MSH3 — 4914 ClinVar variants

Pathogenic 338

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

• c.2814delG Multiple submitters familial adenomatous polyposis 4
• p.Ala283fs Multiple submitters familial adenomatous polyposis 4
• p.Ala990fs Multiple submitters hereditary neoplastic syndrome
• p.Arg150fs Multiple submitters hereditary neoplastic syndrome
• p.Arg159fs Multiple submitters familial adenomatous polyposis 4
• p.Arg85fs Multiple submitters familial adenomatous polyposis 4
• p.Arg890fs Multiple submitters hereditary neoplastic syndrome
• p.Asn118_Ser119insTer Multiple submitters hereditary neoplastic syndrome
• p.Asn591fs Multiple submitters familial adenomatous polyposis 4
• p.Asn613fs Multiple submitters familial adenomatous polyposis 4
• p.Asn739fs Multiple submitters familial adenomatous polyposis 4
• p.Asn880fs Multiple submitters familial adenomatous polyposis 4
• p.Asp1051fs Multiple submitters hereditary neoplastic syndrome
• p.Asp171fs Multiple submitters hereditary neoplastic syndrome
• p.Asp199fs Multiple submitters familial adenomatous polyposis 4
• p.Asp698fs Multiple submitters familial adenomatous polyposis 4
• p.Asp708fs Multiple submitters familial adenomatous polyposis 4
• p.Asp883fs Multiple submitters familial adenomatous polyposis 4
• p.Cys249Ter Multiple submitters familial adenomatous polyposis 4
• p.Cys633fs Multiple submitters familial adenomatous polyposis 4
• p.Gln1024Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln1048Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln148Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln192fs Multiple submitters familial adenomatous polyposis 4
• p.Gln202fs Multiple submitters hereditary neoplastic syndrome
• p.Gln235_Tyr236insTer Multiple submitters familial adenomatous polyposis 4
• p.Gln241Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln394Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln527Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln549fs Multiple submitters familial adenomatous polyposis 4
• p.Gln582Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln636fs Multiple submitters familial adenomatous polyposis 4
• p.Gln664fs Multiple submitters familial adenomatous polyposis 4
• p.Gln743Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln750Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln794Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln798Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln874fs Multiple submitters familial adenomatous polyposis 4
• p.Gln969Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1016Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu139Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu154fs Multiple submitters hereditary neoplastic syndrome
• p.Glu154Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu233Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu261fs Multiple submitters hereditary neoplastic syndrome
• p.Glu456Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu589Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu612fs Multiple submitters hereditary neoplastic syndrome
• p.Glu701fs Multiple submitters familial adenomatous polyposis 4
• p.Glu701Ter Multiple submitters familial adenomatous polyposis 4
• p.Gly844fs Multiple submitters hereditary neoplastic syndrome
• p.His1029fs Multiple submitters familial adenomatous polyposis 4
• p.His275_Leu276insTer Multiple submitters familial adenomatous polyposis 4
• p.His630fs Multiple submitters hereditary neoplastic syndrome
• p.His78fs Multiple submitters hereditary neoplastic syndrome
• p.Ile672_Leu673insTer Multiple submitters familial adenomatous polyposis 4
• p.Ile736fs Multiple submitters hereditary neoplastic syndrome
• p.Ile914fs Multiple submitters familial adenomatous polyposis 4
• p.Ile929fs Multiple submitters familial adenomatous polyposis 4
• p.Ile931fs Multiple submitters familial adenomatous polyposis 4
• p.Ile963fs Multiple submitters familial adenomatous polyposis 4
• p.Leu1006fs Multiple submitters familial adenomatous polyposis 4
• p.Leu134fs Multiple submitters familial adenomatous polyposis 4
• p.Leu197_Phe198insTer Multiple submitters familial adenomatous polyposis 4
• p.Leu432fs Multiple submitters hereditary neoplastic syndrome
• p.Leu439fs Multiple submitters hereditary neoplastic syndrome
• p.Leu560fs Multiple submitters familial adenomatous polyposis 4
• p.Leu645fs Multiple submitters hereditary neoplastic syndrome
• p.Leu673fs Multiple submitters familial adenomatous polyposis 4
• p.Leu686Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys223Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys383fs Multiple submitters hereditary neoplastic syndrome
• p.Lys497Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys526Ter Multiple submitters familial adenomatous polyposis 4
• p.Lys578fs Multiple submitters hereditary neoplastic syndrome
• p.Lys687fs Multiple submitters hereditary neoplastic syndrome
• p.Lys757fs Multiple submitters hereditary neoplastic syndrome
• p.Lys947fs Multiple submitters familial adenomatous polyposis 4
• p.Lys965Ter Multiple submitters familial adenomatous polyposis 4
• p.Met554fs Multiple submitters hereditary neoplastic syndrome
• p.Met892fs Multiple submitters hereditary neoplastic syndrome
• p.Met939fs Multiple submitters familial adenomatous polyposis 4
• p.Phe198fs Multiple submitters hereditary neoplastic syndrome
• p.Phe513fs Multiple submitters familial adenomatous polyposis 4
• p.Phe703fs Multiple submitters familial adenomatous polyposis 4
• p.Phe936fs Multiple submitters familial adenomatous polyposis 4
• p.Phe997fs Multiple submitters hereditary neoplastic syndrome
• p.Pro147fs Multiple submitters familial adenomatous polyposis 4
• p.Pro346_Leu347insTer Multiple submitters familial adenomatous polyposis 4
• p.Pro765fs Multiple submitters familial adenomatous polyposis 4
• p.Ser1022fs Multiple submitters hereditary neoplastic syndrome
• p.Ser116fs Multiple submitters familial adenomatous polyposis 4
• p.Ser131Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser412Ter Multiple submitters familial adenomatous polyposis 4
• p.Ser490fs Multiple submitters hereditary neoplastic syndrome
• p.Thr1054fs Multiple submitters familial adenomatous polyposis 4
• p.Thr310fs Multiple submitters hereditary neoplastic syndrome
• p.Thr436fs Multiple submitters familial adenomatous polyposis 4
• p.Thr473fs Multiple submitters hereditary neoplastic syndrome
• p.Thr959fs Multiple submitters familial adenomatous polyposis 4
• p.Trp579_Val580insTer Multiple submitters familial adenomatous polyposis 4
• p.Trp807Ter Multiple submitters familial adenomatous polyposis 4
• p.Tyr1011Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr229Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr254Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr273fs Multiple submitters familial adenomatous polyposis 4
• p.Tyr462fs Multiple submitters familial adenomatous polyposis 4
• p.Tyr465Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr744fs Multiple submitters familial adenomatous polyposis 4
• p.Tyr789Ter Multiple submitters familial adenomatous polyposis 4
• p.Tyr818Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr921Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr946Ter Multiple submitters familial adenomatous polyposis 4
• p.Val101fs Multiple submitters hereditary neoplastic syndrome
• p.Val769fs Multiple submitters familial adenomatous polyposis 4
• p.Val851fs Multiple submitters familial adenomatous polyposis 4
• p.Val858_Ile859insTer Multiple submitters familial adenomatous polyposis 4
• p.Val891fs Multiple submitters familial adenomatous polyposis 4
• c.1173+2T>G Single submitter
• c.1764-243_1896+1del Single submitter
• c.1765delG Single submitter hereditary neoplastic syndrome
• c.903_909+1del Single submitter hereditary neoplastic syndrome
• p.Ala1045fs Single submitter familial adenomatous polyposis 4
• p.Ala13fs Single submitter familial adenomatous polyposis 4
• p.Ala396fs Single submitter
