PTEN — 3243 ClinVar variants

Pathogenic 558

Showing the top 300 by review status; the full set is in the sitemap.

• c.1026+1G>A Expert panel PTEN hamartoma tumor syndrome
• c.1027-1G>A Expert panel PTEN hamartoma tumor syndrome
• c.165-1G>C Expert panel PTEN hamartoma tumor syndrome
• c.209+4_209+7del Expert panel PTEN hamartoma tumor syndrome
• c.209+4A>G Expert panel PTEN hamartoma tumor syndrome
• c.210-2_211del Expert panel PTEN hamartoma tumor syndrome
• c.492+1G>T Expert panel PTEN hamartoma tumor syndrome
• c.492+2T>G Expert panel PTEN hamartoma tumor syndrome
• c.493-2A>G Expert panel PTEN hamartoma tumor syndrome
• c.634+2T>C Expert panel PTEN hamartoma tumor syndrome
• c.634+5G>A Expert panel PTEN hamartoma tumor syndrome
• c.634+5G>C Expert panel PTEN hamartoma tumor syndrome
• c.80-1G>C Expert panel PTEN hamartoma tumor syndrome
• c.801+1del Expert panel PTEN hamartoma tumor syndrome
• c.802-2A>T Expert panel PTEN hamartoma tumor syndrome
• c.802-2del Expert panel PTEN hamartoma tumor syndrome
• p.Ala34Pro Expert panel PTEN hamartoma tumor syndrome
• p.Arg130Gln Expert panel PTEN hamartoma tumor syndrome
• p.Arg130Gly Expert panel PTEN hamartoma tumor syndrome
• p.Arg130Pro Expert panel PTEN hamartoma tumor syndrome
• p.Arg159Lys Expert panel PTEN hamartoma tumor syndrome
• p.Arg172fs Expert panel PTEN hamartoma tumor syndrome
• p.Arg173Cys Expert panel PTEN hamartoma tumor syndrome
• p.Arg335Ter Expert panel PTEN hamartoma tumor syndrome
• p.Arg47Gly Expert panel PTEN hamartoma tumor syndrome
• p.Asn329fs Expert panel PTEN hamartoma tumor syndrome
• p.Asp107Tyr Expert panel PTEN hamartoma tumor syndrome
• p.Asp107Val Expert panel PTEN hamartoma tumor syndrome
• p.Asp24Asn Expert panel PTEN hamartoma tumor syndrome
• p.Asp24His Expert panel PTEN hamartoma tumor syndrome
• p.Asp252Gly Expert panel PTEN hamartoma tumor syndrome
• p.Cys105Tyr Expert panel PTEN hamartoma tumor syndrome
• p.Cys124Arg Expert panel PTEN hamartoma tumor syndrome
• p.Cys136Trp Expert panel PTEN hamartoma tumor syndrome
• p.Cys136Tyr Expert panel PTEN hamartoma tumor syndrome
• p.Cys211Trp Expert panel PTEN hamartoma tumor syndrome
• p.Cys71Tyr Expert panel PTEN hamartoma tumor syndrome
• p.Gln171Ter Expert panel PTEN hamartoma tumor syndrome
• p.Gln17fs Expert panel PTEN hamartoma tumor syndrome
• p.Gln298Ter Expert panel PTEN hamartoma tumor syndrome
• p.Glu157Ter Expert panel PTEN hamartoma tumor syndrome
• p.Glu256Ter Expert panel PTEN hamartoma tumor syndrome
• p.Gly132Asp Expert panel PTEN hamartoma tumor syndrome
• p.Gly36Glu Expert panel PTEN hamartoma tumor syndrome
• p.Gly44Asp Expert panel PTEN hamartoma tumor syndrome
• p.His123Arg Expert panel PTEN hamartoma tumor syndrome
• p.His123Asp Expert panel PTEN hamartoma tumor syndrome
• p.His93Arg Expert panel PTEN hamartoma tumor syndrome
• p.Ile50Thr Expert panel PTEN hamartoma tumor syndrome
• p.Leu181Pro Expert panel PTEN hamartoma tumor syndrome
• p.Leu345Pro Expert panel PTEN hamartoma tumor syndrome
• p.Lys125Glu Expert panel PTEN hamartoma tumor syndrome
• p.Lys6Glu Expert panel PTEN hamartoma tumor syndrome
• p.Met134Val Expert panel PTEN hamartoma tumor syndrome
• p.Met1Val Expert panel PTEN hamartoma tumor syndrome
• p.Met35Arg Expert panel PTEN hamartoma tumor syndrome
• p.Met35Val Expert panel PTEN hamartoma tumor syndrome
• p.Pro204Ala Expert panel PTEN hamartoma tumor syndrome
• p.Pro246Leu Expert panel PTEN hamartoma tumor syndrome
• p.Pro38Leu Expert panel PTEN hamartoma tumor syndrome
• p.Pro95Leu Expert panel PTEN hamartoma tumor syndrome
• p.Ter404Cys Expert panel PTEN hamartoma tumor syndrome
• p.Thr131Ile Expert panel PTEN hamartoma tumor syndrome
• p.Thr277Ile Expert panel PTEN hamartoma tumor syndrome
• p.Trp111Arg Expert panel PTEN hamartoma tumor syndrome
• p.Tyr155Cys Expert panel PTEN hamartoma tumor syndrome
• p.Tyr178_Ser179delinsTer Expert panel PTEN hamartoma tumor syndrome
• p.Tyr65Ter Expert panel PTEN hamartoma tumor syndrome
• p.Tyr76del Expert panel PTEN hamartoma tumor syndrome
• p.Val53Ile Expert panel PTEN hamartoma tumor syndrome
• c.1026+1G>C Multiple submitters PTEN hamartoma tumor syndrome
• c.164+1_164+5del Multiple submitters hereditary neoplastic syndrome
• c.164+1G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.164+1G>C Multiple submitters hereditary neoplastic syndrome
• c.164+1G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.165-2A>G Multiple submitters hereditary neoplastic syndrome
• c.209+1G>C Multiple submitters hereditary neoplastic syndrome
• c.209+2T>A Multiple submitters PTEN hamartoma tumor syndrome
• c.209+5G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.210-1G>A Multiple submitters hereditary neoplastic syndrome
• c.253+1G>A Multiple submitters hereditary neoplastic syndrome
• c.253+1G>C Multiple submitters hereditary neoplastic syndrome
• c.253+1G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.253+2T>A Multiple submitters PTEN hamartoma tumor syndrome
• c.493-1G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.493-1G>C Multiple submitters hereditary neoplastic syndrome
• c.493-2A>C Multiple submitters PTEN hamartoma tumor syndrome
• c.634+1G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.634+1G>C Multiple submitters hereditary neoplastic syndrome
• c.634+1G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.634+2T>G Multiple submitters PTEN hamartoma tumor syndrome
• c.801+2T>A Multiple submitters hereditary neoplastic syndrome
• c.802-1G>C Multiple submitters PTEN hamartoma tumor syndrome
• c.802-1G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.802-2A>G Multiple submitters hereditary neoplastic syndrome
• c.-541-5533del Multiple submitters PTEN hamartoma tumor syndrome
• p.Ala126Pro Multiple submitters PTEN hamartoma tumor syndrome
• p.Ala148fs Multiple submitters hereditary neoplastic syndrome
• p.Arg130fs Multiple submitters Cowden syndrome 1
• p.Arg130Ter Multiple submitters familial meningioma
• p.Arg142fs Multiple submitters Cowden disease
• p.Arg15fs Multiple submitters hereditary neoplastic syndrome
• p.Arg15Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Arg173Gly Multiple submitters
• p.Arg173Pro Multiple submitters hereditary neoplastic syndrome
• p.Arg189Ter Multiple submitters glioma susceptibility 2
• p.Arg84Ter Multiple submitters Cowden syndrome 1
• p.Asn276fs Multiple submitters hereditary neoplastic syndrome
• p.Asn276Ser Multiple submitters macrocephaly-autism syndrome
• p.Asn292fs Multiple submitters PTEN-related disorder
• p.Asn31fs Multiple submitters hereditary neoplastic syndrome
• p.Asn48Ser Multiple submitters Cowden syndrome 1
• p.Asp24Tyr Multiple submitters Cowden syndrome 1
• p.Asp268fs Multiple submitters hereditary neoplastic syndrome
• p.Asp326Asn Multiple submitters PTEN hamartoma tumor syndrome
• p.Asp51fs Multiple submitters Cowden syndrome 1
• p.Asp92_His93insTer Multiple submitters PTEN hamartoma tumor syndrome
• p.Cys124Gly Multiple submitters hereditary neoplastic syndrome
• p.Cys218Ter Multiple submitters familial meningioma
• p.Cys250Ter Multiple submitters hereditary neoplastic syndrome
• p.Cys83fs Multiple submitters Cowden syndrome 1
• p.Cys83Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Gln110Ter Multiple submitters glioma susceptibility 2
• p.Gln149delinsLeuTer Multiple submitters Cowden syndrome 1
• p.Gln149Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Gln171fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Gln17Ter Multiple submitters Cowden syndrome 1
• p.Gln219Ter Multiple submitters PTEN-related disorder
• p.Gln245Ter Multiple submitters Cowden syndrome 1
• p.Gln87fs Multiple submitters hereditary neoplastic syndrome
• p.Gln97Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Glu106fs Multiple submitters Cowden syndrome 1
• p.Glu106Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu150Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu18fs Multiple submitters hereditary neoplastic syndrome
• p.Glu285Ter Multiple submitters Cowden syndrome 1
