CTNNA1 — 3323 ClinVar variants

Pathogenic 177

• p.Ala128fs Multiple submitters hereditary neoplastic syndrome
• p.Ala24fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala80fs Multiple submitters hereditary neoplastic syndrome
• p.Arg332Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg424fs Multiple submitters hereditary neoplastic syndrome
• p.Arg451Ter Multiple submitters patterned macular dystrophy 2
• p.Arg540fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg546fs Multiple submitters hereditary neoplastic syndrome
• p.Arg616fs Multiple submitters
• p.Arg98Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asn217fs Multiple submitters hereditary neoplastic syndrome
• p.Asn49Ter Multiple submitters hereditary neoplastic syndrome
• p.Asp640_Ser641insTer Multiple submitters hereditary neoplastic syndrome
• p.Asp642_Phe643insTer Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln195Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln206Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln247fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln247Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln260Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln342Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln345Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln421Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln476Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln590Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu307fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Glu336fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Glu444fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Glu559fs Multiple submitters hereditary neoplastic syndrome
• p.Glu608Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu686Ter Multiple submitters hereditary neoplastic syndrome
• p.Ile431fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ile528fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu29fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu32fs Multiple submitters hereditary neoplastic syndrome
• p.Leu457fs Multiple submitters hereditary neoplastic syndrome
• p.Leu471Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys193Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys373Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys51fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Lys75fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Pro635fs Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Pro735fs Multiple submitters hereditary neoplastic syndrome
• p.Ser268Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser515Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser652delinsAspArgArgPheTer Multiple submitters hereditary neoplastic syndrome
• p.Thr34fs Multiple submitters hereditary neoplastic syndrome
• p.Trp13Ter Multiple submitters hereditary neoplastic syndrome
• p.Trp491Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr351Ter Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val447fs Multiple submitters hereditary neoplastic syndrome
• p.Val583fs Multiple submitters hereditary neoplastic syndrome
• c.1297-13393del Single submitter
• c.-5-62_-5-49del Single submitter patterned macular dystrophy 2
• p.Ala261fs Single submitter hereditary neoplastic syndrome
• p.Ala316fs Single submitter hereditary neoplastic syndrome
• p.Ala682fs Single submitter colorectal cancer
• p.Ala746fs Single submitter hereditary neoplastic syndrome
• p.Arg194fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Arg341fs Single submitter hereditary neoplastic syndrome
• p.Arg379fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Arg451fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Arg496fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Arg54fs Single submitter
• p.Arg651fs Single submitter
• p.Asn166fs Single submitter hereditary neoplastic syndrome
• p.Asn188fs Single submitter hereditary neoplastic syndrome
• p.Asn442fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asn483fs Single submitter hereditary neoplastic syndrome
• p.Asn517fs Single submitter
• p.Asp200fs Single submitter hereditary neoplastic syndrome
• p.Asp377fs Single submitter hereditary neoplastic syndrome
• p.Asp500fs Single submitter
• p.Asp522fs Single submitter
• p.Asp534fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asp624fs Single submitter hereditary neoplastic syndrome
• p.Asp661_Gln662delinsTer Single submitter hereditary neoplastic syndrome
• p.Asp661fs Single submitter hereditary neoplastic syndrome
• p.Asp728fs Single submitter
• p.Asp769fs Single submitter
• p.Asp77fs Single submitter
• p.Cys116fs Single submitter
• p.Cys116Ter Single submitter hereditary neoplastic syndrome
• p.Cys337fs Single submitter
• p.Gln171Ter Single submitter
• p.Gln226Ter Single submitter hereditary neoplastic syndrome
• p.Gln463Ter Single submitter
• p.Gln481fs Single submitter
• p.Gln590fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gln604Ter Single submitter
• p.Gln667Ter Single submitter
• p.Gln678Ter Single submitter
• p.Gln67Ter Single submitter
• p.Gln687Ter Single submitter hereditary neoplastic syndrome
• p.Gln774Ter Single submitter