• p.Ala471_Glu474delinsGlyTer Single submitter
• p.Ala504fs Single submitter familial adenomatous polyposis 4
• p.Ala52fs Single submitter hereditary neoplastic syndrome
• p.Ala742fs Single submitter hereditary neoplastic syndrome
• p.Ala805fs Single submitter
• p.Ala838fs Single submitter
• p.Ala960fs Single submitter hereditary neoplastic syndrome
• p.Ala988fs Single submitter familial adenomatous polyposis 4
• p.Arg1061fs Single submitter
• p.Arg128fs Single submitter
• p.Arg268fs Single submitter familial adenomatous polyposis 4
• p.Arg295fs Single submitter hereditary neoplastic syndrome
• p.Arg442fs Single submitter hereditary neoplastic syndrome
• p.Arg623fs Single submitter familial adenomatous polyposis 4
• p.Arg734fs Single submitter hereditary neoplastic syndrome
• p.Arg790fs Single submitter familial adenomatous polyposis 4
• p.Arg855fs Single submitter
• p.Arg86fs Single submitter
• p.Asn1020fs Single submitter
• p.Asn1071_Val1072insTer Single submitter
• p.Asn377fs Single submitter hereditary neoplastic syndrome
• p.Asn690fs Single submitter
• p.Asn861fs Single submitter hereditary neoplastic syndrome
• p.Asn944fs Single submitter familial adenomatous polyposis 4
• p.Asp112fs Single submitter hereditary neoplastic syndrome
• p.Asp168fs Single submitter
• p.Asp380fs Single submitter hereditary neoplastic syndrome
• p.Asp450fs Single submitter familial adenomatous polyposis 4
• p.Asp459fs Single submitter hereditary neoplastic syndrome
• p.Asp479fs Single submitter
• p.Asp620fs Single submitter hereditary neoplastic syndrome
• p.Asp717fs Single submitter hereditary neoplastic syndrome
• p.Asp802Ter Single submitter
• p.Asp809fs Single submitter familial adenomatous polyposis 4
• p.Cys1015fs Single submitter familial adenomatous polyposis 4
• p.Cys142fs Single submitter familial adenomatous polyposis 4
• p.Cys274fs Single submitter familial adenomatous polyposis 4
• p.Cys370fs Single submitter
• p.Cys833Ter Single submitter familial adenomatous polyposis 4
• p.Gln105fs Single submitter familial adenomatous polyposis 4
• p.Gln105Ter Single submitter hereditary neoplastic syndrome
• p.Gln152Ter Single submitter
• p.Gln21Ter Single submitter familial adenomatous polyposis 4
• p.Gln235fs Single submitter hereditary neoplastic syndrome
• p.Gln29fs Single submitter familial adenomatous polyposis 4
• p.Gln29Ter Single submitter familial adenomatous polyposis 4
• p.Gln406Ter Single submitter hereditary neoplastic syndrome
• p.Gln435Ter Single submitter familial adenomatous polyposis 4
• p.Gln549Ter Single submitter familial adenomatous polyposis 4
• p.Gln551Ter Single submitter familial adenomatous polyposis 4
• p.Gln720Ter Single submitter
• p.Gln74fs Single submitter
• p.Gln74fs Single submitter hereditary neoplastic syndrome
• p.Gln852fs Single submitter familial adenomatous polyposis 4
• p.Gln852Ter Single submitter familial adenomatous polyposis 4
• p.Gln876Ter Single submitter hereditary neoplastic syndrome
• p.Gln949fs Single submitter hereditary neoplastic syndrome
• p.Gln969fs Single submitter hereditary neoplastic syndrome
• p.Glu1038fs Single submitter hereditary neoplastic syndrome
• p.Glu238fs Single submitter
• p.Glu251fs Single submitter familial adenomatous polyposis 4
• p.Glu251Ter Single submitter familial adenomatous polyposis 4
• p.Glu261Ter Single submitter familial adenomatous polyposis 4
• p.Glu376Ter Single submitter hereditary neoplastic syndrome
• p.Glu516Ter Single submitter familial adenomatous polyposis 4
• p.Glu533Ter Single submitter
• p.Glu546Ter Single submitter hereditary neoplastic syndrome
• p.Glu599fs Single submitter familial adenomatous polyposis 4
• p.Glu622fs Single submitter familial adenomatous polyposis 4
• p.Glu683fs Single submitter
• p.Glu732Ter Single submitter hereditary neoplastic syndrome
• p.Glu816fs Single submitter
• p.Glu955Ter Single submitter hereditary neoplastic syndrome
• p.Gly1031Ter Single submitter
• p.Gly1044Ser Single submitter ⚠
• p.Gly260delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer Single submitter
• p.Gly301fs Single submitter
• p.Gly624fs Single submitter hereditary neoplastic syndrome
• p.Gly862Ter Single submitter
• p.Gly948fs Single submitter
• p.Gly978fs Single submitter familial adenomatous polyposis 4
• p.His1023fs Single submitter hereditary neoplastic syndrome
• p.His441fs Single submitter
• p.His684_Tyr685insTer Single submitter familial adenomatous polyposis 4
• p.Ile1082_Leu1083insTer Single submitter
• p.Ile318fs Single submitter hereditary neoplastic syndrome
• p.Ile492fs Single submitter familial adenomatous polyposis 4
• p.Ile500fs Single submitter
• p.Ile641fs Single submitter familial adenomatous polyposis 4
• p.Ile656fs Single submitter familial adenomatous polyposis 4
• p.Ile656Ter Single submitter hereditary neoplastic syndrome
• p.Ile912fs Single submitter familial adenomatous polyposis 4
• p.Ile962fs Single submitter hereditary neoplastic syndrome
• p.Ile998fs Single submitter
• p.Leu1041fs Single submitter
• p.Leu113fs Single submitter familial adenomatous polyposis 4
• p.Leu156fs Single submitter familial adenomatous polyposis 4
• p.Leu175fs Single submitter
• p.Leu197fs Single submitter
• p.Leu495Ter Single submitter hereditary neoplastic syndrome
• p.Leu503fs Single submitter hereditary neoplastic syndrome
• p.Leu515fs Single submitter
• p.Leu548fs Single submitter
• p.Leu587fs Single submitter hereditary neoplastic syndrome
• p.Leu625fs Single submitter familial adenomatous polyposis 4
• p.Leu673Ter Single submitter familial adenomatous polyposis 4
• p.Leu679fs Single submitter
• p.Leu702_Phe703delinsTer Single submitter familial adenomatous polyposis 4
• p.Leu702fs Single submitter
• p.Leu706fs Single submitter
• p.Leu792fs Single submitter
• p.Leu870Ter Single submitter hereditary neoplastic syndrome
• p.Lys100Ter Single submitter
• p.Lys103Ter Single submitter familial adenomatous polyposis 4
• p.Lys1074Ter Single submitter
• p.Lys107fs Single submitter
• p.Lys165_Cys166insTer Single submitter hereditary neoplastic syndrome
• p.Lys165fs Single submitter familial adenomatous polyposis 4
• p.Lys187Ter Single submitter hereditary neoplastic syndrome
• p.Lys219fs Single submitter
• p.Lys375Ter Single submitter
• p.Lys382fs Single submitter
• p.Lys484fs Single submitter
• p.Lys617fs Single submitter familial adenomatous polyposis 4
• p.Lys704Ter Single submitter familial adenomatous polyposis 4
• p.Lys714fs Single submitter familial adenomatous polyposis 4
• p.Lys716fs Single submitter
• p.Lys823Ter Single submitter
• p.Lys87fs Single submitter
• p.Lys947Ter Single submitter
• p.Lys98fs Single submitter
• p.Lys99fs Single submitter familial adenomatous polyposis 4
• p.Met115fs Single submitter hereditary neoplastic syndrome
• p.Met360fs Single submitter familial adenomatous polyposis 4
• p.Met458fs Single submitter hereditary neoplastic syndrome
• p.Met518fs Single submitter hereditary neoplastic syndrome
• p.Met892_Ile893insTer Single submitter
• p.Phe203fs Single submitter
• p.Phe291fs Single submitter familial adenomatous polyposis 4
• p.Phe387fs Single submitter hereditary neoplastic syndrome
• p.Phe638Ter Single submitter hereditary neoplastic syndrome
• p.Phe810Ter Single submitter familial adenomatous polyposis 4
• p.Phe814fs Single submitter hereditary neoplastic syndrome
• p.Phe835fs Single submitter
• p.Pro1079fs Single submitter
• p.Pro286fs Single submitter familial adenomatous polyposis 4
• p.Pro498fs Single submitter
• p.Pro49delinsArgPheTer Single submitter
• p.Pro681fs Single submitter
• p.Pro69fs Single submitter hereditary neoplastic syndrome
• p.Pro783fs Single submitter
• p.Pro923fs Single submitter familial adenomatous polyposis 4
• p.Ser149fs Single submitter
• p.Ser186Ter Single submitter familial adenomatous polyposis 4
• p.Ser218fs Single submitter
• p.Ser220Ter Single submitter
• p.Ser225fs Single submitter hereditary neoplastic syndrome
• p.Ser364fs Single submitter
• p.Ser39fs Single submitter
• p.Ser419fs Single submitter familial adenomatous polyposis 4