• p.Glu291fs Multiple submitters hereditary neoplastic syndrome
• p.Glu299Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Glu307Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu314Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu40Ter Multiple submitters Cowden disease
• p.Glu43fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Glu43Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu7fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Glu7Ter Multiple submitters Cowden syndrome 1
• p.Gly127Ter Multiple submitters Cowden syndrome 1
• p.Gly129fs Multiple submitters Cowden syndrome 1
• p.Gly165Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly208fs Multiple submitters Cowden syndrome 1
• p.Gly20fs Multiple submitters Cowden syndrome 1
• p.Gly230Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Gly293Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Gly36Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.His196fs Multiple submitters hereditary neoplastic syndrome
• p.Ile168fs Multiple submitters hereditary neoplastic syndrome
• p.Ile33fs Multiple submitters hereditary neoplastic syndrome
• p.Leu112Arg Multiple submitters Cowden syndrome 1
• p.Leu112Pro Multiple submitters Cowden syndrome 1
• p.Leu146Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu182_Lys183insTer Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu182Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu194Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu23Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu25Phe Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu318_Thr319insTer Multiple submitters hereditary neoplastic syndrome
• p.Leu320Ter Multiple submitters macrocephaly-autism syndrome
• p.Leu57fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys125Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys13Ter Multiple submitters macrocephaly-autism syndrome
• p.Lys164fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys164Ter Multiple submitters Cowden syndrome 1
• p.Lys197fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys223Ter Multiple submitters Cowden syndrome 1
• p.Lys237Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys260fs Multiple submitters hereditary neoplastic syndrome
• p.Lys263fs Multiple submitters hereditary neoplastic syndrome
• p.Lys266Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys267Asn Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys289_Val290insTer Multiple submitters Cowden syndrome 1
• p.Lys289fs Multiple submitters hereditary neoplastic syndrome
• p.Lys289Ter Multiple submitters Cowden syndrome 1
• p.Lys332fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys60fs Multiple submitters hereditary neoplastic syndrome
• p.Lys62Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys66fs Multiple submitters hereditary neoplastic syndrome
• p.Lys6fs Multiple submitters hereditary neoplastic syndrome
• p.Met270fs Multiple submitters Cowden syndrome 1
• p.Phe206fs Multiple submitters hereditary neoplastic syndrome
• p.Phe215fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Phe238fs Multiple submitters hereditary neoplastic syndrome
• p.Phe278fs Multiple submitters Cowden syndrome 1
• p.Phe90fs Multiple submitters hereditary neoplastic syndrome
• p.Pro244fs Multiple submitters Cowden syndrome 1
• p.Pro248fs Multiple submitters macrocephaly-autism syndrome
• p.Ser170Arg Multiple submitters PTEN hamartoma tumor syndrome
• p.Ser170fs Multiple submitters Cowden syndrome 1
• p.Ser170Ile Multiple submitters PTEN-related disorder
• p.Ser59Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Thr26Pro Multiple submitters PTEN hamartoma tumor syndrome
• p.Thr319fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Thr350fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Trp111Ter Multiple submitters hereditary neoplastic syndrome
• p.Trp274Ter Multiple submitters PTEN-related disorder
• p.Tyr138Ter Multiple submitters Cowden syndrome 1
• p.Tyr155Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr16fs Multiple submitters hereditary neoplastic syndrome
• p.Tyr16Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr177Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr225fs Multiple submitters hereditary neoplastic syndrome
• p.Tyr225Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr240_Phe241insTer Multiple submitters hereditary neoplastic syndrome
• p.Tyr315Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr336Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr68fs Multiple submitters Cowden syndrome 1
• p.Tyr68Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr76Ter Multiple submitters Cowden syndrome 1
• p.Tyr88Ter Multiple submitters Cowden syndrome 1
• p.Val166fs Multiple submitters Cowden syndrome 1
• p.Val175Met Multiple submitters hereditary neoplastic syndrome
• p.Val191fs Multiple submitters Cowden syndrome 1
• p.Val290fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Val317fs Multiple submitters hereditary neoplastic syndrome
• c.1006_1026+13del Single submitter PTEN hamartoma tumor syndrome
• c.164+1_164+9delinsTTAC Single submitter Cowden syndrome 1
• c.164+2T>A Single submitter Cowden syndrome 1
• c.164+2T>G Single submitter PTEN hamartoma tumor syndrome
• c.165-2A>C Single submitter PTEN hamartoma tumor syndrome
• c.165-2A>T Single submitter hereditary neoplastic syndrome
• c.165-3_165del Single submitter hereditary neoplastic syndrome
• c.209+4A>C Single submitter PTEN hamartoma tumor syndrome
• c.209+6T>A Single submitter PTEN hamartoma tumor syndrome
• c.209+6T>G Single submitter PTEN hamartoma tumor syndrome
• c.210-2A>T Single submitter PTEN hamartoma tumor syndrome
• c.219_253+46del Single submitter hereditary neoplastic syndrome
• c.419_420insALU Single submitter hereditary neoplastic syndrome
• c.492+2dup Single submitter PTEN hamartoma tumor syndrome
• c.492+2T>C Single submitter
• c.493-2_493-1delinsCC Single submitter Cowden syndrome 1
• c.493-20_497del Single submitter hereditary neoplastic syndrome
• c.493-5_528del Single submitter Cowden syndrome 1
• c.493-6_511del Single submitter hereditary neoplastic syndrome
• c.494delG Single submitter hereditary neoplastic syndrome
• c.561_634+54del Single submitter PTEN hamartoma tumor syndrome
• c.634_634+1del Single submitter hereditary neoplastic syndrome
• c.634+2T>A Single submitter PTEN hamartoma tumor syndrome
• c.635-2A>C Single submitter PTEN hamartoma tumor syndrome
• c.795_801+1del Single submitter hereditary neoplastic syndrome
• c.80-259_164+1293del Single submitter Cowden syndrome 1
• c.80-?_492+?del Single submitter PTEN hamartoma tumor syndrome
• c.801+1G>C Single submitter PTEN hamartoma tumor syndrome
• c.801+2T>C Single submitter PTEN hamartoma tumor syndrome
• c.802-131_935del Single submitter PTEN hamartoma tumor syndrome
• c.802-6_802-2delinsG Single submitter Cowden syndrome 1
• c.-326= Single submitter myeloproliferative neoplasm, unclassifiable
• p.Ala151fs Single submitter hereditary neoplastic syndrome
• p.Ala192fs Single submitter hereditary neoplastic syndrome
• p.Ala309fs Single submitter hereditary neoplastic syndrome
• p.Ala328fs Single submitter PTEN hamartoma tumor syndrome
• p.Ala333fs Single submitter PTEN hamartoma tumor syndrome
• p.Ala333Ter Single submitter PTEN hamartoma tumor syndrome
• p.Ala79fs Single submitter Cowden syndrome 1
• p.Ala86fs Single submitter hemimegalencephaly
• p.Arg11fs Single submitter hereditary neoplastic syndrome
• p.Arg11Ter Single submitter Cowden syndrome 1
• p.Arg14fs Single submitter PTEN hamartoma tumor syndrome
• p.Arg14Ter Single submitter hereditary neoplastic syndrome
• p.Arg159fs Single submitter Bannayan-Riley-Ruvalcaba syndrome
• p.Arg159Trp Single submitter PTEN hamartoma tumor syndrome
• p.Arg161fs Single submitter PTEN hamartoma tumor syndrome
• p.Arg173fs Single submitter Cowden syndrome 1
• p.Arg233fs Single submitter hereditary neoplastic syndrome
• p.Arg234fs Single submitter Cowden syndrome 1
• p.Arg308_Ala309insGluValTyrValIleLysLysSerIleAlaPheAlaValTer Single submitter Cowden syndrome 1
