ClinVar Miner

List of variants in gene PIK3CA reported as uncertain significance for Cowden syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148 0.00032
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074 0.00009
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser) rs200404201 0.00006
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) rs201269904 0.00006
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934 0.00005
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389 0.00005
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379 0.00004
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val) rs371727887 0.00004
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val) rs201238717 0.00004
NM_006218.4(PIK3CA):c.1139A>G (p.Asn380Ser) rs202013300 0.00003
NM_006218.4(PIK3CA):c.1501T>A (p.Ser501Thr) rs751557352 0.00003
NM_006218.4(PIK3CA):c.2416+6G>A rs759918867 0.00003
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254 0.00002
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met) rs17849078 0.00002
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750 0.00002
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser) rs200001957 0.00002
NM_006218.4(PIK3CA):c.563-3T>C rs200507422 0.00002
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val) rs765030404 0.00002
NM_006218.4(PIK3CA):c.1304C>T (p.Thr435Ile) rs745847400 0.00001
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro) rs200951754 0.00001
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684 0.00001
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr) rs772628045 0.00001
NM_006218.4(PIK3CA):c.1465A>G (p.Met489Val) rs1187304552 0.00001
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly) rs1060500027 0.00001
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773 0.00001
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser) rs753879573 0.00001
NM_006218.4(PIK3CA):c.1494G>T (p.Trp498Cys) rs1271146910 0.00001
NM_006218.4(PIK3CA):c.1505G>A (p.Arg502Gln) rs1220116506 0.00001
NM_006218.4(PIK3CA):c.1749G>A (p.Met583Ile) rs1302992156 0.00001
NM_006218.4(PIK3CA):c.176A>C (p.His59Pro) rs1480626654 0.00001
NM_006218.4(PIK3CA):c.1774C>T (p.Pro592Ser) rs1724920020 0.00001
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872 0.00001
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln) rs3865687 0.00001
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354 0.00001
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys) rs1060500029 0.00001
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly) rs1560137176 0.00001
NM_006218.4(PIK3CA):c.2187+3G>A rs758572428 0.00001
NM_006218.4(PIK3CA):c.2294+5T>C rs1265140191 0.00001
NM_006218.4(PIK3CA):c.2392G>A (p.Glu798Lys) rs1430412182 0.00001
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228 0.00001
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser) rs1560148927 0.00001
NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg) rs756890248 0.00001
NM_006218.4(PIK3CA):c.2554C>T (p.Arg852Ter) rs758795044 0.00001
NM_006218.4(PIK3CA):c.2555G>A (p.Arg852Gln) rs199943173 0.00001
NM_006218.4(PIK3CA):c.2623C>T (p.His875Tyr) rs892699659 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn) rs773300933 0.00001
NM_006218.4(PIK3CA):c.2936+6C>T rs547967000 0.00001
NM_006218.4(PIK3CA):c.2937-3T>C rs760056670 0.00001
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881 0.00001
NM_006218.4(PIK3CA):c.422G>A (p.Arg141Lys) rs200619412 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe) rs201705993 0.00001
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser) rs372610277 0.00001