• p.Ser447fs Single submitter hereditary neoplastic syndrome
• p.Ser570fs Single submitter familial adenomatous polyposis 4
• p.Ser570Ter Single submitter familial adenomatous polyposis 4
• p.Ser598fs Single submitter familial adenomatous polyposis 4
• p.Ser634fs Single submitter hereditary neoplastic syndrome
• p.Ser650Ter Single submitter
• p.Ser661fs Single submitter
• p.Ser748fs Single submitter hereditary neoplastic syndrome
• p.Ser748Ter Single submitter familial adenomatous polyposis 4
• p.Ser762fs Single submitter familial adenomatous polyposis 4
• p.Ser782fs Single submitter hereditary neoplastic syndrome
• p.Ser815fs Single submitter
• p.Thr31fs Single submitter familial adenomatous polyposis 4
• p.Thr397fs Single submitter familial adenomatous polyposis 4
• p.Thr416fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 97

• c.1564_1568+18del Multiple submitters familial adenomatous polyposis 4
• c.1764-1G>A Multiple submitters familial adenomatous polyposis 4
• c.1764-2A>C Multiple submitters hereditary neoplastic syndrome
• c.1764-2A>G Multiple submitters familial adenomatous polyposis 4
• c.1896+1G>A Multiple submitters hereditary neoplastic syndrome
• c.1896+2T>C Multiple submitters familial adenomatous polyposis 4
• c.2253+3_2253+7del Multiple submitters endometrial carcinoma
• c.2319-1G>A Multiple submitters familial adenomatous polyposis 4
• c.2319-1G>C Multiple submitters familial adenomatous polyposis 4
• c.2319-2A>G Multiple submitters familial adenomatous polyposis 4
• c.237+2T>C Multiple submitters hereditary neoplastic syndrome
• c.3001-1G>A Multiple submitters familial adenomatous polyposis 4
• c.3001-2A>G Multiple submitters familial adenomatous polyposis 4
• p.Ala44fs Multiple submitters endometrial carcinoma
• p.Arg268Ter Multiple submitters familial adenomatous polyposis 4
• p.Arg26Ter Multiple submitters familial adenomatous polyposis 4
• p.Arg454Ter Multiple submitters familial adenomatous polyposis 4
• p.Arg715fs Multiple submitters familial adenomatous polyposis 4
• p.Arg727Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg734Ter Multiple submitters familial adenomatous polyposis 4
• p.Arg85Ter Multiple submitters familial adenomatous polyposis 4
• p.Asn385fs Multiple submitters endometrial carcinoma
• p.Asn550fs Multiple submitters hereditary neoplastic syndrome
• p.Asp767fs Multiple submitters familial adenomatous polyposis 4
• p.Asp958fs Multiple submitters endometrial carcinoma
• p.Gln1058Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln106Ter Multiple submitters endometrial carcinoma
• p.Gln157Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln189Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln192Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln214Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln235Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln242Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln422Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln46Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln487Ter Multiple submitters
• p.Gln610Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln731Ter Multiple submitters familial adenomatous polyposis 4
• p.Gln743fs Multiple submitters familial adenomatous polyposis 4
• p.Gln74Ter Multiple submitters endometrial carcinoma
• p.Gln874Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu108Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu264Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu373fs Multiple submitters hereditary neoplastic syndrome
• p.Glu437fs Multiple submitters endometrial carcinoma
• p.Glu437Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu464Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu474fs Multiple submitters endometrial carcinoma
• p.Glu512fs Multiple submitters familial adenomatous polyposis 4
• p.Glu512Ter Multiple submitters endometrial carcinoma
• p.Glu546fs Multiple submitters familial adenomatous polyposis 4
• p.Glu797Ter Multiple submitters familial adenomatous polyposis 4
• p.Glu889_Arg890insTer Multiple submitters familial adenomatous polyposis 4
• p.Gly32_Ser33insTer Multiple submitters familial adenomatous polyposis 4
• p.Gly896Ter Multiple submitters familial adenomatous polyposis 4
• p.His647fs Multiple submitters familial adenomatous polyposis 4
• p.Ile537fs Multiple submitters endometrial carcinoma
• p.Ile935fs Multiple submitters hereditary neoplastic syndrome
• p.Leu213Ter Multiple submitters familial adenomatous polyposis 4
• p.Leu347fs Multiple submitters hereditary neoplastic syndrome
• p.Leu542fs Multiple submitters endometrial carcinoma
• p.Leu584fs Multiple submitters hereditary neoplastic syndrome
• p.Leu625_Cys626insTer Multiple submitters hereditary neoplastic syndrome
• p.Leu686fs Multiple submitters endometrial carcinoma
• p.Lys100fs Multiple submitters endometrial carcinoma
• p.Lys103fs Multiple submitters endometrial carcinoma
• p.Lys136fs Multiple submitters endometrial carcinoma
• p.Lys223fs Multiple submitters endometrial carcinoma
• p.Lys255Ter Multiple submitters familial adenomatous polyposis 4
• p.Lys382Ter Multiple submitters familial adenomatous polyposis 4
• p.Lys508fs Multiple submitters familial adenomatous polyposis 4
• p.Lys632fs Multiple submitters hereditary neoplastic syndrome
• p.Lys738Ter Multiple submitters familial adenomatous polyposis 4
• p.Lys88fs Multiple submitters familial adenomatous polyposis 4
• p.Lys98Ter Multiple submitters familial adenomatous polyposis 4
• p.Met899fs Multiple submitters hereditary neoplastic syndrome
• p.Pro49fs Multiple submitters endometrial carcinoma
• p.Pro72fs Multiple submitters hereditary neoplastic syndrome
• p.Ser16Ter Multiple submitters familial adenomatous polyposis 4
• p.Ser419Ter Multiple submitters endometrial carcinoma
• p.Ser502fs Multiple submitters hereditary neoplastic syndrome
• p.Ser529Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser603Ter Multiple submitters endometrial carcinoma
• p.Ser759fs Multiple submitters familial adenomatous polyposis 4
• p.Ser888Ter Multiple submitters familial adenomatous polyposis 4
• p.Thr196fs Multiple submitters familial adenomatous polyposis 4
• p.Thr282fs Multiple submitters endometrial carcinoma
• p.Thr363fs Multiple submitters endometrial carcinoma
• p.Thr81fs Multiple submitters familial adenomatous polyposis 4
• p.Trp562Ter Multiple submitters familial adenomatous polyposis 4
• p.Trp579Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr476Ter Multiple submitters familial adenomatous polyposis 4
• p.Tyr921fs Multiple submitters familial adenomatous polyposis 4
• p.Tyr946fs Multiple submitters familial adenomatous polyposis 4
• p.Val130_Ser131insTer Multiple submitters familial adenomatous polyposis 4
• p.Val292fs Multiple submitters hereditary neoplastic syndrome
• p.Val354fs Multiple submitters MSH3-related disorder

Likely pathogenic 105

• c.1341-2A>C Multiple submitters hereditary neoplastic syndrome
• c.1341-2A>G Multiple submitters endometrial carcinoma
• c.1341-3_1341-2del Multiple submitters
• c.1568+1G>A Multiple submitters familial adenomatous polyposis 4
• c.1568+1G>C Multiple submitters hereditary neoplastic syndrome
• c.1653+1G>A Multiple submitters familial adenomatous polyposis 4
• c.1653+2T>A Multiple submitters endometrial carcinoma
• c.1897-1G>A Multiple submitters endometrial carcinoma
• c.2084+1G>A Multiple submitters familial adenomatous polyposis 4
• c.2085-2A>G Multiple submitters endometrial carcinoma
• c.2253+2T>A Multiple submitters familial adenomatous polyposis 4
• c.2253+2T>G Multiple submitters familial adenomatous polyposis 4
• c.2254-1G>C Multiple submitters hereditary neoplastic syndrome
• c.2254-2A>G Multiple submitters endometrial carcinoma
• c.2318+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2318+1G>C Multiple submitters hereditary neoplastic syndrome
• c.237+1G>A Multiple submitters hereditary neoplastic syndrome
• c.238-1G>A Multiple submitters familial adenomatous polyposis 4