• p.Arg308fs Single submitter Cowden syndrome 1
• p.Arg41fs Single submitter Cowden syndrome 1
• p.Arg41Ter Single submitter Cowden syndrome 1
• p.Arg47_Asn48delinsSerHis Single submitter PTEN hamartoma tumor syndrome
• p.Arg55fs Single submitter hereditary neoplastic syndrome
• p.Arg55Ter Single submitter PTEN hamartoma tumor syndrome
• p.Arg74fs Single submitter hereditary neoplastic syndrome
• p.Arg74Ter Single submitter PTEN hamartoma tumor syndrome
• p.Asn12fs Single submitter hereditary neoplastic syndrome
• p.Asn12Thr Single submitter PTEN hamartoma tumor syndrome
• p.Asn184fs Single submitter PTEN hamartoma tumor syndrome
• p.Asn262fs Single submitter PTEN hamartoma tumor syndrome
• p.Asn311fs Single submitter Cowden syndrome 1
• p.Asn334fs Single submitter Cowden syndrome 1
• p.Asn340fs Single submitter Cowden syndrome 1
• p.Asn48fs Single submitter Cowden syndrome 1
• p.Asn63fs Single submitter PTEN hamartoma tumor syndrome
• p.Asn69fs Single submitter hereditary neoplastic syndrome
• p.Asn94fs Single submitter Cowden syndrome 1
• p.Asp109fs Single submitter hereditary neoplastic syndrome
• p.Asp153fs Single submitter hereditary neoplastic syndrome
• p.Asp162fs Single submitter hereditary neoplastic syndrome
• p.Asp19fs Single submitter Cowden syndrome 1
• p.Asp19Val Single submitter PTEN hamartoma tumor syndrome
• p.Asp22_Leu23insTer Single submitter PTEN hamartoma tumor syndrome
• p.Asp22fs Single submitter PTEN hamartoma tumor syndrome
• p.Asp236fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 100

• c.1026+1G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.1026+2T>G Multiple submitters hereditary neoplastic syndrome
• c.1027-1G>C Multiple submitters hereditary neoplastic syndrome
• c.1027-2A>C Multiple submitters hereditary neoplastic syndrome
• c.1027-2A>G Multiple submitters hereditary neoplastic syndrome
• c.1027-2A>T Multiple submitters Cowden syndrome 1
• c.209+1_209+2del Multiple submitters hereditary neoplastic syndrome
• c.209+1G>A Multiple submitters macrocephaly-autism syndrome
• c.209+1G>T Multiple submitters hereditary neoplastic syndrome
• c.209+2T>C Multiple submitters familial meningioma
• c.210-2A>C Multiple submitters hereditary neoplastic syndrome
• c.210-2A>G Multiple submitters Cowden syndrome 1
• c.253+1dup Multiple submitters hereditary neoplastic syndrome
• c.253+5G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.254-1G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.492+1del Multiple submitters hereditary neoplastic syndrome
• c.492+1G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.492+1G>C Multiple submitters hereditary neoplastic syndrome
• c.493-1G>T Multiple submitters macrocephaly-autism syndrome
• c.635-1G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.635-1G>C Multiple submitters hereditary neoplastic syndrome
• c.635-1G>T Multiple submitters hereditary neoplastic syndrome
• c.635-2A>G Multiple submitters PTEN hamartoma tumor syndrome
• c.80-1_80del Multiple submitters PTEN hamartoma tumor syndrome
• c.80-1G>A Multiple submitters hereditary neoplastic syndrome
• c.801+1G>A Multiple submitters hereditary neoplastic syndrome
• c.801+1G>T Multiple submitters hereditary neoplastic syndrome
• c.802-1G>A Multiple submitters hereditary neoplastic syndrome
• p.Ala126Val Multiple submitters PTEN hamartoma tumor syndrome
• p.Arg130Leu Multiple submitters hereditary neoplastic syndrome
• p.Arg159Gly Multiple submitters hereditary neoplastic syndrome
• p.Arg15Ser Multiple submitters hereditary neoplastic syndrome
• p.Arg173His Multiple submitters PTEN hamartoma tumor syndrome
• p.Arg233Ter Multiple submitters hereditary neoplastic syndrome
• p.Asn48Lys Multiple submitters hereditary neoplastic syndrome
• p.Asp24Gly Multiple submitters hereditary neoplastic syndrome
• p.Asp24Val Multiple submitters Cowden syndrome 1
• p.Asp252Val Multiple submitters Cowden disease
• p.Asp310Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp326_Lys330delinsAlaTer Multiple submitters hereditary neoplastic syndrome
• p.Asp92Ala Multiple submitters hereditary neoplastic syndrome
• p.Asp92Gly Multiple submitters Autosomal dominant PTEN-related disorders
• p.Asp92Tyr Multiple submitters PTEN hamartoma tumor syndrome
• p.Asp92Val Multiple submitters hereditary neoplastic syndrome
• p.Cys124Ser Multiple submitters hereditary neoplastic syndrome
• p.Cys124Trp Multiple submitters hereditary neoplastic syndrome
• p.Cys124Tyr Multiple submitters hereditary neoplastic syndrome
• p.Cys136Arg Multiple submitters Cowden syndrome 1
• p.Cys136Phe Multiple submitters hereditary neoplastic syndrome
• p.Cys296Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln261Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Gln87Ter Multiple submitters Cowden syndrome 1
• p.Glu235fs Multiple submitters Cowden syndrome 1
• p.Glu373fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Gly127Arg Multiple submitters Cowden syndrome 1
• p.Gly129Arg Multiple submitters PTEN hamartoma tumor syndrome
• p.Gly129Glu Multiple submitters hereditary neoplastic syndrome
• p.Gly132Val Multiple submitters hereditary neoplastic syndrome
• p.Gly165Arg Multiple submitters PTEN hamartoma tumor syndrome
• p.Gly165Val Multiple submitters macrocephaly-autism syndrome
• p.Gly209Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.His123Gln Multiple submitters PTEN hamartoma tumor syndrome
• p.His123Tyr Multiple submitters PTEN hamartoma tumor syndrome
• p.His64Pro Multiple submitters PTEN-related disorder
• p.His75_Tyr76insTer Multiple submitters Cowden syndrome 1
• p.His93Tyr Multiple submitters Cowden syndrome 1
• p.Ile101Asn Multiple submitters hereditary neoplastic syndrome
• p.Ile101Thr Multiple submitters glioma susceptibility 2
• p.Ile135Lys Multiple submitters prostate cancer
• p.Ile135Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ile253Asn Multiple submitters hereditary neoplastic syndrome
• p.Ile5fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu108Pro Multiple submitters hereditary neoplastic syndrome
• p.Leu247fs Multiple submitters hereditary neoplastic syndrome
• p.Leu295_Cys296insTer Multiple submitters hereditary neoplastic syndrome
• p.Leu325_Asp326del Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu98Arg Multiple submitters hereditary neoplastic syndrome
• p.Leu98Pro Multiple submitters macrocephaly-autism syndrome
• p.Lys128Arg Multiple submitters hereditary neoplastic syndrome
• p.Lys13Glu Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys144Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys163Ter Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys344fs Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys66Ter Multiple submitters PTEN-related disorder
• p.Met134Thr Multiple submitters PTEN hamartoma tumor syndrome
• p.Met1Arg Multiple submitters syndromic microphthalmia
• p.Met35_Gly36delinsIleArg Multiple submitters hereditary neoplastic syndrome
• p.Phe90Ser Multiple submitters PTEN hamartoma tumor syndrome
• p.Pro96Arg Multiple submitters hereditary neoplastic syndrome
• p.Pro96Gln Multiple submitters PTEN hamartoma tumor syndrome
• p.Ser287Ter Multiple submitters glioma susceptibility 2
• p.Thr26Ile Multiple submitters hereditary neoplastic syndrome
• p.Trp274_Val275insTer Multiple submitters PTEN hamartoma tumor syndrome
• p.Trp274Leu Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr155His Multiple submitters hereditary neoplastic syndrome
• p.Tyr155Ser Multiple submitters Cowden syndrome 1
• p.Tyr16Asp Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr68Asp Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr68Cys Multiple submitters hereditary neoplastic syndrome
• p.Tyr68His Multiple submitters macrocephaly-autism syndrome

Likely pathogenic 245

• c.1027-1852A>G Expert panel PTEN hamartoma tumor syndrome
• c.165-1G>A Expert panel PTEN hamartoma tumor syndrome
• c.209+5G>C Expert panel PTEN hamartoma tumor syndrome
• c.635-3C>G Expert panel PTEN hamartoma tumor syndrome