• p.Glu110Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu19Ter Single submitter
• p.Glu298Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu336_Cys337insTer Single submitter
• p.Glu359fs Single submitter hereditary neoplastic syndrome
• p.Glu359Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu418Ter Single submitter
• p.Glu432Ter Single submitter
• p.Glu489fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu492fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu636fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu644Ter Single submitter
• p.Glu646fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu659Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gly274fs Single submitter
• p.Gly46fs Single submitter hereditary neoplastic syndrome
• p.Gly53fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gly76_Asp77insTer Single submitter
• p.His203fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ile161fs Single submitter
• p.Ile189_Ala191delinsTer Single submitter
• p.Ile220fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ile289fs Single submitter hereditary neoplastic syndrome
• p.Ile612fs Single submitter
• p.Ile749fs Single submitter hereditary neoplastic syndrome
• p.Ile9fs Single submitter
• p.Leu131fs Single submitter
• p.Leu150Ter Single submitter
• p.Leu18fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Leu23fs Single submitter
• p.Leu294fs Single submitter
• p.Leu305fs Single submitter hereditary neoplastic syndrome
• p.Leu309fs Single submitter
• p.Leu430Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Leu73Ter Single submitter hereditary neoplastic syndrome
• p.Lys105Ter Single submitter
• p.Lys12fs Single submitter
• p.Lys246Ter Single submitter
• p.Lys287fs Single submitter
• p.Lys373fs Single submitter
• p.Lys414Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Lys429_Leu430insTer Single submitter
• p.Lys488Ter Single submitter
• p.Lys493fs Single submitter polyposis syndrome, hereditary mixed, 1
• p.Lys533Ter Single submitter hereditary neoplastic syndrome
• p.Lys56fs Single submitter
• p.Lys571fs Single submitter
• p.Lys75Ter Single submitter hereditary neoplastic syndrome
• p.Met371fs Single submitter
• p.Met484fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Met606fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Met724fs Single submitter
• p.Phe643Ter Single submitter
• p.Phe729fs Single submitter
• p.Phe72fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Pro293_Leu294insTer Single submitter
• p.Ser17fs Single submitter hereditary neoplastic syndrome
• p.Ser297fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ser311fs Single submitter
• p.Ser349Ter Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ser453fs Single submitter hereditary neoplastic syndrome
• p.Ser477fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ser48fs Single submitter
• p.Thr727fs Single submitter hereditary neoplastic syndrome
• p.Trp705Ter Single submitter
• p.Tyr177_Lys178delinsTer Single submitter hereditary neoplastic syndrome
• p.Tyr177Ter Single submitter
• p.Tyr222fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Tyr245fs Single submitter
• p.Tyr619fs Single submitter hereditary neoplastic syndrome
• p.Tyr779Ter Single submitter
• p.Tyr786Ter Single submitter
• p.Val403fs Single submitter hereditary breast ovarian cancer syndrome
• p.Val40Ter Single submitter
• p.Val416fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Val495fs Single submitter hereditary neoplastic syndrome
• p.Val535fs Single submitter
• p.Val552fs Single submitter hereditary neoplastic syndrome
• p.Asp509_Asp510insTer No assertion criteria colorectal cancer
• p.Glu307Lys No assertion criteria patterned macular dystrophy 2 ⚠
• p.Lys867fs No assertion criteria colorectal cancer
• p.Lys99fs No assertion criteria colorectal cancer
• p.Ser349fs No assertion criteria colorectal cancer

Pathogenic/Likely pathogenic 13

• c.302-2_302-1del Multiple submitters patterned macular dystrophy 2
• p.Ala665fs Multiple submitters hereditary neoplastic syndrome
• p.Arg121Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg546Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg731Ter Multiple submitters patterned macular dystrophy 2
• p.Asn524fs Multiple submitters patterned macular dystrophy 2
• p.Gln494Ter Multiple submitters patterned macular dystrophy 2
• p.Gln531fs Multiple submitters CTNNA1-related diffuse gastric and lobular breast cancer syndrome
• p.Glu66fs Multiple submitters hereditary neoplastic syndrome
• p.Gly666fs Multiple submitters hereditary neoplastic syndrome
• p.Leu402fs Multiple submitters patterned macular dystrophy 2
• p.Met673fs Multiple submitters hereditary neoplastic syndrome
• p.Thr136fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 45

• c.105+1G>C Multiple submitters hereditary neoplastic syndrome
• c.106-2A>C Multiple submitters hereditary neoplastic syndrome
• c.1390-1G>A Multiple submitters
• c.1390-2A>G Multiple submitters hereditary neoplastic syndrome
• c.1899+1G>C Multiple submitters hereditary neoplastic syndrome
• c.301+1G>A Multiple submitters hereditary neoplastic syndrome