• c.238-2A>G Multiple submitters familial adenomatous polyposis 4
• c.2435+1G>C Multiple submitters familial adenomatous polyposis 4
• c.2435+2T>C Multiple submitters hereditary neoplastic syndrome
• c.2654_2655+13delinsTATTTGG Multiple submitters familial adenomatous polyposis 4
• c.2655+1G>A Multiple submitters endometrial carcinoma
• c.2813+1G>A Multiple submitters hereditary neoplastic syndrome
• c.2988_3000+893del Multiple submitters hereditary neoplastic syndrome
• c.3000+1G>A Multiple submitters familial adenomatous polyposis 4
• c.3130+1G>A Multiple submitters familial adenomatous polyposis 4
• c.358+1G>A Multiple submitters hereditary neoplastic syndrome
• c.358+1G>T Multiple submitters familial adenomatous polyposis 4
• c.358+2T>G Multiple submitters hereditary neoplastic syndrome
• c.359-1G>C Multiple submitters familial adenomatous polyposis 4
• c.359-2A>G Multiple submitters familial adenomatous polyposis 4
• c.579+1G>A Multiple submitters familial adenomatous polyposis 4
• p.Ala54fs Multiple submitters endometrial carcinoma
• p.Ser773Cys Multiple submitters hereditary neoplastic syndrome ⚠
• c.1173+1_1173+5del Single submitter familial adenomatous polyposis 4
• c.1174-1G>A Single submitter endometrial carcinoma
• c.1340+1G>A Single submitter
• c.1340+1G>C Single submitter
• c.1341-1G>A Single submitter hereditary neoplastic syndrome
• c.1341-7_1342delinsTCATTC Single submitter hereditary neoplastic syndrome
• c.1568+2T>C Single submitter
• c.1569-2A>G Single submitter familial adenomatous polyposis 4
• c.1653+2_1653+3delinsGT Single submitter familial adenomatous polyposis 4
• c.1654-1G>C Single submitter hereditary neoplastic syndrome
• c.1654-2_1654delinsTAAG Single submitter hereditary neoplastic syndrome
• c.1763+1G>A Single submitter
• c.1763+1G>C Single submitter familial adenomatous polyposis 4
• c.1763+2T>A Single submitter
• c.1764-14C>G Single submitter hereditary neoplastic syndrome
• c.1896+1del Single submitter familial adenomatous polyposis 4
• c.1896+2T>A Single submitter endometrial carcinoma
• c.2084+1G>C Single submitter hereditary neoplastic syndrome
• c.2084+1G>T Single submitter familial adenomatous polyposis 4
• c.2085-20T>A Single submitter
• c.2253_2253+1insAT Single submitter familial adenomatous polyposis 4
• c.2254-1G>A Single submitter hereditary neoplastic syndrome
• c.237_237+1dup Single submitter
• c.237+1dup Single submitter
• c.2435+1G>A Single submitter familial adenomatous polyposis 4
• c.2435+2T>G Single submitter
• c.2436-2A>G Single submitter
• c.2544-2A>T Single submitter
• c.2544-9_2560del Single submitter hereditary neoplastic syndrome
• c.2647_2655+13delinsTATTTATTATTTGG Single submitter hereditary neoplastic syndrome
• c.2655+1_2655+8del Single submitter
• c.2655+1G>T Single submitter familial adenomatous polyposis 4
• c.2813_2813+1delinsCT Single submitter
• c.2814-1G>C Single submitter familial adenomatous polyposis 4
• c.2814-95_2871del Single submitter hereditary neoplastic syndrome
• c.2988_3000+893delinsG Single submitter
• c.2994_3000+2del Single submitter familial adenomatous polyposis 4
• c.3000+1G>T Single submitter
• c.3131-1G>A Single submitter
• c.3131-2A>G Single submitter hereditary neoplastic syndrome
• c.3302+1G>A Single submitter familial adenomatous polyposis 4
• c.358+1del Single submitter hereditary neoplastic syndrome
• c.358+1G>C Single submitter
• c.359-1G>A Single submitter hereditary neoplastic syndrome
• c.359-1G>T Single submitter familial adenomatous polyposis 4
• c.579+1G>C Single submitter
• c.579+1G>T Single submitter familial adenomatous polyposis 4
• c.580-1G>C Single submitter
• c.580-294_649del Single submitter
• c.793-1G>A Single submitter
• c.909+1G>A Single submitter
• c.(-54_? Single submitter familial adenomatous polyposis 4
• p.Ala57fs Single submitter endometrial carcinoma
• p.Ala68fs Single submitter endometrial carcinoma
• p.Arg20fs Single submitter hereditary neoplastic syndrome
• p.Asn93fs Single submitter familial adenomatous polyposis 4
• p.Asp170Ter Single submitter
• p.Gln157fs Single submitter endometrial carcinoma
• p.Glu413Ter Single submitter endometrial carcinoma
• p.His1010fs Single submitter
• p.Ile79fs Single submitter familial adenomatous polyposis 4
• p.Ile83fs Single submitter endometrial carcinoma
• p.Lys1084Ter Single submitter endometrial carcinoma
• p.Lys132fs Single submitter
• p.Lys5fs Single submitter endometrial carcinoma
• p.Phe784fs Single submitter hereditary neoplastic syndrome
• p.Ser8Ter Single submitter hereditary neoplastic syndrome
• p.Tyr818fs Single submitter endometrial carcinoma
• p.Val1008fs Single submitter endometrial carcinoma
• p.Val831fs Single submitter endometrial carcinoma

Conflicting classifications of pathogenicity 218

• c.1028-11ATT[2] Single submitter familial adenomatous polyposis 4
• c.1028-5A>T Single submitter hereditary neoplastic syndrome
• c.1173+1G>A Single submitter hereditary neoplastic syndrome
• c.1340+6T>C Single submitter hereditary neoplastic syndrome
• c.1341-1G>T Single submitter familial adenomatous polyposis 4
• c.1453+1G>A Single submitter hereditary neoplastic syndrome
• c.1453+5A>C Single submitter endometrial carcinoma
• c.1454-11C>T Single submitter hereditary neoplastic syndrome
• c.1454-1G>C Single submitter hereditary neoplastic syndrome
• c.1454-2A>G Single submitter hereditary neoplastic syndrome
• c.1454-5T>G Single submitter hereditary neoplastic syndrome
• c.1568+3A>G Single submitter hereditary neoplastic syndrome
• c.1569-4A>G Single submitter hereditary neoplastic syndrome
• c.1569-5T>C Single submitter hereditary neoplastic syndrome
• c.1653+3C>G Single submitter hereditary neoplastic syndrome
• c.1653+3C>T Single submitter hereditary neoplastic syndrome
• c.1653+4A>G Single submitter familial adenomatous polyposis 4
• c.1654-12G>A Single submitter endometrial carcinoma
• c.1654-5C>T Single submitter hereditary neoplastic syndrome
• c.1763+2T>C Single submitter familial adenomatous polyposis 4
• c.1764-13_1764-3del Single submitter hereditary neoplastic syndrome
• c.1764-13T>C Single submitter
• c.1897-12T>A Single submitter hereditary neoplastic syndrome
• c.1897-6T>C Single submitter hereditary neoplastic syndrome
• c.2085-3dup Single submitter hereditary neoplastic syndrome
• c.2085-3T>C Single submitter hereditary neoplastic syndrome
• c.2253+9A>C Single submitter
• c.2254-13G>T Single submitter hereditary neoplastic syndrome
• c.2254-19T>G Single submitter
• c.2254-3T>C Single submitter hereditary neoplastic syndrome
• c.2318+2T>C Single submitter familial adenomatous polyposis 4
• c.2318+5del Single submitter endometrial carcinoma
• c.2318+5G>A Single submitter hereditary neoplastic syndrome
• c.2319-11C>T Single submitter familial adenomatous polyposis 4
• c.237+3A>C Single submitter hereditary neoplastic syndrome
• c.237+4G>A Single submitter hereditary neoplastic syndrome
• c.237+7T>G Single submitter MSH3-related disorder
• c.238-3T>C Single submitter hereditary neoplastic syndrome
• c.238-5T>C Single submitter hereditary neoplastic syndrome
• c.2435+5G>A Single submitter hereditary neoplastic syndrome
• c.2436-1G>A Single submitter MSH3-related disorder
• c.2436-3T>C Single submitter hereditary neoplastic syndrome
• c.2436-5C>G Single submitter hereditary neoplastic syndrome
• c.2543+1G>A Single submitter familial adenomatous polyposis 4
• c.2543+2T>C Single submitter familial adenomatous polyposis 4
• c.2543+4del Single submitter hereditary neoplastic syndrome
• c.2544-10T>C Single submitter familial adenomatous polyposis 4
• c.2813+3A>G Single submitter hereditary neoplastic syndrome
• c.2814-5del Single submitter hereditary neoplastic syndrome
• c.3000+4A>G Single submitter hereditary neoplastic syndrome
• c.3001-3T>C Single submitter hereditary neoplastic syndrome
• c.3130+3A>G Single submitter hereditary neoplastic syndrome
• c.3130+4T>G Single submitter hereditary neoplastic syndrome
• c.3131-5C>T Single submitter hereditary neoplastic syndrome
• c.3302+2T>A Single submitter hereditary neoplastic syndrome