• p.Ala39Thr Expert panel PTEN hamartoma tumor syndrome
• p.Ala39Val Expert panel PTEN hamartoma tumor syndrome
• p.Arg15Lys Expert panel PTEN hamartoma tumor syndrome
• p.Arg15Thr Expert panel PTEN hamartoma tumor syndrome
• p.Arg47Lys Expert panel PTEN hamartoma tumor syndrome
• p.Asn31Asp Expert panel PTEN hamartoma tumor syndrome
• p.Asp22His Expert panel PTEN hamartoma tumor syndrome
• p.Asp22Tyr Expert panel PTEN hamartoma tumor syndrome
• p.Asp52del Expert panel PTEN hamartoma tumor syndrome
• p.Asp92Glu Expert panel PTEN hamartoma tumor syndrome
• p.Cys71Trp Expert panel PTEN hamartoma tumor syndrome
• p.Gln171Arg Expert panel PTEN hamartoma tumor syndrome
• p.Gln171Glu Expert panel PTEN hamartoma tumor syndrome
• p.Gly127Glu Expert panel PTEN hamartoma tumor syndrome
• p.Gly20Val Expert panel PTEN hamartoma tumor syndrome
• p.Gly36Arg Expert panel PTEN hamartoma tumor syndrome
• p.His141Pro Expert panel PTEN hamartoma tumor syndrome
• p.His61Arg Expert panel PTEN hamartoma tumor syndrome
• p.His61Asp Expert panel PTEN hamartoma tumor syndrome
• p.His93Pro Expert panel PTEN hamartoma tumor syndrome
• p.Ile33del Expert panel PTEN hamartoma tumor syndrome
• p.Leu112Val Expert panel PTEN hamartoma tumor syndrome
• p.Leu23Val Expert panel PTEN hamartoma tumor syndrome
• p.Leu247Ser Expert panel PTEN hamartoma tumor syndrome
• p.Leu316Pro Expert panel PTEN hamartoma tumor syndrome
• p.Leu320Ser Expert panel PTEN hamartoma tumor syndrome
• p.Leu57Trp Expert panel PTEN hamartoma tumor syndrome
• p.Leu70Pro Expert panel PTEN hamartoma tumor syndrome
• p.Lys322Ter Expert panel PTEN hamartoma tumor syndrome
• p.Lys66Asn Expert panel PTEN hamartoma tumor syndrome
• p.Phe200Ser Expert panel PTEN hamartoma tumor syndrome
• p.Phe241Ser Expert panel PTEN hamartoma tumor syndrome
• p.Pro38His Expert panel PTEN hamartoma tumor syndrome
• p.Pro96Leu Expert panel PTEN hamartoma tumor syndrome
• p.Thr167Asn Expert panel PTEN hamartoma tumor syndrome
• p.Thr277Arg Expert panel PTEN hamartoma tumor syndrome
• p.Tyr174Asn Expert panel PTEN hamartoma tumor syndrome
• p.Tyr174Cys Expert panel PTEN hamartoma tumor syndrome
• p.Tyr177Cys Expert panel PTEN hamartoma tumor syndrome
• p.Tyr178del Expert panel PTEN hamartoma tumor syndrome
• p.Tyr188Ter Expert panel PTEN hamartoma tumor syndrome
• p.Tyr27Cys Expert panel PTEN hamartoma tumor syndrome
• p.Tyr27Ser Expert panel PTEN hamartoma tumor syndrome
• p.Val119Ala Expert panel PTEN hamartoma tumor syndrome
• p.Val119Phe Expert panel PTEN hamartoma tumor syndrome
• c.1027-1G>T Multiple submitters Cowden syndrome 1
• c.156_164+4delinsCAT Multiple submitters PTEN hamartoma tumor syndrome
• c.165-17_165del Multiple submitters hereditary neoplastic syndrome
• c.165-9T>A Multiple submitters Cowden syndrome 1
• c.209+2T>G Multiple submitters PTEN hamartoma tumor syndrome
• c.209+5G>T Multiple submitters hereditary neoplastic syndrome
• c.210-12C>G Multiple submitters Cowden syndrome 1
• c.210-1G>C Multiple submitters Cowden syndrome 1
• c.210-6_210-2del Multiple submitters PTEN hamartoma tumor syndrome
• c.253+5G>A Multiple submitters hereditary neoplastic syndrome
• c.253+5G>C Multiple submitters Cowden syndrome 1
• c.492+2del Multiple submitters PTEN hamartoma tumor syndrome
• c.634+5G>T Multiple submitters PTEN hamartoma tumor syndrome
• c.635-32_643del Multiple submitters Cowden syndrome 1
• c.80-2A>C Multiple submitters hereditary neoplastic syndrome
• p.Ala126Thr Multiple submitters PTEN hamartoma tumor syndrome
• p.Arg142Pro Multiple submitters hereditary neoplastic syndrome
• p.Arg173Leu Multiple submitters macrocephaly-autism syndrome
• p.Asp162Glu Multiple submitters Cowden disease
• p.Asp326Gly Multiple submitters hereditary neoplastic syndrome
• p.Cys105Arg Multiple submitters Cowden syndrome 1
• p.His118Pro Multiple submitters hereditary neoplastic syndrome
• p.His141Leu Multiple submitters PTEN hamartoma tumor syndrome
• p.Ile5Thr Multiple submitters macrocephaly-autism syndrome
• p.Lys128Asn Multiple submitters hereditary neoplastic syndrome
• p.Lys128Glu Multiple submitters hereditary neoplastic syndrome
• p.Lys254Thr Multiple submitters hereditary neoplastic syndrome
• p.Met35Thr Multiple submitters Cowden syndrome 1
• p.Ser170Asn Multiple submitters PTEN hamartoma tumor syndrome
• p.Thr26Asn Multiple submitters hereditary neoplastic syndrome
• p.Tyr27Asn Multiple submitters hereditary neoplastic syndrome
• p.Val119Leu Multiple submitters hereditary neoplastic syndrome
• p.Val249Gly Multiple submitters PTEN hamartoma tumor syndrome
• p.Val255Glu Multiple submitters PTEN-related disorder
• c.1026+1_1026+2delinsTC Single submitter Cowden syndrome 1
• c.1026+1del Single submitter hereditary neoplastic syndrome
• c.1026+2_1026+19delinsG Single submitter Cowden syndrome 1
• c.1026+2T>A Single submitter Cowden syndrome 1
• c.1026+2T>C Single submitter Cowden syndrome 1
• c.1027-11_1028del Single submitter Cowden syndrome 1
• c.1027-29_1029del Single submitter Cowden syndrome 1
• c.1027-4_1027-2delinsGTC Single submitter Cowden syndrome 1
• c.1161_1162insALU Single submitter hereditary neoplastic syndrome
• c.126_164+5del Single submitter Cowden syndrome 1
• c.154_164+1delinsAATATTGTTAATAA Single submitter Cowden syndrome 1
• c.(164+1_165-1 Single submitter hereditary neoplastic syndrome
• c.165-34A>G Single submitter hereditary neoplastic syndrome
• c.165-36_195del Single submitter Cowden syndrome 1
• c.165-7_175del Single submitter Cowden syndrome 1
• c.165-9_170del Single submitter
• c.187_209+4del Single submitter Cowden syndrome 1
• c.194_209+28del Single submitter Cowden syndrome 1
• c.209+2047A>G Single submitter hereditary neoplastic syndrome
• c.209+4del Single submitter hereditary neoplastic syndrome
• c.210-1G>T Single submitter hereditary neoplastic syndrome
• c.210-2_210-1delinsT Single submitter hereditary neoplastic syndrome
• c.210-27_223delinsATCTTATTAACTTATTATAACTTATTATGACTTATTATAACTT Single submitter Cowden syndrome 1
• c.210-7_220del Single submitter PTEN hamartoma tumor syndrome
• c.253+5_253+13del Single submitter hereditary neoplastic syndrome
• c.254-19_326del Single submitter Cowden syndrome 1
• c.254-1del Single submitter PTEN hamartoma tumor syndrome
• c.254-2_254-1del Single submitter gastric cancer
• c.254-21G>C Single submitter PTEN hamartoma tumor syndrome
• c.254-2A>C Single submitter Cowden syndrome 1
• c.420_421insALU Single submitter hereditary neoplastic syndrome
• c.423_424insSVA Single submitter hereditary neoplastic syndrome
• c.461_492+7del Single submitter Cowden syndrome 1
• c.492_492+1delinsA Single submitter Cowden syndrome 1
• c.492+1_492+5del Single submitter PTEN hamartoma tumor syndrome
• c.492+2T>A Single submitter hereditary neoplastic syndrome
• c.493-2_503del Single submitter hereditary neoplastic syndrome
• c.493-2A>T Single submitter hereditary neoplastic syndrome
• c.493-9349A>G Single submitter hereditary neoplastic syndrome
• c.50_79+23del Single submitter Cowden syndrome 1
• c.545_546insALU Single submitter hereditary neoplastic syndrome
• c.634+2_634+3insC Single submitter hereditary neoplastic syndrome
• c.634+3_634+6del Single submitter hereditary neoplastic syndrome
• c.635-1_636delinsTTTAA Single submitter
• c.635-33_653del Single submitter Cowden syndrome 1
• c.635-3C>A Single submitter Cowden syndrome 1
• c.79+1G>A Single submitter PTEN hamartoma tumor syndrome
• c.79+1G>C Single submitter PTEN hamartoma tumor syndrome
• c.79+2_79+4delinsACA Single submitter PTEN hamartoma tumor syndrome
• c.80-12_88dup Single submitter hereditary neoplastic syndrome
• c.80-5_82del Single submitter hereditary neoplastic syndrome
• c.802-2_816del Single submitter Cowden syndrome 1
• c.802-37_815del Single submitter Cowden syndrome 1
• c.802-4_804delinsA Single submitter PTEN hamartoma tumor syndrome
• c.802-54_883del Single submitter Cowden syndrome 1
• c.802-8_839del Single submitter Cowden syndrome 1
• c.-1001T>C Single submitter PTEN hamartoma tumor syndrome
• c.-1111A>G Single submitter PTEN hamartoma tumor syndrome