• c.468+1G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.468+1G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1032_1062+41del Single submitter
• c.105+2T>C Single submitter
• c.106-1G>A Single submitter
• c.106-1G>T Single submitter
• c.1390-2A>C Single submitter hereditary neoplastic syndrome
• c.1390-6_1392delinsA Single submitter hereditary diffuse gastric adenocarcinoma
• c.1547-1G>A Single submitter hereditary neoplastic syndrome
• c.1899+1del Single submitter hereditary neoplastic syndrome
• c.1899+1G>A Single submitter
• c.1900-2A>T Single submitter
• c.2011-1G>A Single submitter
• c.2189_2192+6del Single submitter
• c.2192+1G>A Single submitter
• c.2192+1G>T Single submitter hereditary neoplastic syndrome
• c.2192+2_2192+16del Single submitter
• c.2193-2A>G Single submitter
• c.2298+1G>C Single submitter
• c.302-1G>A Single submitter hereditary diffuse gastric adenocarcinoma
• c.302-1G>C Single submitter hereditary neoplastic syndrome
• c.302-2A>G Single submitter hereditary diffuse gastric adenocarcinoma
• c.468+1G>A Single submitter
• c.468+2T>C Single submitter
• c.588+1G>A Single submitter
• c.859-2A>G Single submitter
• p.Arg670fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gln494fs Single submitter
• p.Glu310fs Single submitter patterned macular dystrophy 2
• p.Glu659fs Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gly566fs Single submitter
• p.Leu318Ser Single submitter CTNNA1-related disorders
• p.Lys370_Met371insTer Single submitter
• p.Lys448fs Single submitter
• c.2433+215_2433+218del No assertion criteria CTNNA1-related disorder
• p.Asn738fs No assertion criteria colorectal cancer
• p.Ile79fs No assertion criteria polyposis syndrome, hereditary mixed, 1
• p.Leu520fs No assertion criteria polyposis syndrome, hereditary mixed, 1
• p.Ser858_Lys862dup No assertion criteria craniosynostosis

Conflicting classifications of pathogenicity 152

• c.105+3A>G Single submitter hereditary neoplastic syndrome
• c.106-4T>G Single submitter hereditary neoplastic syndrome
• c.1063-5del Single submitter hereditary neoplastic syndrome
• c.1143+4A>G Single submitter hereditary neoplastic syndrome
• c.1143+5T>C Single submitter patterned macular dystrophy 2
• c.1144-5A>C Single submitter hereditary neoplastic syndrome
• c.1144-5A>T Single submitter hereditary neoplastic syndrome
• c.1297-3T>C Single submitter hereditary neoplastic syndrome
• c.1297-5T>C Single submitter hereditary neoplastic syndrome
• c.1389+6G>A Single submitter
• c.1547-11T>A Single submitter
• c.1747+4C>A Single submitter hereditary neoplastic syndrome
• c.1747+5G>A Single submitter hereditary neoplastic syndrome
• c.1748-5C>T Single submitter hereditary neoplastic syndrome
• c.1748-6C>T Single submitter hereditary neoplastic syndrome
• c.1899+4A>G Single submitter patterned macular dystrophy 2
• c.2192+3G>A Single submitter hereditary diffuse gastric adenocarcinoma
• c.2192+4A>C Single submitter hereditary neoplastic syndrome
• c.2193-5C>G Single submitter hereditary neoplastic syndrome
• c.2299-5T>C Single submitter hereditary neoplastic syndrome
• c.2433+217del Single submitter patterned macular dystrophy 2
• c.2434-5C>G Single submitter hereditary neoplastic syndrome
• c.469-5TA[3] Single submitter patterned macular dystrophy 2
• c.588+3A>G Single submitter hereditary neoplastic syndrome
• c.589-5T>C Single submitter patterned macular dystrophy 2
• c.858+1G>A Single submitter hereditary neoplastic syndrome ⚠
• c.859-4G>A Single submitter hereditary neoplastic syndrome
• c.859-5T>C Single submitter hereditary neoplastic syndrome
• c.859-7T>G Single submitter
• c.859-8del Single submitter hereditary diffuse gastric adenocarcinoma
• c.-2-5T>C Single submitter hereditary neoplastic syndrome
• p.Ala106Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala112Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala179Val Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Ala235Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala363Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala437Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala467= Single submitter patterned macular dystrophy 2
• p.Ala603Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala6Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala80Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala835Val Single submitter patterned macular dystrophy 2 ⚠
• p.Ala850Val Single submitter hereditary neoplastic syndrome ⚠
• p.Arg121Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg129Ter Single submitter hereditary neoplastic syndrome ⚠
• p.Arg137Trp Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Arg204His Single submitter hereditary diffuse gastric adenocarcinoma ⚠
• p.Arg27Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg357Cys Single submitter patterned macular dystrophy 2 ⚠
• p.Arg357His Single submitter patterned macular dystrophy 2 ⚠
• p.Arg360fs Single submitter hereditary neoplastic syndrome ⚠
• p.Arg379His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg451Gln Single submitter patterned macular dystrophy 2 ⚠
• p.Arg496His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg540His Single submitter CTNNA1-related disorder ⚠
• p.Arg54His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg633= Single submitter hereditary neoplastic syndrome