• c.3302+4A>C Single submitter hereditary neoplastic syndrome
• c.3303-3C>T Single submitter hereditary neoplastic syndrome
• c.359-17C>G Single submitter
• c.579+3A>T Single submitter hereditary neoplastic syndrome
• c.579+4T>C Single submitter hereditary neoplastic syndrome
• c.580-11T>C Single submitter hereditary neoplastic syndrome
• c.580-2A>G Single submitter hereditary neoplastic syndrome
• c.580-5G>T Single submitter hereditary neoplastic syndrome
• c.792+1G>A Single submitter familial adenomatous polyposis 4
• c.792+2T>C Single submitter hereditary neoplastic syndrome
• c.792+3A>G Single submitter hereditary neoplastic syndrome
• c.909+1dup Single submitter familial adenomatous polyposis 4
• c.909+3C>T Single submitter hereditary neoplastic syndrome
• p.Ala1046Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1086fs Single submitter familial adenomatous polyposis 4
• p.Ala12Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala12Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala17Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala17Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala438Val Single submitter familial adenomatous polyposis 4 ⚠
• p.Ala43Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala443Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala471Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala55_Ala56insGlyAlaAla Single submitter endometrial carcinoma
• p.Ala57_Ala62del Single submitter endometrial carcinoma
• p.Ala57Pro Single submitter ⚠
• p.Arg1061Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1101= Single submitter hereditary neoplastic syndrome
• p.Arg188Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg188His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg188Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Arg322= Single submitter hereditary neoplastic syndrome
• p.Arg379Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg454Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg588= Single submitter hereditary neoplastic syndrome
• p.Arg669Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg669Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Arg727Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg790= Single submitter hereditary neoplastic syndrome
• p.Arg796= Single submitter hereditary neoplastic syndrome
• p.Arg848= Single submitter hereditary neoplastic syndrome
• p.Asn1098fs Single submitter hereditary neoplastic syndrome
• p.Asn207Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn385Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Asn494Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn524Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Asp1000Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp112Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp143Asn Single submitter endometrial carcinoma ⚠
• p.Asp194Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp351Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp45Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp48= Single submitter hereditary neoplastic syndrome
• p.Asp705= Single submitter hereditary neoplastic syndrome
• p.Asp883Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp883Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Cys803= Single submitter hereditary neoplastic syndrome
• p.Gln1024His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln1058= Single submitter hereditary neoplastic syndrome
• p.Gln106Glu Single submitter familial adenomatous polyposis 4 ⚠
• p.Gln1117Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln157Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln29Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln449Arg Single submitter endometrial carcinoma ⚠
• p.Gln743= Single submitter hereditary neoplastic syndrome
• p.Gln74Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Gln917Ter Single submitter familial adenomatous polyposis 4
• p.Gln949Ter Single submitter hereditary neoplastic syndrome
• p.Glu474Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu523= Single submitter hereditary neoplastic syndrome
• p.Glu637= Single submitter hereditary neoplastic syndrome
• p.Glu725Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu886= Single submitter hereditary neoplastic syndrome
• p.Glu926Ter Single submitter familial adenomatous polyposis 4
• p.Glu995= Single submitter hereditary neoplastic syndrome
• p.Gly1095Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly109Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly301= Single submitter hereditary neoplastic syndrome
• p.Gly389= Single submitter hereditary neoplastic syndrome
• p.Gly50Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly721= Single submitter familial adenomatous polyposis 4
• p.Gly986_Phe997delinsValSerAlaHisGlnIleLeuThrSerAspThrTyr Single submitter hereditary neoplastic syndrome
• p.His1114Arg Single submitter familial adenomatous polyposis 4 ⚠
• p.His210Arg Single submitter hereditary neoplastic syndrome ⚠
• p.His243Gln Single submitter hereditary neoplastic syndrome ⚠
• p.His819= Single submitter hereditary neoplastic syndrome
• p.His827Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ile190Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile237Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ile237Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile348Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile371= Single submitter hereditary neoplastic syndrome
• p.Ile461Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile656Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ile663Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile723Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile754Met Single submitter familial adenomatous polyposis 4 ⚠
• p.Ile756Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile914Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile929Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu146Phe Single submitter hereditary neoplastic syndrome ⚠
• p.Leu146Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Leu200Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu325Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu911Trp Single submitter hereditary neoplastic syndrome ⚠
• p.Lys100= Single submitter hereditary neoplastic syndrome
• p.Lys303Asn Single submitter familial adenomatous polyposis 4 ⚠
• p.Lys478Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys508Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys508Glu Single submitter endometrial carcinoma ⚠
• p.Lys632= Single submitter hereditary neoplastic syndrome
• p.Lys695= Single submitter hereditary neoplastic syndrome
• p.Lys813Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys823= Single submitter hereditary neoplastic syndrome
• p.Met1113Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met1113Thr Single submitter endometrial carcinoma ⚠
• p.Met115Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met115Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met518Val Single submitter hereditary neoplastic syndrome ⚠
• p.Phe387Tyr Single submitter endometrial carcinoma ⚠
• p.Phe709Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro147Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro64Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro681Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Pro69Ser Single submitter endometrial carcinoma ⚠
• p.Ser149Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser15Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser15Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser173Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser186Leu Single submitter endometrial carcinoma ⚠
• p.Ser201Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser218Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ser225Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ser33Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser366Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser419Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ser420Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser490Tyr Single submitter familial adenomatous polyposis 4 ⚠