• c.-116dup Single submitter autism spectrum disorder
• c.-1178C>T Single submitter PTEN hamartoma tumor syndrome
• c.-1239A>G Single submitter PTEN hamartoma tumor syndrome
• c.-381GGC[4] Single submitter myeloproliferative neoplasm, unclassifiable
• c.-60dup Single submitter autism spectrum disorder
• c.-854C>G Single submitter PTEN hamartoma tumor syndrome
• c.*65T>A Single submitter PTEN hamartoma tumor syndrome
• c.*75_*91delinsCTATGGCAATAGGACA Single submitter PTEN hamartoma tumor syndrome
• p.22DL[1] Single submitter hereditary neoplastic syndrome
• p.Ala120fs Single submitter glioma susceptibility 2
• p.Ala121Glu Single submitter Cowden syndrome 1
• p.Ala121Pro Single submitter prostate cancer, hereditary, 1
• p.Ala121Ser Single submitter hereditary neoplastic syndrome
• p.Ala121Thr Single submitter prostate cancer, hereditary, 1
• p.Ala137Glu Single submitter
• p.Arg15Gly Single submitter hereditary neoplastic syndrome
• p.Arg15Ile Single submitter hereditary neoplastic syndrome
• p.Arg335fs Single submitter hereditary neoplastic syndrome
• p.Arg378_Tyr379insTer Single submitter PTEN hamartoma tumor syndrome
• p.Asn12Ile Single submitter PTEN hamartoma tumor syndrome
• p.Asn323fs Single submitter Cowden syndrome 1
• p.Asp107Gly Single submitter hereditary neoplastic syndrome
• p.Asp116fs Single submitter Cowden syndrome 1
• p.Asp22Val Single submitter hereditary neoplastic syndrome
• p.Asp24_Leu25insTer Single submitter PTEN hamartoma tumor syndrome
• p.Asp326His Single submitter hereditary neoplastic syndrome
• p.Asp368fs Single submitter hereditary neoplastic syndrome
• p.Asp92Asn Single submitter
• p.Cys105_Glu106del Single submitter hereditary neoplastic syndrome
• p.Cys105Gly Single submitter hereditary neoplastic syndrome
• p.Glu157_Val158insTer Single submitter Cowden syndrome 1
• p.Glu288Ter Single submitter PTEN-related disorder
• p.Glu91_His93del Single submitter Cowden syndrome 1
• p.Glu99fs Single submitter Cowden syndrome 1
• p.Gly209fs Single submitter Cowden syndrome 1
• p.Gly251Val Single submitter hereditary neoplastic syndrome
• p.His123Asn Single submitter
• p.His123Leu Single submitter Cowden syndrome 1
• p.His272Pro Single submitter hereditary neoplastic syndrome
• p.His61Pro Single submitter hereditary neoplastic syndrome
• p.His61Tyr Single submitter Autosomal dominant PTEN-related disorders
• p.His93_Asp107del Single submitter glioma susceptibility 2
• p.His93Asn Single submitter Loss of consciousness
• p.His93Asp Single submitter PTEN hamartoma tumor syndrome
• p.Ile300fs Single submitter Cowden syndrome 1
• p.Ile306fs Single submitter Cowden syndrome 1
• p.Ile32Ser Single submitter PTEN hamartoma tumor syndrome
• p.Ile67Arg Single submitter PTEN hamartoma tumor syndrome
• p.Leu100Phe Single submitter
• p.Leu108Arg Single submitter PTEN hamartoma tumor syndrome
• p.Leu108Phe Single submitter hereditary neoplastic syndrome
• p.Leu152Gln Single submitter Cowden syndrome 1
• p.Leu247_Pro248del Single submitter hereditary neoplastic syndrome
• p.Lys102fs Single submitter Cowden syndrome 1
• p.Lys125Arg Single submitter macrocephaly-autism syndrome
• p.Lys13Gln Single submitter PTEN hamartoma tumor syndrome
• p.Lys221Glu Single submitter ⚠
• p.Lys237_Glu242del Single submitter hereditary neoplastic syndrome
• p.Lys237_Phe241delinsAsn Single submitter hereditary neoplastic syndrome
• p.Lys342Asn Single submitter PTEN hamartoma tumor syndrome
• p.Lys66Glu Single submitter
• p.Lys6Ile Single submitter
• p.Met134Arg Single submitter
• p.Met198Lys Single submitter PTEN hamartoma tumor syndrome
• p.Met1fs Single submitter Cowden syndrome 1
• p.Met1Leu Single submitter Cowden syndrome 1
• p.Met35fs Single submitter hereditary neoplastic syndrome
• p.Met35Ile Single submitter PTEN hamartoma tumor syndrome
• p.Phe195Ser Single submitter hereditary neoplastic syndrome
• p.Phe200Val Single submitter hereditary neoplastic syndrome ⚠
• p.Phe238_Lys254del Single submitter hereditary neoplastic syndrome
• p.Phe241_Asn262del Single submitter Cowden syndrome 1
• p.Phe241del Single submitter Cowden syndrome 1
• p.Phe341fs Single submitter Cowden disease
• p.Phe347fs Single submitter Cowden syndrome 1
• p.Phe56Ser Single submitter hereditary neoplastic syndrome
• p.Phe81Cys Single submitter
• p.Phe90Leu Single submitter hereditary breast carcinoma
• p.Pro38Thr Single submitter hereditary neoplastic syndrome
• p.Ser170Thr Single submitter hereditary neoplastic syndrome
• p.Ser380fs Single submitter PTEN hamartoma tumor syndrome
• p.Ter404Ser Single submitter hereditary neoplastic syndrome
• p.Ter404Trp Single submitter
• p.Thr160Ile Single submitter
• p.Thr277fs Single submitter PTEN-related disorder
• p.Tyr155Asn Single submitter hereditary neoplastic syndrome
• p.Tyr177Asn Single submitter Cowden syndrome 1
• p.Tyr177His Single submitter macrocephaly-autism syndrome
• p.Tyr178Asn Single submitter hereditary neoplastic syndrome
• p.Tyr29_Ile33del Single submitter hereditary neoplastic syndrome
• p.Tyr315fs Single submitter
• p.Tyr336fs Single submitter PTEN-related disorder
• p.Tyr46Asn Single submitter PTEN hamartoma tumor syndrome
• p.Tyr46His Single submitter
• p.Val119Gly Single submitter hereditary neoplastic syndrome
• p.Val166Glu Single submitter hereditary neoplastic syndrome
• p.Val255_Glu256insPhe Single submitter PTEN hamartoma tumor syndrome
• p.Val255Gly Single submitter macrocephaly-autism syndrome
• p.Val290Lysfs Single submitter macrocephaly-autism syndrome
• p.Val351fs Single submitter Cowden syndrome 1
• p.Val53_Val54insTer Single submitter Cowden syndrome 1
• p.Val53Ala Single submitter
• p.Phe154Cys No assertion criteria
• p.Tyr176Ter No assertion criteria

Conflicting classifications of pathogenicity 200

• c.1026+11_1026+15del Single submitter familial meningioma
• c.1026+6T>A Single submitter hereditary neoplastic syndrome
• c.1027-6C>A Single submitter PTEN hamartoma tumor syndrome
• c.164+4A>G Single submitter PTEN hamartoma tumor syndrome
• c.165-5T>G Single submitter glioma susceptibility 2
• c.209+10T>C Single submitter hereditary neoplastic syndrome
• c.209+3A>G Single submitter PTEN hamartoma tumor syndrome
• c.209+9_209+10delinsCC Single submitter hereditary neoplastic syndrome
• c.210-11T>A Single submitter PTEN hamartoma tumor syndrome
• c.210-4T>C Single submitter PTEN hamartoma tumor syndrome
• c.210-8del Single submitter hereditary neoplastic syndrome
• c.210-8dup Single submitter PTEN hamartoma tumor syndrome
• c.210-9T>C Single submitter Cowden syndrome 1
• c.253+7A>G Single submitter PTEN hamartoma tumor syndrome
• c.254-18G>T Single submitter PTEN hamartoma tumor syndrome
• c.254-20A>G Single submitter Cowden syndrome 1
• c.254-26A>T Single submitter PTEN hamartoma tumor syndrome
• c.254-3_254-2del Single submitter PTEN hamartoma tumor syndrome ⚠
• c.254-5C>T Single submitter hereditary neoplastic syndrome
• c.254-6C>G Single submitter hereditary neoplastic syndrome
• c.254-6C>T Single submitter hereditary neoplastic syndrome
• c.492+14T>C Single submitter PTEN hamartoma tumor syndrome
• c.493-6C>G Single submitter PTEN hamartoma tumor syndrome
• c.634+3A>C Single submitter hereditary neoplastic syndrome
• c.635-8C>A Single submitter PTEN hamartoma tumor syndrome
• c.80-15A>G Single submitter PTEN hamartoma tumor syndrome
• c.80-18C>G Single submitter PTEN hamartoma tumor syndrome
• c.80-19C>A Single submitter hereditary neoplastic syndrome
• c.801+9T>C Single submitter Cowden syndrome 1
• c.802-5_802-3del Single submitter Breast and/or ovarian cancer
• c.802-51_802-13del Single submitter macrocephaly-autism syndrome
• c.-1088_-1063del26 Single submitter PTEN-related disorder
• c.-111G>T Single submitter PTEN hamartoma tumor syndrome
• c.-121A>G Single submitter PTEN hamartoma tumor syndrome
• c.-14A>C Single submitter hereditary neoplastic syndrome
• c.-165C>G Single submitter hereditary neoplastic syndrome
• c.-216C>T Single submitter
• c.-461G>A Single submitter hereditary neoplastic syndrome