• p.Arg782Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg98Gln Single submitter CTNNA1-related disorder ⚠
• p.Asn123Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn169Asp Single submitter patterned macular dystrophy 2 ⚠
• p.Asn169Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn188Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn240Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Asn283Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn354= Single submitter hereditary neoplastic syndrome
• p.Asn365Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn398Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn398Ser Single submitter hereditary diffuse gastric adenocarcinoma ⚠
• p.Asn412Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn428Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn435Ser Single submitter patterned macular dystrophy 2 ⚠
• p.Asn43Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn443Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn581Ser Single submitter CTNNA1-related disorder ⚠
• p.Asn853= Single submitter hereditary neoplastic syndrome
• p.Asn853Ser Single submitter CTNNA1-related disorder ⚠
• p.Asp113Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp159Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp265Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp362Glu Single submitter patterned macular dystrophy 2 ⚠
• p.Asp500Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp561Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp96Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp96Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Gln100Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln176Ter Single submitter hereditary neoplastic syndrome ⚠
• p.Gln269= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gln531= Single submitter hereditary neoplastic syndrome
• p.Gln604Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gln657Ter Single submitter hereditary neoplastic syndrome ⚠
• p.Gln675Ter Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Gln67Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln67Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gln831His Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Glu636= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu646Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly160Asp Single submitter patterned macular dystrophy 2 ⚠
• p.Gly168Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly273Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Gly276dup Single submitter CTNNA1-related disorder
• p.Gly76= Single submitter hereditary neoplastic syndrome
• p.His270Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.His554Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Ile161Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile175Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ile213Val Single submitter patterned macular dystrophy 2 ⚠
• p.Ile244Leu Single submitter CTNNA1-related disorder ⚠
• p.Ile368Val Single submitter patterned macular dystrophy 2 ⚠
• p.Ile431Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile465Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile882Met Single submitter hereditary neoplastic syndrome ⚠
• p.Leu243Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu28= Single submitter hereditary neoplastic syndrome
• p.Leu807Val Single submitter hereditary neoplastic syndrome ⚠
• p.Leu852Phe Single submitter patterned macular dystrophy 2 ⚠
• p.Lys149Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys216del Single submitter hereditary neoplastic syndrome
• p.Lys51del Single submitter hereditary neoplastic syndrome
• p.Lys533Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys758Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys75Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys901Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Met124Val Single submitter patterned macular dystrophy 2 ⚠
• p.Met144Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met1Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met484Val Single submitter hereditary neoplastic syndrome ⚠
• p.Pro893Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ser297Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Ser322Leu Single submitter patterned macular dystrophy 2 ⚠
• p.Ser44Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ser600Leu Single submitter patterned macular dystrophy 2 ⚠
• p.Ser83Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser898= Single submitter hereditary nonpolyposis colon cancer
• p.Ser898Gly Single submitter hereditary neoplastic syndrome
• p.Ser905Asn Single submitter patterned macular dystrophy 2 ⚠
• p.Thr397= Single submitter hereditary neoplastic syndrome
• p.Thr42Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Thr582= Single submitter hereditary neoplastic syndrome
• p.Thr841Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr237Cys Single submitter patterned macular dystrophy 2 ⚠
