ClinVar Miner

List of variants reported as likely pathogenic for Cowden syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser) rs1859965098 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NC_000010.11:g.87965287del rs2132289111
NM_000314.8(PTEN):c.-1_22del (p.Met1fs)
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro) rs1589617199
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val) rs1554825652
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+1_1026+2delinsTC
NM_000314.8(PTEN):c.1026+2T>A
NM_000314.8(PTEN):c.1026+2T>C
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1026+2_1026+19delinsG
NM_000314.8(PTEN):c.1027-11_1028del
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-1G>C rs1057517809
NM_000314.8(PTEN):c.1027-1G>T
NM_000314.8(PTEN):c.1027-29_1029del
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1027-2A>T rs1085308041
NM_000314.8(PTEN):c.1027-4_1027-2delinsGTC
NM_000314.8(PTEN):c.103A>C (p.Met35Leu) rs876659443
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.105_106delinsTC (p.Met35_Gly36delinsIleArg)
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.126_164+5del
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.154_164+1delinsAATATTGTTAATAA
NM_000314.8(PTEN):c.165-17_165del rs1554897240
NM_000314.8(PTEN):c.165-36_195del
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.187_209+4del
NM_000314.8(PTEN):c.194_209+28del
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn) rs398123317
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-1G>C rs1114167621
NM_000314.8(PTEN):c.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.254-19_326del
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs) rs1859964600
NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu) rs779530981
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln) rs1554898074
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.296_297insTA (p.Glu99fs)
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)
NM_000314.8(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser) rs1589646321
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu) rs1554898127
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386G>T (p.Gly129Val) rs121909218
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.3_27del (p.Met1fs) rs2132145338
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.461_492+7del
NM_000314.8(PTEN):c.463T>C (p.Tyr155His) rs398123325
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.471del (p.Glu157_Val158insTer)
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+2del rs1060500124
NM_000314.8(PTEN):c.492_492+1delinsA
NM_000314.8(PTEN):c.493-1G>C rs786204862
NM_000314.8(PTEN):c.493-1G>T rs786204862
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn) rs876660507
NM_000314.8(PTEN):c.50_79+23del
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.635-32_643del
NM_000314.8(PTEN):c.635-33_653del
NM_000314.8(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.721_786del (p.Phe241_Asn262del)
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) rs786204902
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1del rs1060500110
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-2_816del
NM_000314.8(PTEN):c.802-37_815del
NM_000314.8(PTEN):c.802-54_883del
NM_000314.8(PTEN):c.802-8_839del
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.898del (p.Ile300fs) rs2132282499
NM_000314.8(PTEN):c.916dup (p.Ile306fs) rs1860625934
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667
NM_000314.8(PTEN):c.966_996del (p.Asn323fs) rs2132283188
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp) rs1576947658

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.