• p.Ser661= Single submitter hereditary neoplastic syndrome
• p.Thr1099Met Single submitter endometrial carcinoma ⚠
• p.Thr1112Met Single submitter hereditary neoplastic syndrome ⚠
• p.Thr195= Single submitter hereditary neoplastic syndrome
• p.Thr31Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr338= Single submitter hereditary neoplastic syndrome
• p.Thr363= Single submitter hereditary neoplastic syndrome
• p.Thr37Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Thr444= Single submitter hereditary neoplastic syndrome
• p.Thr766Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr81Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr254Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Val1001= Single submitter hereditary neoplastic syndrome
• p.Val1001Leu Single submitter hereditary neoplastic syndrome
• p.Val1034= Single submitter hereditary neoplastic syndrome
• p.Val104Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val247Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val304= Single submitter hereditary neoplastic syndrome
• p.Val378Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val393Met Single submitter hereditary neoplastic syndrome ⚠
• p.Val47Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val47Met Single submitter hereditary neoplastic syndrome ⚠
• p.Val607= Single submitter hereditary neoplastic syndrome
• p.Val671Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val696Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 85

• c.1897-8A>G Multiple submitters familial adenomatous polyposis 4
• c.238-76G>A Multiple submitters
• c.3001-22T>A Multiple submitters hereditary neoplastic syndrome
• c.3001-33_3001-30del Multiple submitters hereditary neoplastic syndrome
• c.358+40T>C Multiple submitters hereditary neoplastic syndrome
• c.359-7G>A Multiple submitters hereditary neoplastic syndrome
• c.792+50G>A Multiple submitters hereditary neoplastic syndrome
• c.-35A>G Multiple submitters hereditary neoplastic syndrome
• c.-50C>T Multiple submitters hereditary neoplastic syndrome
• c.1174-100T>C Single submitter
• c.1174-176G>A Single submitter
• c.1340+71T>C Single submitter
• c.1341-104A>C Single submitter
• c.1341-220del Single submitter
• c.1341-221_1341-220del Single submitter
• c.1341-79C>T Single submitter
• c.1341-8del Single submitter
• c.1453+11del Single submitter
• c.1453+11dup Single submitter
• c.1453+217C>A Single submitter
• c.1453+61A>C Single submitter
• c.1454-236T>C Single submitter
• c.1569-5dup Single submitter
• c.1653+275del Single submitter
• c.1654-146T>G Single submitter
• c.1654-943_1654-635del Single submitter hereditary neoplastic syndrome
• c.1763+240T>G Single submitter
• c.1763+260T>C Single submitter
• c.1763+98A>G Single submitter
• c.1764-8dup Single submitter
• c.1896+1148TTATGTTATT[3] Single submitter hereditary neoplastic syndrome
• c.1897-204C>G Single submitter
• c.2253+141_2253+143del Single submitter
• c.2318+145dup Single submitter
• c.2318+23dup Single submitter
• c.237+18C>T Single submitter
• c.237+249A>G Single submitter
• c.237+76G>T Single submitter
• c.238-196A>G Single submitter
• c.238-65C>G Single submitter
• c.2543+140G>A Single submitter
• c.2544-88_2544-87del Single submitter
• c.2655+22dup Single submitter
• c.2655+238A>G Single submitter
• c.2656-145T>C Single submitter
• c.2814-247C>T Single submitter
• c.2814-251G>A Single submitter
• c.3001-239A>G Single submitter
• c.3130+214C>G Single submitter
• c.3131-262A>T Single submitter
• c.3302+44_3302+46del Single submitter
• c.3302+64G>A Single submitter
• c.3302+70C>T Single submitter
• c.3303-7dup Single submitter
• c.358+191C>G Single submitter
• c.358+76G>A Single submitter
• c.358+76G>C Single submitter
• c.359-113A>G Single submitter
• c.359-136T>A Single submitter
• c.579+106G>C Single submitter
• c.579+107G>A Single submitter
• c.579+130C>A Single submitter
• c.579+153C>T Single submitter
• c.579+180G>A Single submitter
• c.579+250G>T Single submitter
• c.579+288T>C Single submitter
• c.579+59G>A Single submitter
• c.580-141G>T Single submitter
• c.580-181T>C Single submitter
• c.792+270A>T Single submitter
• c.792+69G>A Single submitter
• c.793-109G>C Single submitter
• c.793-11del Single submitter
• c.793-3del Single submitter
• c.793-3dup Single submitter
• c.909+151G>A Single submitter
• c.909+79T>A Single submitter
• c.909+92A>G Single submitter
• c.-30_-18dup Single submitter familial adenomatous polyposis 4
• c.-34_-10dup Single submitter familial adenomatous polyposis 4
• c.-39C>T Single submitter
• p.Ala58Pro Single submitter
• p.Ala60fs Single submitter
• p.Ala61fs Single submitter
• p.Ile79Val Single submitter hereditary neoplastic syndrome

Benign/Likely benign 15

• c.1174-12A>G Multiple submitters familial adenomatous polyposis 4
• c.1453+15T>C Multiple submitters familial adenomatous polyposis 4
• c.1454-5del Multiple submitters endometrial carcinoma
• c.1764-9_1764-8del Multiple submitters endometrial carcinoma
• c.1896+18C>T Multiple submitters
• c.2318+11A>G Multiple submitters familial adenomatous polyposis 4
• c.792+8G>A Multiple submitters familial adenomatous polyposis 4
• p.Ala57= Multiple submitters hereditary neoplastic syndrome
• p.Ala65Pro Multiple submitters hereditary neoplastic syndrome
• p.Gln664= Multiple submitters hereditary neoplastic syndrome
• p.Glu523Lys Multiple submitters familial adenomatous polyposis 4
• p.Ser119Phe Multiple submitters hereditary neoplastic syndrome
• p.Ser598= Multiple submitters familial adenomatous polyposis 4
• p.Thr1009= Multiple submitters hereditary neoplastic syndrome
• p.Tyr629= Multiple submitters hereditary neoplastic syndrome

Likely benign 1335

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

• c.1028-16C>A Multiple submitters
• c.1028-6T>C Multiple submitters familial adenomatous polyposis 4
• c.1174-15del Multiple submitters
• c.1174-4T>C Multiple submitters hereditary neoplastic syndrome
• c.1340+12C>T Multiple submitters
• c.1453+10T>C Multiple submitters endometrial carcinoma
• c.1454-20_1454-17del Multiple submitters
• c.1454-4C>G Multiple submitters hereditary neoplastic syndrome
• c.1454-62A>G Multiple submitters
• c.1654-4T>C Multiple submitters hereditary neoplastic syndrome
• c.1897-15del Multiple submitters
• c.1897-17A>C Multiple submitters
• c.2084+11G>A Multiple submitters familial adenomatous polyposis 4
• c.2084+13C>T Multiple submitters
• c.2084+9C>T Multiple submitters familial adenomatous polyposis 4
• c.2253+20T>C Multiple submitters
• c.2254-4T>G Multiple submitters hereditary neoplastic syndrome
• c.237+12C>G Multiple submitters familial adenomatous polyposis 4
• c.237+9T>C Multiple submitters familial adenomatous polyposis 4
• c.238-4A>G Multiple submitters hereditary neoplastic syndrome
• c.2436-13G>T Multiple submitters familial adenomatous polyposis 4
• c.2436-4G>A Multiple submitters hereditary neoplastic syndrome
• c.2436-4G>T Multiple submitters hereditary neoplastic syndrome
• c.2436-5C>T Multiple submitters hereditary neoplastic syndrome
• c.2813+8C>A Multiple submitters
• c.2813+9G>A Multiple submitters
• c.3000+10C>T Multiple submitters
• c.3000+9C>T Multiple submitters
• c.3001-9T>C Multiple submitters
• c.3130+17C>T Multiple submitters
• c.3131-17C>T Multiple submitters
• c.3131-4A>C Multiple submitters hereditary neoplastic syndrome
• c.3302+15G>C Multiple submitters
• c.3302+7G>T Multiple submitters
• c.3303-16T>C Multiple submitters
• c.3303-16T>G Multiple submitters
• c.3303-4C>A Multiple submitters hereditary neoplastic syndrome
• c.3303-4C>G Multiple submitters hereditary neoplastic syndrome
• c.3303-4C>T Multiple submitters hereditary neoplastic syndrome
• c.358+12G>A Multiple submitters
• c.358+12G>T Multiple submitters
• c.358+7T>A Multiple submitters
• c.359-4T>C Multiple submitters hereditary neoplastic syndrome
• c.580-4C>G Multiple submitters hereditary neoplastic syndrome