• p.Tyr245His Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr280Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Val156= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Val201Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val390Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val403Ile Single submitter CTNNA1-related disorder ⚠
• p.Val555Ile Single submitter patterned macular dystrophy 2 ⚠
• p.Val591Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val800= Single submitter hereditary neoplastic syndrome
• p.Val891Met Single submitter hereditary neoplastic syndrome ⚠
• p.Val94= Single submitter hereditary nonpolyposis colon cancer

Benign 60

• c.2434-28C>A Multiple submitters
• c.858+16G>A Multiple submitters
• c.105+220A>G Single submitter
• c.1062+169T>C Single submitter
• c.1063-13del Single submitter
• c.1143+5_1143+8delinsCCTC Single submitter hereditary diffuse gastric adenocarcinoma
• c.1144-185C>G Single submitter
• c.1296+302A>G Single submitter
• c.1297-11dup Single submitter
• c.1390-207_1390-204del Single submitter
• c.1546+18del Single submitter
• c.1546+18dup Single submitter
• c.1547-208del Single submitter
• c.1547-209C>A Single submitter
• c.1547-210del Single submitter
• c.1547-214A>T Single submitter
• c.1547-215dup Single submitter
• c.1547-216_1547-215dup Single submitter
• c.1900-295dup Single submitter
• c.2010+21del Single submitter
• c.2010+21dup Single submitter
• c.2011-96A>G Single submitter
• c.2299-75T>A Single submitter
• c.302-267C>T Single submitter
• c.302-286dup Single submitter
• c.468+330T>C Single submitter
• c.469-354A>G Single submitter
• c.588+73T>C Single submitter
• c.589-163A>G Single submitter
• c.*10G>A Single submitter hereditary diffuse gastric adenocarcinoma
• c.*10G>C Single submitter hereditary diffuse gastric adenocarcinoma
• c.*1G>A Single submitter hereditary diffuse gastric adenocarcinoma
• c.*380C>T Single submitter
• c.*3C>T Single submitter hereditary diffuse gastric adenocarcinoma
• c.*4T>C Single submitter hereditary diffuse gastric adenocarcinoma
• c.*4T>G Single submitter hereditary diffuse gastric adenocarcinoma
• c.*5G>A Single submitter hereditary diffuse gastric adenocarcinoma
• c.*7C>T Single submitter hereditary diffuse gastric adenocarcinoma
• c.*8C>T Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ala459= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ala473= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ala685= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ala778= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Arg761= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asn338= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asn802= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asp292= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asp369= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Asp640= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu489= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Glu589= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Gly621= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Lys120= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ser17= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ser477= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ser652= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Ter907= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Thr730= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Val25= Single submitter hereditary diffuse gastric adenocarcinoma
• p.Val796= Single submitter hereditary diffuse gastric adenocarcinoma

Benign/Likely benign 269

• c.106-3T>C Multiple submitters hereditary neoplastic syndrome
• c.1063-8T>G Multiple submitters
• c.1143+8G>C Multiple submitters hereditary neoplastic syndrome
• c.1389+10A>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1390-11A>G Multiple submitters patterned macular dystrophy 2
• c.1747+20C>G Multiple submitters
• c.1748-16G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1899+18A>G Multiple submitters patterned macular dystrophy 2
• c.2433+7A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-4G>A Multiple submitters hereditary neoplastic syndrome
• c.2434-5C>T Multiple submitters hereditary neoplastic syndrome
• c.301+20T>G Multiple submitters patterned macular dystrophy 2
• c.302-7A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.588+4_588+5del Multiple submitters patterned macular dystrophy 2
• c.588+45A>G Multiple submitters
• p.Ala106= Multiple submitters hereditary neoplastic syndrome
• p.Ala108= Multiple submitters hereditary neoplastic syndrome
• p.Ala112= Multiple submitters hereditary neoplastic syndrome
• p.Ala134= Multiple submitters hereditary neoplastic syndrome
• p.Ala179= Multiple submitters hereditary neoplastic syndrome
• p.Ala210= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala227= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala235= Multiple submitters hereditary neoplastic syndrome
• p.Ala258= Multiple submitters hereditary neoplastic syndrome
• p.Ala263= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala3= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala317= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala320= Multiple submitters hereditary neoplastic syndrome