• c.-475G>A Single submitter hereditary breast ovarian cancer syndrome
• c.-701G>A Single submitter hereditary neoplastic syndrome
• c.-714G>A Single submitter hereditary neoplastic syndrome
• c.-936G>A Single submitter hereditary neoplastic syndrome
• c.*1028T>C Single submitter PTEN hamartoma tumor syndrome
• c.*10dup Single submitter hereditary neoplastic syndrome
• c.*10T>A Single submitter hereditary neoplastic syndrome
• c.*13C>T Single submitter hereditary neoplastic syndrome
• c.*1499C>T Single submitter PTEN hamartoma tumor syndrome
• c.*1583G>A Single submitter PTEN hamartoma tumor syndrome
• c.*1A>T Single submitter hereditary neoplastic syndrome
• c.*2437A>G Single submitter PTEN hamartoma tumor syndrome
• c.*282G>A Single submitter PTEN hamartoma tumor syndrome
• c.*2T>A Single submitter Cowden syndrome 1
• c.*4T>A Single submitter Cowden syndrome 1
• c.*667A>T Single submitter squamous cell carcinoma
• c.*6T>C Single submitter Cowden syndrome 1
• c.*7_*10dup Single submitter hereditary neoplastic syndrome
• c.*8T>G Single submitter Cowden syndrome 1
• c.*970C>A Single submitter PTEN hamartoma tumor syndrome
• p.Ala120Thr Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ala126Asp Single submitter Cowden syndrome 1 ⚠
• p.Ala34= Single submitter hereditary neoplastic syndrome
• p.Ala34Thr Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ala79Ser Single submitter Cowden syndrome 1 ⚠
• p.Ala86= Single submitter hereditary neoplastic syndrome
• p.Arg142= Single submitter PTEN hamartoma tumor syndrome
• p.Arg142Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg159Met Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Arg173Ser Single submitter Cowden syndrome 1 ⚠
• p.Arg308Cys Single submitter macrocephaly-autism syndrome ⚠
• p.Arg308His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg335= Single submitter hereditary neoplastic syndrome
• p.Asn117His Single submitter macrocephaly-autism syndrome ⚠
• p.Asn117Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn228Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn276Asp Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Asn276Ile Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Asn334Ser Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Asn340His Single submitter hereditary neoplastic syndrome ⚠
• p.Asn356Asp Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Asn372Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn69His Single submitter hereditary neoplastic syndrome ⚠
• p.Asn69Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asp162Val Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Asp22Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp301Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp312Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp58= Single submitter hereditary neoplastic syndrome
• p.Cys105Phe Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Cys211= Single submitter hereditary neoplastic syndrome
• p.Cys296Tyr Single submitter glioma susceptibility 2 ⚠
• p.Cys71Phe Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Gln110Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gln171His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln171Pro Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Gln219Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Gln261= Single submitter hereditary neoplastic syndrome
• p.Gln87= Single submitter PTEN hamartoma tumor syndrome
• p.Glu150Gly Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Glu157Gly Single submitter macrocephaly-autism syndrome ⚠
• p.Glu307Gln Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Glu314Ala Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Glu358= Single submitter hereditary neoplastic syndrome
• p.Glu358Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu390Ter Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Glu43Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gly127Ala Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Gly165Glu Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Gly209Arg Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Gly251Asp Single submitter Cowden syndrome 1 ⚠
• p.His118Tyr Single submitter PTEN hamartoma tumor syndrome ⚠
• p.His123= Single submitter PTEN hamartoma tumor syndrome
• p.His141Arg Single submitter hereditary neoplastic syndrome ⚠
• p.His376fs Single submitter hereditary neoplastic syndrome ⚠
• p.His61Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ile122Ser Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ile135Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile168Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile203Val Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ile253Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ile28Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ile28Thr Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ile303Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Leu112Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Leu193Pro Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Leu220Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Leu23Ser Single submitter hereditary breast ovarian cancer syndrome ⚠
• p.Leu25Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Leu325Arg Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Leu325Pro Single submitter Cowden syndrome 1 ⚠
• p.Leu57Ser Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Leu70Arg Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Lys128= Single submitter PTEN hamartoma tumor syndrome
• p.Lys147Arg Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Lys164= Single submitter hereditary neoplastic syndrome
• p.Lys260Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys266Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Lys402Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Met198Ile Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Met199Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Met199Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met205Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met239Thr Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Phe104Ser Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Phe241Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Phe258= Single submitter Cowden syndrome 1
• p.Phe81Leu Single submitter macrocephaly-autism syndrome ⚠
• p.Pro204= Single submitter PTEN hamartoma tumor syndrome
• p.Pro204Leu Single submitter Cowden syndrome 1 ⚠
• p.Pro204Ser Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Pro248Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro354= Single submitter Cowden syndrome 1
• p.Pro354Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Pro357Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Pro391Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro95Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Pro95Ser Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Pro96Ala Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ser227= Single submitter hereditary neoplastic syndrome
• p.Ser294Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser302Asn Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ser302Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser305Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser361Arg Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ser364Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Ser364Pro Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Ser59Pro Single submitter Cowden syndrome 1 ⚠
• p.Thr160Pro Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Thr167Ala Single submitter Cowden syndrome 1 ⚠
• p.Thr319Ile Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Thr363Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr363Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Trp111Gly Single submitter PTEN-related disorder ⚠
• p.Tyr174His Single submitter Cowden disease ⚠