NM_006218.4(PIK3CA):c.635A>G (p.Asn212Ser) rs751662352 0.00001
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr) rs1724405220 0.00001
NM_006218.4(PIK3CA):c.814T>C (p.Tyr272His) rs1724476312 0.00001
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr) rs1297000505 0.00001
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile) rs199605762 0.00001
NM_006218.4(PIK3CA):c.995G>A (p.Ser332Asn) rs1262394031 0.00001
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178916608)_(178952158_?)dup
NC_000003.11:g.(?_178916614)_(178952152_?)dup
NC_000003.11:g.(?_178935988)_(178952152_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NC_000003.11:g.(?_178951872)_(178952152_?)dup
NC_000003.12:g.(?_179199680)_(179234374_?)dup
NC_000003.12:g.(?_179203534)_(179234364_?)dup
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1014T>G (p.Ile338Met)
NM_006218.4(PIK3CA):c.103G>C (p.Glu35Gln) rs2108385365
NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val) rs1724484731
NM_006218.4(PIK3CA):c.1064A>G (p.Tyr355Cys) rs2108394261
NM_006218.4(PIK3CA):c.1076G>A (p.Gly359Asp)
NM_006218.4(PIK3CA):c.1082A>G (p.Tyr361Cys) rs1724506239
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_006218.4(PIK3CA):c.1130C>T (p.Pro377Leu)
NM_006218.4(PIK3CA):c.1136C>G (p.Ser379Cys) rs1724507950
NM_006218.4(PIK3CA):c.1145+4A>G rs1724508525
NM_006218.4(PIK3CA):c.1146-3T>C
NM_006218.4(PIK3CA):c.1175A>G (p.Tyr392Cys)
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1193G>C (p.Arg398Pro)
NM_006218.4(PIK3CA):c.1232G>C (p.Gly411Ala)
NM_006218.4(PIK3CA):c.1235G>T (p.Arg412Leu) rs2108399407
NM_006218.4(PIK3CA):c.1244C>T (p.Ala415Val) rs1576938120
NM_006218.4(PIK3CA):c.1251+1G>C
NM_006218.4(PIK3CA):c.1251+3A>G
NM_006218.4(PIK3CA):c.1251+5del
NM_006218.4(PIK3CA):c.1279A>G (p.Ile427Val)
NM_006218.4(PIK3CA):c.1292A>T (p.Asp431Val)
NM_006218.4(PIK3CA):c.1306C>G (p.Leu436Val) rs1365836230
NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val) rs1427967136
NM_006218.4(PIK3CA):c.1324G>A (p.Ala442Thr) rs200951754
NM_006218.4(PIK3CA):c.1343_1357del (p.Val448_Leu452del) rs1724673930
NM_006218.4(PIK3CA):c.134T>C (p.Ile45Thr)
NM_006218.4(PIK3CA):c.139C>T (p.His47Tyr) rs1724336565
NM_006218.4(PIK3CA):c.1404+3A>T
NM_006218.4(PIK3CA):c.1404+6G>A
NM_006218.4(PIK3CA):c.1426G>A (p.Glu476Lys)
NM_006218.4(PIK3CA):c.1445G>C (p.Ser482Thr)
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu) rs991307659
NM_006218.4(PIK3CA):c.1448T>C (p.Val483Ala) rs1724680844
NM_006218.4(PIK3CA):c.1467G>C (p.Met489Ile) rs2108401457
NM_006218.4(PIK3CA):c.1476T>G (p.Ile492Met) rs557949672
NM_006218.4(PIK3CA):c.1480G>C (p.Glu494Gln)
NM_006218.4(PIK3CA):c.1496C>G (p.Ser499Cys) rs1724682773
NM_006218.4(PIK3CA):c.1525T>A (p.Ser509Thr) rs2108401708
NM_006218.4(PIK3CA):c.1531G>A (p.Ala511Thr)
NM_006218.4(PIK3CA):c.1535G>C (p.Gly512Ala) rs200031978
NM_006218.4(PIK3CA):c.1540-1G>T rs2108407893
NM_006218.4(PIK3CA):c.1540A>C (p.Ser514Arg) rs2108407898
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln) rs1553820355
NM_006218.4(PIK3CA):c.1553C>G (p.Ala518Gly) rs1724885747
NM_006218.4(PIK3CA):c.1569A>C (p.Leu523Phe)
NM_006218.4(PIK3CA):c.1580A>G (p.Asp527Gly) rs1302938521
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr) rs1560144842
NM_006218.4(PIK3CA):c.1598C>G (p.Ala533Gly) rs1724886930
NM_006218.4(PIK3CA):c.1600A>C (p.Ile534Leu)
NM_006218.4(PIK3CA):c.1618C>G (p.Leu540Val) rs2108408264
NM_006218.4(PIK3CA):c.1631C>G (p.Thr544Ser) rs2108408335
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr) rs1576942444
NM_006218.4(PIK3CA):c.1664+3A>G rs769124869
NM_006218.4(PIK3CA):c.1664+6T>G
NM_006218.4(PIK3CA):c.1696C>T (p.Pro566Ser)