• c.792+7C>T Multiple submitters familial adenomatous polyposis 4
• c.793-4T>A Multiple submitters hereditary neoplastic syndrome
• c.909+7T>G Multiple submitters
• p.Ala1045= Multiple submitters hereditary neoplastic syndrome
• p.Ala1046= Multiple submitters hereditary neoplastic syndrome
• p.Ala1073= Multiple submitters hereditary neoplastic syndrome
• p.Ala1076= Multiple submitters hereditary neoplastic syndrome
• p.Ala1108= Multiple submitters hereditary neoplastic syndrome
• p.Ala1116= Multiple submitters hereditary neoplastic syndrome
• p.Ala12= Multiple submitters hereditary neoplastic syndrome
• p.Ala12= Multiple submitters hereditary neoplastic syndrome
• p.Ala180= Multiple submitters hereditary neoplastic syndrome
• p.Ala19= Multiple submitters hereditary neoplastic syndrome
• p.Ala22= Multiple submitters hereditary neoplastic syndrome
• p.Ala283= Multiple submitters hereditary neoplastic syndrome
• p.Ala396= Multiple submitters hereditary neoplastic syndrome
• p.Ala431= Multiple submitters hereditary neoplastic syndrome
• p.Ala438= Multiple submitters hereditary neoplastic syndrome
• p.Ala44= Multiple submitters hereditary neoplastic syndrome
• p.Ala443= Multiple submitters hereditary neoplastic syndrome
• p.Ala471= Multiple submitters hereditary neoplastic syndrome
• p.Ala504= Multiple submitters hereditary neoplastic syndrome
• p.Ala52= Multiple submitters hereditary neoplastic syndrome
• p.Ala53= Multiple submitters hereditary neoplastic syndrome
• p.Ala53= Multiple submitters hereditary neoplastic syndrome
• p.Ala55= Multiple submitters hereditary neoplastic syndrome
• p.Ala56= Multiple submitters hereditary neoplastic syndrome
• p.Ala59= Multiple submitters hereditary neoplastic syndrome
• p.Ala592= Multiple submitters hereditary neoplastic syndrome
• p.Ala596= Multiple submitters hereditary neoplastic syndrome
• p.Ala60= Multiple submitters hereditary neoplastic syndrome
• p.Ala62= Multiple submitters hereditary neoplastic syndrome
• p.Ala65= Multiple submitters hereditary neoplastic syndrome
• p.Ala65= Multiple submitters hereditary neoplastic syndrome
• p.Ala654= Multiple submitters hereditary neoplastic syndrome
• p.Ala658= Multiple submitters hereditary neoplastic syndrome
• p.Ala70= Multiple submitters hereditary neoplastic syndrome
• p.Ala742= Multiple submitters hereditary neoplastic syndrome
• p.Ala760= Multiple submitters hereditary neoplastic syndrome
• p.Ala824= Multiple submitters hereditary neoplastic syndrome
• p.Ala838= Multiple submitters hereditary neoplastic syndrome
• p.Ala841= Multiple submitters hereditary neoplastic syndrome
• p.Ala910= Multiple submitters hereditary neoplastic syndrome
• p.Ala916= Multiple submitters hereditary neoplastic syndrome
• p.Ala927= Multiple submitters hereditary neoplastic syndrome
• p.Ala941= Multiple submitters hereditary neoplastic syndrome
• p.Ala960= Multiple submitters hereditary neoplastic syndrome
• p.Ala966= Multiple submitters hereditary neoplastic syndrome
• p.Ala990= Multiple submitters hereditary neoplastic syndrome
• p.Ala992= Multiple submitters hereditary neoplastic syndrome
• p.Arg1066= Multiple submitters hereditary neoplastic syndrome
• p.Arg1103= Multiple submitters hereditary neoplastic syndrome
• p.Arg126= Multiple submitters hereditary neoplastic syndrome
• p.Arg128= Multiple submitters hereditary neoplastic syndrome
• p.Arg20= Multiple submitters hereditary neoplastic syndrome
• p.Arg224= Multiple submitters hereditary neoplastic syndrome
• p.Arg268= Multiple submitters hereditary neoplastic syndrome
• p.Arg3= Multiple submitters hereditary neoplastic syndrome
• p.Arg411= Multiple submitters hereditary neoplastic syndrome
• p.Arg417= Multiple submitters hereditary neoplastic syndrome
• p.Arg452= Multiple submitters hereditary neoplastic syndrome
• p.Arg457= Multiple submitters hereditary neoplastic syndrome
• p.Arg573= Multiple submitters hereditary neoplastic syndrome
• p.Arg616= Multiple submitters hereditary neoplastic syndrome
• p.Arg623= Multiple submitters hereditary neoplastic syndrome
• p.Arg734= Multiple submitters hereditary neoplastic syndrome
• p.Arg863= Multiple submitters hereditary neoplastic syndrome
• p.Arg89= Multiple submitters hereditary neoplastic syndrome
• p.Arg938= Multiple submitters hereditary neoplastic syndrome
• p.Arg964= Multiple submitters hereditary neoplastic syndrome
• p.Asn1115= Multiple submitters hereditary neoplastic syndrome
• p.Asn1127= Multiple submitters hereditary neoplastic syndrome
• p.Asn129= Multiple submitters hereditary neoplastic syndrome
• p.Asn207= Multiple submitters hereditary neoplastic syndrome
• p.Asn279= Multiple submitters hereditary neoplastic syndrome
• p.Asn355= Multiple submitters hereditary neoplastic syndrome
• p.Asn524= Multiple submitters hereditary neoplastic syndrome
• p.Asn538= Multiple submitters hereditary neoplastic syndrome
• p.Asn544= Multiple submitters hereditary neoplastic syndrome
• p.Asn739= Multiple submitters hereditary neoplastic syndrome
• p.Asn758= Multiple submitters hereditary neoplastic syndrome
• p.Asn861= Multiple submitters hereditary neoplastic syndrome
• p.Asn93= Multiple submitters hereditary neoplastic syndrome
• p.Asn944= Multiple submitters hereditary neoplastic syndrome
• p.Asp1042= Multiple submitters hereditary neoplastic syndrome
• p.Asp1077= Multiple submitters hereditary neoplastic syndrome
• p.Asp1118= Multiple submitters hereditary neoplastic syndrome
• p.Asp171= Multiple submitters
• p.Asp185= Multiple submitters hereditary neoplastic syndrome
• p.Asp245= Multiple submitters hereditary neoplastic syndrome
• p.Asp262= Multiple submitters hereditary neoplastic syndrome
• p.Asp362= Multiple submitters hereditary neoplastic syndrome
• p.Asp407= Multiple submitters hereditary neoplastic syndrome
• p.Asp45= Multiple submitters hereditary neoplastic syndrome
• p.Asp450= Multiple submitters hereditary neoplastic syndrome
• p.Asp459= Multiple submitters hereditary neoplastic syndrome
• p.Asp553= Multiple submitters hereditary neoplastic syndrome
• p.Asp620= Multiple submitters hereditary neoplastic syndrome
• p.Asp717= Multiple submitters hereditary neoplastic syndrome
• p.Asp724= Multiple submitters hereditary neoplastic syndrome
• p.Asp767= Multiple submitters hereditary neoplastic syndrome
• p.Asp802= Multiple submitters hereditary neoplastic syndrome
• p.Asp868= Multiple submitters hereditary neoplastic syndrome
• p.Asp975= Multiple submitters hereditary neoplastic syndrome
• p.Cys141= Multiple submitters hereditary neoplastic syndrome
• p.Cys142= Multiple submitters hereditary neoplastic syndrome
• p.Cys274= Multiple submitters hereditary neoplastic syndrome
• p.Cys501= Multiple submitters hereditary neoplastic syndrome
• p.Cys633= Multiple submitters hereditary neoplastic syndrome
• p.Gln1024= Multiple submitters hereditary neoplastic syndrome
• p.Gln105= Multiple submitters hereditary neoplastic syndrome
• p.Gln106= Multiple submitters hereditary neoplastic syndrome
• p.Gln148= Multiple submitters hereditary neoplastic syndrome
• p.Gln157= Multiple submitters hereditary neoplastic syndrome
• p.Gln189= Multiple submitters hereditary neoplastic syndrome
• p.Gln202= Multiple submitters hereditary neoplastic syndrome
• p.Gln21= Multiple submitters hereditary neoplastic syndrome
• p.Gln235= Multiple submitters hereditary neoplastic syndrome
• p.Gln394= Multiple submitters hereditary neoplastic syndrome
• p.Gln487= Multiple submitters hereditary neoplastic syndrome
• p.Gln582= Multiple submitters hereditary neoplastic syndrome
• p.Gln636= Multiple submitters hereditary neoplastic syndrome
• p.Gln692= Multiple submitters hereditary neoplastic syndrome
• p.Gln720= Multiple submitters hereditary neoplastic syndrome
• p.Gln74= Multiple submitters hereditary neoplastic syndrome
• p.Gln794= Multiple submitters hereditary neoplastic syndrome
• p.Gln843= Multiple submitters familial adenomatous polyposis 4
• p.Gln876= Multiple submitters hereditary neoplastic syndrome