• p.Tyr176Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr177Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr178Cys Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Tyr188Asp Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Tyr188Cys Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Tyr225His Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr346Ter Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Tyr377Phe Single submitter glioma susceptibility 2 ⚠
• p.Tyr46Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr46Cys Single submitter Autosomal dominant PTEN-related disorders ⚠
• p.Tyr65Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr68Asn Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Tyr68Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr76= Single submitter PTEN hamartoma tumor syndrome
• p.Val133Glu Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Val133Ile Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Val158Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Val166Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val249Glu Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Val275= Single submitter Cowden syndrome 1
• p.Val275Ile Single submitter glioma susceptibility 2 ⚠
• p.Val290Leu Single submitter PTEN hamartoma tumor syndrome ⚠
• p.Val369= Single submitter Cowden syndrome 1
• p.Val45Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val54del Single submitter hereditary neoplastic syndrome
• p.Val54Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val85= Single submitter PTEN hamartoma tumor syndrome

Benign 89

• c.1026+32T>G Expert panel PTEN hamartoma tumor syndrome
• c.210-39A>G Expert panel PTEN hamartoma tumor syndrome
• c.210-7_210-3del Expert panel PTEN hamartoma tumor syndrome
• c.254-30dup Expert panel PTEN hamartoma tumor syndrome
• c.79+35C>T Expert panel PTEN hamartoma tumor syndrome
• c.802-51_802-14del Expert panel PTEN hamartoma tumor syndrome
• c.-1059C>G Expert panel PTEN hamartoma tumor syndrome
• c.-1311T>C Expert panel PTEN hamartoma tumor syndrome
• c.-903G>A Expert panel PTEN hamartoma tumor syndrome
• c.-9C>G Expert panel PTEN hamartoma tumor syndrome
• p.Ala79Thr Expert panel PTEN hamartoma tumor syndrome
• c.1026+219C>T Multiple submitters
• c.253+109_253+110insTCTTA Multiple submitters
• c.634+136G>A Multiple submitters
• c.80-96A>G Multiple submitters
• c.-284C>T Multiple submitters PTEN hamartoma tumor syndrome
• c.-326G>C Multiple submitters
• c.*1516T>C Multiple submitters PTEN hamartoma tumor syndrome
• c.*1945G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.*1955T>A Multiple submitters PTEN hamartoma tumor syndrome
• c.164+19dup Single submitter PTEN hamartoma tumor syndrome
• c.209+76A>C Single submitter
• c.210-16del Single submitter PTEN hamartoma tumor syndrome
• c.210-48_210-44del Single submitter
• c.253+66A>G Single submitter
• c.254-23C>T Single submitter PTEN hamartoma tumor syndrome
• c.254-29C>T Single submitter PTEN hamartoma tumor syndrome
• c.254-316T>C Single submitter
• c.254-37T>C Single submitter
• c.492+14del Single submitter PTEN hamartoma tumor syndrome
• c.492+217C>T Single submitter
• c.492+292T>C Single submitter
• c.493-31A>G Single submitter Cowden syndrome 1
• c.493-42A>G Single submitter
• c.493-68A>G Single submitter
• c.79+778C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 2
• c.80-20del Single submitter Cowden syndrome 1
• c.80-956_80-58del Single submitter hereditary neoplastic syndrome
• c.802-207T>C Single submitter
• c.802-24_802-19del Single submitter Cowden syndrome 1
• c.802-27TTTTC[3] Single submitter Cowden syndrome 1
• c.802-5T>G Single submitter Cowden syndrome 1
• c.-1049C>T Single submitter hereditary neoplastic syndrome
• c.-1085T>C Single submitter PTEN hamartoma tumor syndrome
• c.-152A>G Single submitter PTEN hamartoma tumor syndrome
• c.-512G>A Single submitter hereditary neoplastic syndrome
• c.-663_-652del Single submitter hereditary neoplastic syndrome
• c.*106A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 2
• c.*1237A>G Single submitter PTEN hamartoma tumor syndrome
• c.*1447_*1459del Single submitter
• c.*1565C>A Single submitter PTEN hamartoma tumor syndrome
• c.*1695C>A Single submitter PTEN hamartoma tumor syndrome
• c.*1954A>T Single submitter PTEN hamartoma tumor syndrome
• c.*1A>G Single submitter Cowden syndrome 1
• c.*2162A>G Single submitter PTEN hamartoma tumor syndrome
• c.*2185C>T Single submitter PTEN hamartoma tumor syndrome
• c.*2415C>G Single submitter PTEN hamartoma tumor syndrome
• c.*353C>T Single submitter PTEN hamartoma tumor syndrome
• c.*5T>G Single submitter Cowden syndrome 1
• c.*75del Single submitter PTEN hamartoma tumor syndrome
• c.*788T>C Single submitter PTEN hamartoma tumor syndrome
• c.*8_*10del Single submitter Cowden syndrome 1
• p.Arg15= Single submitter Cowden syndrome 1
• p.Arg189= Single submitter Cowden syndrome 1
• p.Asp324= Single submitter Cowden syndrome 1
• p.Asp92= Single submitter Cowden syndrome 1
• p.Glu394= Single submitter Cowden syndrome 1
• p.Gly165= Single submitter Cowden syndrome 1
• p.Gly209= Single submitter Cowden syndrome 1
• p.Gly44= Single submitter Cowden syndrome 1
• p.Leu112= Single submitter Cowden syndrome 1
• p.Leu320= Single submitter
• p.Leu57= Single submitter Cowden syndrome 1
• p.Lys269= Single submitter Cowden syndrome 1
• p.Lys402= Single submitter Cowden syndrome 1
• p.Pro30= Single submitter Cowden syndrome 1
• p.Pro96= Single submitter Cowden syndrome 1
• p.Ser170= Single submitter Cowden syndrome 1
• p.Ser226= Single submitter Cowden syndrome 1
• p.Ser302= Single submitter Cowden syndrome 1
• p.Ser305= Single submitter Cowden syndrome 1
• p.Ser380= Single submitter Cowden syndrome 1
• p.Thr398= Single submitter Cowden syndrome 1
• p.Tyr177= Single submitter Cowden syndrome 1
• p.Val249= Single submitter Cowden syndrome 1
• c.492+7414A>G No assertion criteria
• c.493-6409G>C No assertion criteria
• c.79+4229A>T No assertion criteria
• c.-367del No assertion criteria

Benign/Likely benign 170

• c.1026+121C>T Multiple submitters hereditary neoplastic syndrome
• c.1026+20T>G Multiple submitters hereditary neoplastic syndrome
• c.1027-11del Multiple submitters PTEN hamartoma tumor syndrome
• c.165-5T>C Multiple submitters Cowden syndrome 1
• c.209+84G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.254-34T>G Multiple submitters PTEN hamartoma tumor syndrome
• c.254-8dup Multiple submitters PTEN hamartoma tumor syndrome
• c.492+14dup Multiple submitters hereditary neoplastic syndrome
• c.493-12del Multiple submitters Cowden syndrome 1
• c.493-12dup Multiple submitters PTEN hamartoma tumor syndrome
• c.635-16G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.80-11A>G Multiple submitters PTEN hamartoma tumor syndrome
• c.801+18A>T Multiple submitters hereditary neoplastic syndrome
• c.802-12T>C Multiple submitters hereditary neoplastic syndrome
• c.802-18_802-14del Multiple submitters Breast and/or ovarian cancer
• c.802-18C>T Multiple submitters hereditary neoplastic syndrome
• c.802-23_802-13del Multiple submitters Cowden syndrome 1
• c.802-29_802-20del Multiple submitters Cowden syndrome 1
• c.802-3del Multiple submitters hereditary neoplastic syndrome
• c.802-3dup Multiple submitters glioma susceptibility 2
• c.802-4_802-3del Multiple submitters hereditary neoplastic syndrome
• c.802-4_802-3dup Multiple submitters macrocephaly-autism syndrome
• c.802-5_802-3dup Multiple submitters Cowden syndrome 1
• c.802-6_802-3dup Multiple submitters hereditary neoplastic syndrome
• c.-1027C>A Multiple submitters hereditary neoplastic syndrome
• c.-1060C>G Multiple submitters hereditary neoplastic syndrome
• c.-500GGC[6] Multiple submitters hereditary neoplastic syndrome
• c.-500GGC[7] Multiple submitters hereditary neoplastic syndrome
• c.-511G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.-513G>C Multiple submitters Hereditary cancer
• c.-546GGC[6] Multiple submitters
• c.*1620T>C Multiple submitters PTEN hamartoma tumor syndrome
• c.*1702G>A Multiple submitters PTEN hamartoma tumor syndrome
• c.*2173C>T Multiple submitters PTEN hamartoma tumor syndrome