• p.Ala339= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala363= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala367= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala407= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala480= Multiple submitters hereditary nonpolyposis colon cancer
• p.Ala544= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala594= Multiple submitters patterned macular dystrophy 2
• p.Ala603= Multiple submitters hereditary neoplastic syndrome
• p.Ala628= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala63= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala671= Multiple submitters hereditary nonpolyposis colon cancer
• p.Ala682= Multiple submitters hereditary nonpolyposis colon cancer
• p.Ala689= Multiple submitters hereditary neoplastic syndrome
• p.Ala746= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala764= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala784= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ala835= Multiple submitters hereditary neoplastic syndrome
• p.Ala92= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg121= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg194= Multiple submitters hereditary neoplastic syndrome
• p.Arg211= Multiple submitters hereditary neoplastic syndrome
• p.Arg241= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg300= Multiple submitters hereditary neoplastic syndrome
• p.Arg302= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg308Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg330= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg332= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg383= Multiple submitters hereditary neoplastic syndrome
• p.Arg548= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Arg616= Multiple submitters hereditary neoplastic syndrome
• p.Arg755= Multiple submitters hereditary neoplastic syndrome
• p.Arg98= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asn217= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asn257Ser Multiple submitters hereditary nonpolyposis colon cancer
• p.Asn398= Multiple submitters hereditary neoplastic syndrome
• p.Asn41= Multiple submitters hereditary neoplastic syndrome
• p.Asn410= Multiple submitters hereditary neoplastic syndrome
• p.Asn443= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asn483= Multiple submitters hereditary neoplastic syndrome
• p.Asn824= Multiple submitters hereditary neoplastic syndrome
• p.Asn892= Multiple submitters hereditary neoplastic syndrome
• p.Asp159= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp185= Multiple submitters hereditary neoplastic syndrome
• p.Asp242= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp265= Multiple submitters hereditary neoplastic syndrome
• p.Asp266= Multiple submitters hereditary neoplastic syndrome
• p.Asp321= Multiple submitters hereditary nonpolyposis colon cancer
• p.Asp328= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp346= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp362= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp377= Multiple submitters hereditary neoplastic syndrome
• p.Asp534= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp561= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp624= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp649= Multiple submitters hereditary neoplastic syndrome
• p.Asp660= Multiple submitters hereditary neoplastic syndrome
• p.Asp706= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp769= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp77= Multiple submitters hereditary neoplastic syndrome
• p.Asp813= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Asp904= Multiple submitters hereditary neoplastic syndrome
• p.Cys116= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Cys228= Multiple submitters hereditary neoplastic syndrome
• p.Gln195= Multiple submitters hereditary neoplastic syndrome
• p.Gln206His Multiple submitters patterned macular dystrophy 2 ⚠
• p.Gln226= Multiple submitters hereditary neoplastic syndrome
• p.Gln271= Multiple submitters hereditary neoplastic syndrome
• p.Gln342= Multiple submitters hereditary neoplastic syndrome
• p.Gln345= Multiple submitters hereditary neoplastic syndrome
• p.Gln421= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln476= Multiple submitters hereditary neoplastic syndrome
• p.Gln718= Multiple submitters hereditary neoplastic syndrome
• p.Gln781= Multiple submitters patterned macular dystrophy 2
• p.Gln801= Multiple submitters hereditary neoplastic syndrome
• p.Gln831= Multiple submitters hereditary neoplastic syndrome
• p.Gln844= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gln875= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Glu170= Multiple submitters hereditary neoplastic syndrome
• p.Glu197= Multiple submitters hereditary neoplastic syndrome
• p.Glu298= Multiple submitters hereditary neoplastic syndrome
• p.Glu299= Multiple submitters hereditary neoplastic syndrome
• p.Glu30= Multiple submitters hereditary neoplastic syndrome
• p.Glu331= Multiple submitters hereditary neoplastic syndrome
• p.Glu415= Multiple submitters hereditary nonpolyposis colon cancer
• p.Glu482= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Glu492= Multiple submitters hereditary neoplastic syndrome
