ClinVar Miner

List of variants reported as pathogenic for PTEN hamartoma tumor syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP
NC_000010.10:g.(?_88635625)_(89653886_?)del
NC_000010.10:g.(?_89622928)_(89624315_?)del
NC_000010.10:g.(?_89622928)_(89712026_?)del
NC_000010.10:g.(?_89653772)_(89653876_?)del
NC_000010.10:g.(?_89653772)_(89725239_?)del
NC_000010.10:g.(?_89653782)_(89653866_?)del
NC_000010.10:g.(?_89690783)_(89717796_?)del
NC_000010.10:g.(?_89690793)_(89690856_?)del
NC_000010.10:g.(?_89690797)_(89693014_?)del
NC_000010.10:g.(?_89711869)_(89712022_?)del
NM_000314.6(PTEN):c.80-?_492+?del
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.7(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.127G>T (p.Glu43Ter) rs1554893808
NM_000314.7(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.170T>A (p.Leu57Ter)
NM_000314.7(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.7(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.7(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.7(PTEN):c.209+1G>T rs1554897280
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.210-1G>A rs1114167621
NM_000314.7(PTEN):c.253+1G>T rs587776667
NM_000314.7(PTEN):c.253+5G>T rs1554897889
NM_000314.7(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.7(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.7(PTEN):c.289C>T (p.Gln97Ter) rs786204928
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.7(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.7(PTEN):c.332_333insT (p.Trp111fs)
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.37A>T (p.Lys13Ter) rs1554890348
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.7(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.7(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.7(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.7(PTEN):c.437T>G (p.Leu146Ter) rs786204933
NM_000314.7(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.7(PTEN):c.465T>A (p.Tyr155Ter) rs1554898206
NM_000314.7(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.7(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.7(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.7(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.7(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.7(PTEN):c.634+5G>A rs138336847
NM_000314.7(PTEN):c.635-1G>C rs876661024
NM_000314.7(PTEN):c.635-2A>G rs1564566706
NM_000314.7(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.7(PTEN):c.685_686dup (p.Gly230fs) rs1564566801
NM_000314.7(PTEN):c.693del (p.Thr232fs) rs1554825189
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.7(PTEN):c.720C>G (p.Tyr240Ter) rs190070312
NM_000314.7(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.7(PTEN):c.723_724dup (p.Glu242fs) rs1554825209
NM_000314.7(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.7(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.7(PTEN):c.738_739dup (p.Leu247fs)
NM_000314.7(PTEN):c.740T>A (p.Leu247Ter) rs1057519368
NM_000314.7(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.7(PTEN):c.744_745TG[3] (p.Cys250fs) rs780264945
NM_000314.7(PTEN):c.755_756AT[3] (p.Lys254fs) rs878853942
NM_000314.7(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.7(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.7(PTEN):c.796A>T (p.Lys266Ter)
NM_000314.7(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.7(PTEN):c.823_824del (p.Val275fs)
NM_000314.7(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.7(PTEN):c.840_841del (p.Pro281fs)
NM_000314.7(PTEN):c.845del (p.Gly282fs) rs864622451
NM_000314.7(PTEN):c.863_865delinsCT (p.Glu288fs)
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.7(PTEN):c.87T>A (p.Tyr29Ter) rs1554893756
NM_000314.7(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.7(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.7(PTEN):c.928_929insTT (p.Asp310fs) rs786204906
NM_000314.7(PTEN):c.945T>G (p.Tyr315Ter) rs876661058
NM_000314.7(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) rs146650273
NM_000314.7(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.7(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.7(PTEN):c.956_960del (p.Thr319fs)
NM_000314.7(PTEN):c.959T>A (p.Leu320Ter) rs1114167667
NM_000314.7(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.987_996dup (p.Ala333Ter) rs864622387
NM_000314.7(PTEN):c.991_992del (p.Asp331fs) rs1554825611
NM_000314.7(PTEN):c.996dup (p.Ala333fs) rs1554825615
NM_000314.8(PTEN):c.228dup (p.Asp77Ter)
NM_000314.8(PTEN):c.359dup (p.Ala121fs)
NM_000314.8(PTEN):c.645dup (p.Val216fs)
NM_000314.8(PTEN):c.69dup (p.Asp24fs)
NM_000314.8(PTEN):c.829dup (p.Thr277fs)
NM_000314.8(PTEN):c.968del (p.Asn323fs)
NM_001304717.5(PTEN):c.1012+1del rs1564830522
NM_001304717.5(PTEN):c.1321+1del rs1060500110
NM_001304717.5(PTEN):c.729+1_729+2del rs1564826836
NM_001304718.2(PTEN):c.-260del rs786204900
NM_001304718.2(PTEN):c.-261_-260del rs786204900
NM_001304718.2(PTEN):c.-265_-264del rs1554898231
NM_001304718.2(PTEN):c.-266_-264delinsCC rs1554898231
NM_001304718.2(PTEN):c.-282dup
NM_001304718.2(PTEN):c.-304del rs1554898188
NM_001304718.2(PTEN):c.-335del rs1554898163
NM_001304718.2(PTEN):c.-352_-348del rs1554898150
NM_001304718.2(PTEN):c.-365del rs1554898139
NM_001304718.2(PTEN):c.-401_-398del rs1564830070
NM_001304718.2(PTEN):c.-404_-400del rs587776666
NM_001304718.2(PTEN):c.-405_-393dup rs1064792910
NM_001304718.2(PTEN):c.-436dup rs1554898091
NM_001304718.2(PTEN):c.-44_-41del rs1564837868
NM_001304718.2(PTEN):c.-450dup rs1554898084
NM_001304718.2(PTEN):c.-47dup rs878853941
NM_001304718.2(PTEN):c.-52_-51delinsGT rs1554900587
NM_001304718.2(PTEN):c.-541-5498dup rs1060500113
NM_001304718.2(PTEN):c.-541-5510del rs1554897267
NM_001304718.2(PTEN):c.-574dup rs878853933
NM_001304718.2(PTEN):c.-575dup rs1564814541
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001304718.2(PTEN):c.-614del rs1564814427
NM_001304718.2(PTEN):c.-638del rs1554890400
NM_001304718.2(PTEN):c.-653del rs878853940
NM_001304718.2(PTEN):c.-656_-655del rs587781912
NM_001304718.2(PTEN):c.-67del rs1554900566
NM_001304718.2(PTEN):c.-689_-688del rs121913290
NM_001304718.2(PTEN):c.-80_-79AG[1] rs1564837778
Single allele

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.