ClinVar Miner

List of variants in gene PIK3CA studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (20):
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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]
NM_006218.4(PIK3CA):c.*29T>C rs141178472
NM_006218.4(PIK3CA):c.-138C>T
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1060-9T>C
NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile) rs587777793
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794
NM_006218.4(PIK3CA):c.1146-30G>A
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro) rs200951754
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr)
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu)
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly) rs1060500027
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser) rs753879573
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln) rs1553820355
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr) rs1560144842
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr)
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly) rs1060500028
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln)
NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter) rs587777796
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2016-12C>T
NM_006218.4(PIK3CA):c.2016-29A>T
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys)
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys) rs1060500029
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser) rs200404201
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) rs201269904
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly) rs1560137176
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.2294+5T>C
NM_006218.4(PIK3CA):c.2361_2363CAT[1] (p.Ile788del)
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) rs1060500030
NM_006218.4(PIK3CA):c.2416+6G>A rs759918867
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His) rs371049193
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser) rs1560148927
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala)
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750
NM_006218.4(PIK3CA):c.2666+3G>A
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val) rs1553825421
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=) rs769962451
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=) rs1282232507
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys)
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=) rs369770518
NM_006218.4(PIK3CA):c.2937-3T>C
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln) rs1560150481
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys)
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
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)
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.341A>G (p.Asn114Ser) rs746860750
NM_006218.4(PIK3CA):c.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val) rs371727887
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881
NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys) rs587777791
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe) rs201705993
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser) rs200001957
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu) rs200762923
NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu)
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.563-3T>C rs200507422
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser) rs372610277
NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys) rs587777792
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.817A>G (p.Ile273Val) rs765030404
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs)
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val) rs201238717
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr)
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile) rs199605762
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031

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