• p.Glu570= Multiple submitters hereditary neoplastic syndrome
• p.Glu637= Multiple submitters hereditary neoplastic syndrome
• p.Glu66= Multiple submitters hereditary neoplastic syndrome
• p.Glu70= Multiple submitters hereditary neoplastic syndrome
• p.Glu806= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Glu82= Multiple submitters hereditary neoplastic syndrome
• p.Glu873= Multiple submitters hereditary neoplastic syndrome
• p.Gly109= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gly174= Multiple submitters hereditary neoplastic syndrome
• p.Gly272= Multiple submitters hereditary neoplastic syndrome
• p.Gly356= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gly53= Multiple submitters hereditary neoplastic syndrome
• p.Gly537= Multiple submitters hereditary neoplastic syndrome
• p.Gly547= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gly760= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gly804= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gly805= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Gly848= Multiple submitters hereditary neoplastic syndrome
• p.His231= Multiple submitters hereditary neoplastic syndrome
• p.His270= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.His389= Multiple submitters hereditary nonpolyposis colon cancer
• p.His5= Multiple submitters hereditary neoplastic syndrome
• p.His554= Multiple submitters hereditary neoplastic syndrome
• p.His59= Multiple submitters hereditary neoplastic syndrome
• p.His766= Multiple submitters hereditary nonpolyposis colon cancer
• p.His890= Multiple submitters hereditary neoplastic syndrome
• p.Ile161= Multiple submitters hereditary neoplastic syndrome
• p.Ile244= Multiple submitters hereditary neoplastic syndrome
• p.Ile289= Multiple submitters hereditary nonpolyposis colon cancer
• p.Ile290= Multiple submitters hereditary neoplastic syndrome
• p.Ile505= Multiple submitters hereditary neoplastic syndrome
• p.Ile612= Multiple submitters hereditary neoplastic syndrome
• p.Ile625= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ile712= Multiple submitters hereditary neoplastic syndrome
• p.Ile783= Multiple submitters hereditary neoplastic syndrome
• p.Ile906= Multiple submitters hereditary neoplastic syndrome
• p.Leu139= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu173= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu187= Multiple submitters hereditary neoplastic syndrome
• p.Leu198= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu221= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu23= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu278= Multiple submitters hereditary neoplastic syndrome
• p.Leu282= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu294= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu318= Multiple submitters hereditary neoplastic syndrome
• p.Leu32= Multiple submitters hereditary neoplastic syndrome
• p.Leu347= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu348= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu364= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu449= Multiple submitters hereditary neoplastic syndrome
• p.Leu469= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Leu498= Multiple submitters hereditary neoplastic syndrome
• p.Leu512= Multiple submitters hereditary neoplastic syndrome
• p.Leu573= Multiple submitters hereditary neoplastic syndrome
• p.Leu579= Multiple submitters hereditary neoplastic syndrome
• p.Leu638= Multiple submitters hereditary neoplastic syndrome
• p.Leu776= Multiple submitters hereditary neoplastic syndrome
• p.Leu777= Multiple submitters hereditary neoplastic syndrome
• p.Leu780= Multiple submitters hereditary neoplastic syndrome
• p.Leu790= Multiple submitters hereditary neoplastic syndrome
• p.Leu803= Multiple submitters hereditary neoplastic syndrome
• p.Leu897= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Lys163= Multiple submitters hereditary neoplastic syndrome
• p.Lys216= Multiple submitters hereditary neoplastic syndrome
• p.Lys287= Multiple submitters hereditary neoplastic syndrome
• p.Lys384= Multiple submitters hereditary neoplastic syndrome
• p.Lys429= Multiple submitters hereditary neoplastic syndrome
• p.Lys448= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Lys577= Multiple submitters hereditary neoplastic syndrome
• p.Lys681= Multiple submitters hereditary neoplastic syndrome
• p.Lys695= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Lys717= Multiple submitters hereditary neoplastic syndrome
• p.Lys75= Multiple submitters hereditary neoplastic syndrome
• p.Lys758= Multiple submitters hereditary neoplastic syndrome
• p.Lys871= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Lys874= Multiple submitters hereditary neoplastic syndrome
• p.Lys883= Multiple submitters hereditary neoplastic syndrome
• p.Lys889= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Phe11= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Phe111= Multiple submitters hereditary neoplastic syndrome
• p.Phe285= Multiple submitters hereditary neoplastic syndrome
• p.Phe487= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Phe611= Multiple submitters hereditary neoplastic syndrome