• c.*7T>G Multiple submitters Cowden syndrome 1
• p.Ala120= Multiple submitters hereditary neoplastic syndrome
• p.Ala137= Multiple submitters PTEN hamartoma tumor syndrome
• p.Ala192= Multiple submitters PTEN hamartoma tumor syndrome
• p.Ala309= Multiple submitters hereditary neoplastic syndrome
• p.Ala333= Multiple submitters Cowden syndrome 1
• p.Ala39= Multiple submitters hereditary neoplastic syndrome
• p.Ala72= Multiple submitters PTEN hamartoma tumor syndrome
• p.Arg173= Multiple submitters Cowden syndrome 1
• p.Arg233= Multiple submitters PTEN hamartoma tumor syndrome
• p.Arg74= Multiple submitters hereditary neoplastic syndrome
• p.Asn117= Multiple submitters PTEN hamartoma tumor syndrome
• p.Asn12= Multiple submitters hereditary neoplastic syndrome
• p.Asn228= Multiple submitters PTEN hamartoma tumor syndrome
• p.Asn31= Multiple submitters hereditary neoplastic syndrome
• p.Asn311= Multiple submitters hereditary neoplastic syndrome
• p.Asn48= Multiple submitters PTEN hamartoma tumor syndrome
• p.Asp107= Multiple submitters Cowden syndrome 1
• p.Asp116= Multiple submitters hereditary neoplastic syndrome
• p.Asp19= Multiple submitters Cowden syndrome 1
• p.Asp236= Multiple submitters PTEN hamartoma tumor syndrome
• p.Asp24= Multiple submitters PTEN hamartoma tumor syndrome
• p.Asp301= Multiple submitters hereditary neoplastic syndrome
• p.Asp375= Multiple submitters hereditary neoplastic syndrome
• p.Asp381= Multiple submitters Cowden syndrome 1
• p.Asp384= Multiple submitters hereditary neoplastic syndrome
• p.Asp395= Multiple submitters PTEN hamartoma tumor syndrome
• p.Asp51= Multiple submitters hereditary neoplastic syndrome
• p.Asp77= Multiple submitters hereditary neoplastic syndrome
• p.Cys136= Multiple submitters Cowden syndrome 1
• p.Cys250= Multiple submitters hereditary neoplastic syndrome
• p.Cys304= Multiple submitters PTEN hamartoma tumor syndrome
• p.Gln110= Multiple submitters PTEN hamartoma tumor syndrome
• p.Gln149= Multiple submitters hereditary neoplastic syndrome
• p.Gln396= Multiple submitters hereditary neoplastic syndrome
• p.Gln399= Multiple submitters Breast and/or ovarian cancer
• p.Gln97= Multiple submitters Cowden syndrome 1
• p.Glu114= Multiple submitters Cowden syndrome 1
• p.Glu150= Multiple submitters Breast and/or ovarian cancer
• p.Glu18= Multiple submitters Cowden syndrome 1
• p.Glu242= Multiple submitters hereditary neoplastic syndrome
• p.Glu256= Multiple submitters hereditary neoplastic syndrome
• p.Glu285= Multiple submitters Cowden syndrome 1
• p.Glu307= Multiple submitters Cowden syndrome 1
• p.Glu314= Multiple submitters PTEN hamartoma tumor syndrome
• p.Glu390= Multiple submitters Cowden syndrome 1
• p.Glu40= Multiple submitters Cowden syndrome 1
• p.Glu43= Multiple submitters PTEN hamartoma tumor syndrome
• p.Glu91= Multiple submitters hereditary neoplastic syndrome
• p.Gly208= Multiple submitters hereditary neoplastic syndrome
• p.Gly293= Multiple submitters Cowden syndrome 1
• p.His118= Multiple submitters Cowden syndrome 1
• p.His141= Multiple submitters PTEN hamartoma tumor syndrome
• p.His185= Multiple submitters PTEN hamartoma tumor syndrome
• p.His272= Multiple submitters hereditary neoplastic syndrome
• p.His61= Multiple submitters hereditary neoplastic syndrome
• p.His93= Multiple submitters PTEN hamartoma tumor syndrome
• p.Ile101= Multiple submitters PTEN hamartoma tumor syndrome
• p.Ile168= Multiple submitters hereditary neoplastic syndrome
• p.Ile300= Multiple submitters PTEN hamartoma tumor syndrome
• p.Ile303= Multiple submitters hereditary neoplastic syndrome
• p.Ile32= Multiple submitters hereditary neoplastic syndrome
• p.Ile5= Multiple submitters hereditary neoplastic syndrome
• p.Leu139= Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu152= Multiple submitters PTEN hamartoma tumor syndrome
• p.Leu181= Multiple submitters hereditary neoplastic syndrome
• p.Leu182= Multiple submitters Cowden syndrome 1
• p.Leu295= Multiple submitters hereditary neoplastic syndrome
• p.Leu316= Multiple submitters hereditary neoplastic syndrome
• p.Leu325= Multiple submitters Cowden syndrome 1
• p.Leu345= Multiple submitters hereditary neoplastic syndrome
• p.Leu98= Multiple submitters hereditary neoplastic syndrome
• p.Lys125= Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys147= Multiple submitters hereditary neoplastic syndrome
• p.Lys163= Multiple submitters hereditary neoplastic syndrome
• p.Lys183= Multiple submitters Cowden syndrome 1
• p.Lys237= Multiple submitters Cowden syndrome 1
• p.Lys260= Multiple submitters hereditary neoplastic syndrome
• p.Lys289= Multiple submitters Cowden syndrome 1
• p.Lys313= Multiple submitters hereditary neoplastic syndrome
• p.Lys322= Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys327= Multiple submitters PTEN hamartoma tumor syndrome
• p.Lys344= Multiple submitters Cowden syndrome 1
• p.Lys60= Multiple submitters Cowden syndrome 1
• p.Lys66= Multiple submitters hereditary neoplastic syndrome
• p.Phe154= Multiple submitters hereditary neoplastic syndrome
• p.Phe195= Multiple submitters PTEN hamartoma tumor syndrome
• p.Phe21= Multiple submitters hereditary neoplastic syndrome
• p.Phe241= Multiple submitters hereditary neoplastic syndrome
• p.Phe243= Multiple submitters hereditary neoplastic syndrome
• p.Phe273= Multiple submitters hereditary neoplastic syndrome
• p.Phe279= Multiple submitters PTEN hamartoma tumor syndrome
• p.Phe337= Multiple submitters hereditary neoplastic syndrome
• p.Phe347= Multiple submitters hereditary neoplastic syndrome
• p.Pro244= Multiple submitters hereditary neoplastic syndrome
• p.Pro246= Multiple submitters hereditary neoplastic syndrome
• p.Pro357= Multiple submitters hereditary neoplastic syndrome
• p.Pro387= Multiple submitters hereditary neoplastic syndrome
• p.Pro391= Multiple submitters Cowden syndrome 1
• p.Ser207= Multiple submitters Cowden syndrome 1
• p.Ser287= Multiple submitters familial meningioma
• p.Ser364= Multiple submitters Cowden syndrome 1
• p.Ser385= Multiple submitters hereditary neoplastic syndrome
• p.Ser59= Multiple submitters hereditary neoplastic syndrome
• p.Thr167= Multiple submitters hereditary neoplastic syndrome
• p.Thr232= Multiple submitters Cowden syndrome 1
• p.Thr277= Multiple submitters hereditary neoplastic syndrome
• p.Thr286= Multiple submitters hereditary neoplastic syndrome
• p.Thr348= Multiple submitters hereditary neoplastic syndrome
• p.Thr350= Multiple submitters hereditary neoplastic syndrome
• p.Thr363= Multiple submitters hereditary neoplastic syndrome
• p.Thr401= Multiple submitters hereditary neoplastic syndrome
• p.Thr78= Multiple submitters hereditary neoplastic syndrome
• p.Tyr138= Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr16= Multiple submitters hereditary neoplastic syndrome
• p.Tyr174= Multiple submitters Cowden syndrome 1
• p.Tyr176= Multiple submitters Cowden syndrome 1
• p.Tyr178= Multiple submitters hereditary neoplastic syndrome
• p.Tyr188= Multiple submitters hereditary neoplastic syndrome
• p.Tyr225= Multiple submitters Cowden syndrome 1
• p.Tyr29= Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr336= Multiple submitters hereditary neoplastic syndrome
• p.Tyr377= Multiple submitters PTEN hamartoma tumor syndrome
• p.Tyr379= Multiple submitters hereditary neoplastic syndrome
• p.Tyr65= Multiple submitters Cowden syndrome 1
• p.Tyr68= Multiple submitters hereditary neoplastic syndrome
• p.Tyr88= Multiple submitters hereditary neoplastic syndrome
• p.Val119= Multiple submitters PTEN hamartoma tumor syndrome
• p.Val166= Multiple submitters hereditary neoplastic syndrome
• p.Val175= Multiple submitters PTEN hamartoma tumor syndrome
• p.Val191= Multiple submitters PTEN hamartoma tumor syndrome
• p.Val317= Multiple submitters hereditary neoplastic syndrome
• p.Val343= Multiple submitters PTEN hamartoma tumor syndrome
• p.Val365= Multiple submitters Cowden syndrome 1
• p.Val45= Multiple submitters PTEN hamartoma tumor syndrome
• p.Val54= Multiple submitters Cowden syndrome 1