ClinVar Miner

List of variants in gene PIK3CA reported as uncertain significance for Cowden syndrome 1

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro)
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684
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.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.1660C>T (p.His554Tyr)
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.178C>A (p.Gln60Lys) rs71310379
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
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)
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.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
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.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.2872C>A (p.Gln958Lys)
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
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.3132T>A (p.Asn1044Lys)
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.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.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)
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
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser)
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)
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)
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.