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1749G>T (p.Met583Ile) rs1302992156
NM_006218.4(PIK3CA):c.175C>T (p.His59Tyr) rs1266632047
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly) rs1060500028
NM_006218.4(PIK3CA):c.1775C>T (p.Pro592Leu)
NM_006218.4(PIK3CA):c.1777A>G (p.Ile593Val)
NM_006218.4(PIK3CA):c.1810T>C (p.Cys604Arg) rs2108410857
NM_006218.4(PIK3CA):c.181C>A (p.Leu61Ile) rs2108385717
NM_006218.4(PIK3CA):c.1824T>A (p.Asp608Glu)
NM_006218.4(PIK3CA):c.1834C>T (p.Arg612Ter)
NM_006218.4(PIK3CA):c.1846G>A (p.Val616Ile)
NM_006218.4(PIK3CA):c.1862A>T (p.Lys621Ile)
NM_006218.4(PIK3CA):c.1880A>G (p.Lys627Arg)
NM_006218.4(PIK3CA):c.189A>C (p.Gln63His) rs772678298
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.1974G>C (p.Leu658Phe)
NM_006218.4(PIK3CA):c.1997T>A (p.Phe666Tyr)
NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) rs1724332515
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2038G>A (p.Val680Ile)
NM_006218.4(PIK3CA):c.2042G>C (p.Ser681Thr) rs1724953620
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr) rs1576943715
NM_006218.4(PIK3CA):c.2056C>A (p.Leu686Met) rs1724954145
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys) rs1397152286
NM_006218.4(PIK3CA):c.2080G>A (p.Ala694Thr) rs200404201
NM_006218.4(PIK3CA):c.2119G>A (p.Glu707Lys) rs3729687
NM_006218.4(PIK3CA):c.2144_2148del (p.Asn714_Leu715insTer)
NM_006218.4(PIK3CA):c.2164_2166del (p.Glu722del)
NM_006218.4(PIK3CA):c.2187+4T>C
NM_006218.4(PIK3CA):c.2188G>A (p.Val730Ile)
NM_006218.4(PIK3CA):c.2219G>A (p.Arg740Lys) rs1560147074
NM_006218.4(PIK3CA):c.2220G>T (p.Arg740Ser)
NM_006218.4(PIK3CA):c.2255T>C (p.Leu752Pro)
NM_006218.4(PIK3CA):c.2269C>T (p.Pro757Ser)
NM_006218.4(PIK3CA):c.2275C>T (p.His759Tyr)
NM_006218.4(PIK3CA):c.2287A>G (p.Asn763Asp)
NM_006218.4(PIK3CA):c.2361CAT[1] (p.Ile788del) rs1576945593
NM_006218.4(PIK3CA):c.2362A>T (p.Ile788Phe) rs1356168549
NM_006218.4(PIK3CA):c.2365A>G (p.Met789Val) rs2108418054
NM_006218.4(PIK3CA):c.2368T>C (p.Ser790Pro) rs2108418067
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) rs1060500030
NM_006218.4(PIK3CA):c.2381T>A (p.Phe794Tyr) rs1725045573
NM_006218.4(PIK3CA):c.2423G>A (p.Arg808Gln) rs780837825
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His) rs371049193
NM_006218.4(PIK3CA):c.2458A>G (p.Met820Val) rs2108419521
NM_006218.4(PIK3CA):c.2489A>T (p.Asp830Val)
NM_006218.4(PIK3CA):c.2513G>C (p.Cys838Ser) rs1725157266
NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser) rs1725159134
NM_006218.4(PIK3CA):c.2612A>T (p.Gln871Leu) rs2108422970
NM_006218.4(PIK3CA):c.2624A>G (p.His875Arg)
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala) rs1576947670
NM_006218.4(PIK3CA):c.2666+3G>A rs1576947706
NM_006218.4(PIK3CA):c.2667A>T (p.Ile889=) rs17849078
NM_006218.4(PIK3CA):c.2668T>G (p.Tyr890Asp)
NM_006218.4(PIK3CA):c.2695C>T (p.Arg899Cys)
NM_006218.4(PIK3CA):c.2696G>A (p.Arg899His) rs1725176691
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val) rs1553825421
NM_006218.4(PIK3CA):c.274C>A (p.Leu92Ile) rs1724342021
NM_006218.4(PIK3CA):c.2784+5T>C
NM_006218.4(PIK3CA):c.2785C>T (p.Leu929=)
NM_006218.4(PIK3CA):c.2823G>A (p.Lys941=)
NM_006218.4(PIK3CA):c.2845C>T (p.Arg949Ter) rs2108425013
NM_006218.4(PIK3CA):c.2861T>A (p.Phe954Tyr) rs2108425090
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys) rs1576948107
NM_006218.4(PIK3CA):c.2882T>C (p.Leu961Ser)
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2948T>A (p.Met983Lys)
NM_006218.4(PIK3CA):c.2969C>G (p.Ala990Gly) rs1725278653
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln) rs1560150481
NM_006218.4(PIK3CA):c.2981A>G (p.His994Arg)
