Trp Single submitter Inborn genetic diseases ⚠
- p.Cys368Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys420Trp Single submitter Inborn genetic diseases ⚠
- p.Cys472Arg Single submitter Inborn genetic diseases ⚠
- p.Cys838Ser Single submitter Cowden disease ⚠
- p.Cys90Arg Single submitter Inborn genetic diseases ⚠
- p.Cys971Gly Single submitter Inborn genetic diseases ⚠
- p.Gln238Arg Single submitter Inborn genetic diseases ⚠
- p.Gln374Arg Single submitter Inborn genetic diseases
- p.Gln60Pro Single submitter Inborn genetic diseases ⚠
- p.Gln630Arg Single submitter Inborn genetic diseases ⚠
- p.Gln63Arg Single submitter Inborn genetic diseases ⚠
- p.Gln661Glu Single submitter Inborn genetic diseases
- p.Gln728Arg Single submitter Inborn genetic diseases
- p.Gln731Arg Single submitter ⚠
- p.Gln738His Single submitter Inborn genetic diseases ⚠
- p.Gln795His Single submitter Inborn genetic diseases ⚠
- p.Gln825His Single submitter Inborn genetic diseases ⚠
- p.Gln827Glu Single submitter Inborn genetic diseases ⚠
- p.Gln859His Single submitter Inborn genetic diseases ⚠
- p.Gln871Leu Single submitter Cowden disease ⚠
- p.Gln958Lys Single submitter Cowden disease ⚠
- p.Gln96Arg Single submitter cerebral cavernous malformation 4 ⚠
- p.Gln993Arg Single submitter Inborn genetic diseases ⚠
- p.Glu1037Asp Single submitter Inborn genetic diseases ⚠
- p.Glu109Asp Single submitter Cowden disease ⚠
- p.Glu109Lys Single submitter Inborn genetic diseases ⚠
- p.Glu172Asp Single submitter Inborn genetic diseases ⚠
- p.Glu223Gly Single submitter Inborn genetic diseases ⚠
- p.Glu223Lys Single submitter Inborn genetic diseases ⚠
- p.Glu23Asp Single submitter Inborn genetic diseases ⚠
- p.Glu385Lys Single submitter ⚠
- p.Glu474Asp Single submitter Inborn genetic diseases ⚠
- p.Glu476Lys Single submitter Cowden disease ⚠