• p.Gln908= Multiple submitters hereditary neoplastic syndrome
• p.Gln949Arg Multiple submitters hereditary neoplastic syndrome
• p.Gln969= Multiple submitters hereditary neoplastic syndrome
• p.Glu1016= Multiple submitters hereditary neoplastic syndrome
• p.Glu1047= Multiple submitters hereditary neoplastic syndrome
• p.Glu108= Multiple submitters hereditary neoplastic syndrome
• p.Glu1092= Multiple submitters hereditary neoplastic syndrome
• p.Glu1094= Multiple submitters familial adenomatous polyposis 4
• p.Glu1125= Multiple submitters hereditary neoplastic syndrome
• p.Glu1130= Multiple submitters hereditary neoplastic syndrome
• p.Glu211= Multiple submitters hereditary neoplastic syndrome
• p.Glu233= Multiple submitters hereditary neoplastic syndrome
• p.Glu251= Multiple submitters hereditary neoplastic syndrome
• p.Glu358= Multiple submitters hereditary neoplastic syndrome
• p.Glu434= Multiple submitters hereditary neoplastic syndrome
• p.Glu437= Multiple submitters hereditary neoplastic syndrome
• p.Glu496= Multiple submitters hereditary neoplastic syndrome
• p.Glu512= Multiple submitters hereditary neoplastic syndrome
• p.Glu516= Multiple submitters hereditary neoplastic syndrome
• p.Glu683= Multiple submitters hereditary neoplastic syndrome
• p.Glu701= Multiple submitters hereditary neoplastic syndrome
• p.Glu797= Multiple submitters hereditary neoplastic syndrome
• p.Glu806= Multiple submitters hereditary neoplastic syndrome
• p.Glu812= Multiple submitters hereditary neoplastic syndrome
• p.Glu889= Multiple submitters hereditary neoplastic syndrome
• p.Glu925= Multiple submitters hereditary neoplastic syndrome
• p.Gly1026= Multiple submitters hereditary neoplastic syndrome
• p.Gly1031= Multiple submitters hereditary neoplastic syndrome
• p.Gly1044= Multiple submitters hereditary neoplastic syndrome
• p.Gly117= Multiple submitters hereditary neoplastic syndrome
• p.Gly204= Multiple submitters hereditary neoplastic syndrome
• p.Gly253= Multiple submitters hereditary neoplastic syndrome
• p.Gly305= Multiple submitters hereditary neoplastic syndrome
• p.Gly319= Multiple submitters hereditary neoplastic syndrome
• p.Gly32= Multiple submitters hereditary neoplastic syndrome
• p.Gly50= Multiple submitters hereditary neoplastic syndrome
• p.Gly50= Multiple submitters hereditary neoplastic syndrome
• p.Gly539= Multiple submitters hereditary neoplastic syndrome
• p.Gly572= Multiple submitters hereditary neoplastic syndrome
• p.Gly624= Multiple submitters hereditary neoplastic syndrome
• p.Gly697= Multiple submitters hereditary neoplastic syndrome
• p.Gly844= Multiple submitters hereditary neoplastic syndrome
• p.Gly862= Multiple submitters hereditary neoplastic syndrome
• p.Gly896= Multiple submitters hereditary neoplastic syndrome
• p.Gly9= Multiple submitters hereditary neoplastic syndrome
• p.Gly901= Multiple submitters hereditary neoplastic syndrome
• p.His1029= Multiple submitters hereditary neoplastic syndrome
• p.His1137= Multiple submitters hereditary neoplastic syndrome
• p.His176= Multiple submitters hereditary neoplastic syndrome
• p.His210= Multiple submitters hereditary neoplastic syndrome
• p.His243= Multiple submitters hereditary neoplastic syndrome
• p.His293= Multiple submitters hereditary neoplastic syndrome
• p.His467= Multiple submitters hereditary neoplastic syndrome
• p.His647= Multiple submitters hereditary neoplastic syndrome
• p.His684= Multiple submitters hereditary neoplastic syndrome
• p.His729= Multiple submitters hereditary neoplastic syndrome
• p.His78= Multiple submitters hereditary neoplastic syndrome
• p.His781= Multiple submitters hereditary neoplastic syndrome
• p.His817= Multiple submitters hereditary neoplastic syndrome
• p.His827= Multiple submitters hereditary neoplastic syndrome
• p.His864= Multiple submitters hereditary neoplastic syndrome
• p.His984= Multiple submitters hereditary neoplastic syndrome
• p.Ile1082= Multiple submitters hereditary neoplastic syndrome
• p.Ile228= Multiple submitters hereditary neoplastic syndrome
• p.Ile348= Multiple submitters hereditary neoplastic syndrome
• p.Ile388= Multiple submitters hereditary neoplastic syndrome
• p.Ile440= Multiple submitters hereditary neoplastic syndrome
• p.Ile453= Multiple submitters hereditary neoplastic syndrome
• p.Ile492= Multiple submitters hereditary neoplastic syndrome
• p.Ile547= Multiple submitters hereditary neoplastic syndrome
• p.Ile655= Multiple submitters hereditary neoplastic syndrome
• p.Ile726= Multiple submitters hereditary neoplastic syndrome
• p.Ile785= Multiple submitters hereditary neoplastic syndrome
• p.Ile79Val Multiple submitters hereditary neoplastic syndrome
• p.Ile857= Multiple submitters hereditary neoplastic syndrome
• p.Ile893= Multiple submitters hereditary neoplastic syndrome
• p.Ile912= Multiple submitters hereditary neoplastic syndrome
• p.Ile962= Multiple submitters hereditary neoplastic syndrome
• p.Ile963= Multiple submitters hereditary neoplastic syndrome
• p.Leu1056= Multiple submitters hereditary neoplastic syndrome
• p.Leu1070= Multiple submitters hereditary neoplastic syndrome
• p.Leu1096= Multiple submitters hereditary neoplastic syndrome
• p.Leu11= Multiple submitters hereditary neoplastic syndrome
• p.Leu1110= Multiple submitters hereditary neoplastic syndrome
• p.Leu1119= Multiple submitters hereditary neoplastic syndrome
• p.Leu113= Multiple submitters hereditary neoplastic syndrome
• p.Leu137= Multiple submitters hereditary neoplastic syndrome
• p.Leu146= Multiple submitters hereditary neoplastic syndrome
• p.Leu156= Multiple submitters hereditary neoplastic syndrome
• p.Leu174= Multiple submitters hereditary neoplastic syndrome
• p.Leu175= Multiple submitters hereditary neoplastic syndrome
• p.Leu197= Multiple submitters hereditary neoplastic syndrome
• p.Leu213= Multiple submitters hereditary neoplastic syndrome
• p.Leu232= Multiple submitters hereditary neoplastic syndrome
• p.Leu24= Multiple submitters hereditary neoplastic syndrome
• p.Leu297= Multiple submitters hereditary neoplastic syndrome
• p.Leu315= Multiple submitters hereditary neoplastic syndrome
• p.Leu330= Multiple submitters hereditary neoplastic syndrome
• p.Leu34= Multiple submitters hereditary neoplastic syndrome
• p.Leu368= Multiple submitters hereditary neoplastic syndrome
• p.Leu369= Multiple submitters hereditary neoplastic syndrome
• p.Leu414= Multiple submitters hereditary neoplastic syndrome
• p.Leu439= Multiple submitters hereditary neoplastic syndrome
• p.Leu495= Multiple submitters hereditary neoplastic syndrome
• p.Leu510= Multiple submitters hereditary neoplastic syndrome
• p.Leu515= Multiple submitters hereditary neoplastic syndrome
• p.Leu519= Multiple submitters hereditary neoplastic syndrome
• p.Leu528= Multiple submitters hereditary neoplastic syndrome
• p.Leu548= Multiple submitters hereditary neoplastic syndrome
• p.Leu560= Multiple submitters hereditary neoplastic syndrome
• p.Leu561= Multiple submitters hereditary neoplastic syndrome
• p.Leu576= Multiple submitters hereditary neoplastic syndrome
• p.Leu584= Multiple submitters hereditary neoplastic syndrome
• p.Leu601= Multiple submitters hereditary neoplastic syndrome
• p.Leu615= Multiple submitters hereditary neoplastic syndrome
• p.Leu618= Multiple submitters hereditary neoplastic syndrome
• p.Leu645= Multiple submitters hereditary neoplastic syndrome
• p.Leu678= Multiple submitters hereditary neoplastic syndrome
• p.Leu686= Multiple submitters hereditary neoplastic syndrome
• p.Leu711= Multiple submitters hereditary neoplastic syndrome
• p.Leu737= Multiple submitters hereditary neoplastic syndrome
• p.Leu75= Multiple submitters hereditary neoplastic syndrome
• p.Leu792= Multiple submitters hereditary neoplastic syndrome
• p.Leu799= Multiple submitters hereditary neoplastic syndrome
• p.Leu801= Multiple submitters hereditary neoplastic syndrome
• p.Leu811= Multiple submitters hereditary neoplastic syndrome
• p.Leu837= Multiple submitters hereditary neoplastic syndrome
• p.Leu91= Multiple submitters hereditary neoplastic syndrome