NM_006218.4(PIK3CA):c.2987A>G (p.Asn996Ser)
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3012G>T (p.Met1004Ile)
NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu) rs1724342655
NM_006218.4(PIK3CA):c.3056T>C (p.Ile1019Thr) rs1725280610
NM_006218.4(PIK3CA):c.311C>G (p.Pro104Arg) rs863225060
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys) rs1576949960
NM_006218.4(PIK3CA):c.3139_3140delinsAT (p.His1047Ile) rs1725283257
NM_006218.4(PIK3CA):c.314T>C (p.Val105Ala)
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.3194A>T (p.His1065Leu) rs1560150596
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val) rs1253171657
NM_006218.4(PIK3CA):c.3203A>T (p.Asn1068Ile) rs1725284914
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del) rs1553820399
NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp) rs1060500031
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)
NM_006218.4(PIK3CA):c.352+6A>G
NM_006218.4(PIK3CA):c.367A>G (p.Met123Val) rs1724359925
NM_006218.4(PIK3CA):c.373G>A (p.Val125Met) rs1724360010
NM_006218.4(PIK3CA):c.37A>G (p.Ile13Val) rs2108385090
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.389T>C (p.Met130Thr) rs1724360472
NM_006218.4(PIK3CA):c.396A>C (p.Lys132Asn)
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr) rs1576931874
NM_006218.4(PIK3CA):c.449C>T (p.Ala150Val)
NM_006218.4(PIK3CA):c.451G>A (p.Val151Met)
NM_006218.4(PIK3CA):c.457C>T (p.Leu153Phe)
NM_006218.4(PIK3CA):c.45G>C (p.Leu15Phe)
NM_006218.4(PIK3CA):c.463G>C (p.Asp155His) rs1724363908
NM_006218.4(PIK3CA):c.466C>G (p.Leu156Val)
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu) rs200762923
NM_006218.4(PIK3CA):c.476_478del (p.Pro159del) rs1724364548
NM_006218.4(PIK3CA):c.481A>G (p.Ser161Gly)
NM_006218.4(PIK3CA):c.493T>C (p.Tyr165His)
NM_006218.4(PIK3CA):c.512T>C (p.Val171Ala)
NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu) rs1175225456
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu) rs1576932528
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.563-14T>A
NM_006218.4(PIK3CA):c.586G>A (p.Val196Ile) rs541134560
NM_006218.4(PIK3CA):c.586G>T (p.Val196Leu)
NM_006218.4(PIK3CA):c.596C>A (p.Ser199Tyr)
NM_006218.4(PIK3CA):c.611A>C (p.Lys204Thr) rs1724404532
NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg) rs1724404532
NM_006218.4(PIK3CA):c.61C>A (p.Leu21Ile)
NM_006218.4(PIK3CA):c.649C>T (p.Pro217Ser)
NM_006218.4(PIK3CA):c.661A>G (p.Ile221Val) rs1724405654
NM_006218.4(PIK3CA):c.719A>C (p.Lys240Thr) rs2108389866
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) rs1553820694
NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr) rs1060500032
NM_006218.4(PIK3CA):c.768A>G (p.Gly256=)
NM_006218.4(PIK3CA):c.788A>G (p.Glu263Gly)
NM_006218.4(PIK3CA):c.831_833del (p.Ile277del) rs2108392531
NM_006218.4(PIK3CA):c.835C>T (p.Leu279Phe) rs1260908401
NM_006218.4(PIK3CA):c.847C>G (p.Pro283Ala)
NM_006218.4(PIK3CA):c.851A>G (p.Asn284Ser)
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs) rs1576934610
NM_006218.4(PIK3CA):c.863T>C (p.Met288Thr) rs2108392669
NM_006218.4(PIK3CA):c.910A>G (p.Met304Val) rs754602413
NM_006218.4(PIK3CA):c.91A>C (p.Ile31Leu) rs1724335079
NM_006218.4(PIK3CA):c.928C>T (p.Arg310Cys) rs780572147
NM_006218.4(PIK3CA):c.932T>C (p.Ile311Thr)
NM_006218.4(PIK3CA):c.952A>G (p.Met318Val)
NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp) rs1724480940
NM_006218.4(PIK3CA):c.971C>T (p.Thr324Ile)
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031
NM_006218.4(PIK3CA):c.997G>T (p.Ala333Ser) rs1724482664
NM_006218.4(PIK3CA):c.998C>T (p.Ala333Val) rs759611407

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