• p.Phe729= Multiple submitters hereditary neoplastic syndrome
• p.Pro182= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Pro219Ser Multiple submitters hereditary nonpolyposis colon cancer
• p.Pro293= Multiple submitters hereditary neoplastic syndrome
• p.Pro400= Multiple submitters hereditary neoplastic syndrome
• p.Pro47= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Pro585= Multiple submitters hereditary neoplastic syndrome
• p.Pro768= Multiple submitters hereditary neoplastic syndrome
• p.Pro855= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Pro864= Multiple submitters hereditary neoplastic syndrome
• p.Pro893= Multiple submitters hereditary neoplastic syndrome
• p.Ser225= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser268= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser297= Multiple submitters patterned macular dystrophy 2
• p.Ser314= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser349= Multiple submitters hereditary neoplastic syndrome
• p.Ser558= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser599= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser600= Multiple submitters hereditary neoplastic syndrome
• p.Ser615= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser641= Multiple submitters hereditary neoplastic syndrome
• p.Ser655= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser696= Multiple submitters hereditary neoplastic syndrome
• p.Ser740= Multiple submitters hereditary neoplastic syndrome
• p.Ser754= Multiple submitters hereditary neoplastic syndrome
• p.Ser770= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Ser814= Multiple submitters patterned macular dystrophy 2
• p.Ser817= Multiple submitters hereditary neoplastic syndrome
• p.Ser836= Multiple submitters hereditary neoplastic syndrome
• p.Ser846= Multiple submitters hereditary neoplastic syndrome
• p.Ser851= Multiple submitters hereditary neoplastic syndrome
• p.Thr2= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Thr22= Multiple submitters hereditary neoplastic syndrome
• p.Thr325= Multiple submitters hereditary neoplastic syndrome
• p.Thr34= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Thr37= Multiple submitters hereditary neoplastic syndrome
• p.Thr42= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Thr654= Multiple submitters hereditary neoplastic syndrome
• p.Thr658= Multiple submitters hereditary neoplastic syndrome
• p.Thr739= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Thr762= Multiple submitters hereditary neoplastic syndrome
• p.Thr841= Multiple submitters hereditary neoplastic syndrome
• p.Tyr351= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Tyr419= Multiple submitters hereditary neoplastic syndrome
• p.Tyr563= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Tyr568= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Tyr779= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Tyr786= Multiple submitters hereditary neoplastic syndrome
• p.Tyr837= Multiple submitters hereditary neoplastic syndrome
• p.Tyr843= Multiple submitters hereditary neoplastic syndrome
• p.Val119= Multiple submitters hereditary neoplastic syndrome
• p.Val147= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val234= Multiple submitters hereditary neoplastic syndrome
• p.Val252= Multiple submitters hereditary neoplastic syndrome
• p.Val334= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val36= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val399= Multiple submitters hereditary neoplastic syndrome
• p.Val40= Multiple submitters hereditary neoplastic syndrome
• p.Val403= Multiple submitters hereditary neoplastic syndrome
• p.Val416= Multiple submitters hereditary neoplastic syndrome
• p.Val495= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val523= Multiple submitters hereditary neoplastic syndrome
• p.Val527= Multiple submitters hereditary neoplastic syndrome
• p.Val552= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val583= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val60= Multiple submitters hereditary diffuse gastric adenocarcinoma
• p.Val65= Multiple submitters hereditary neoplastic syndrome
• p.Val656= Multiple submitters hereditary neoplastic syndrome
• p.Val742= Multiple submitters hereditary neoplastic syndrome
• p.Val808= Multiple submitters hereditary neoplastic syndrome
• p.Val838= Multiple submitters hereditary diffuse gastric adenocarcinoma

Likely benign 960

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

• c.105+20A>C Multiple submitters
• c.106-18T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.106-4T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1063-12C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1063-4C>A Multiple submitters hereditary neoplastic syndrome
• c.1063-4C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1063-6A>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1143+8_1143+9delinsCA Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1143+8G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1144-13A>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1144-5A>G Multiple submitters hereditary neoplastic syndrome
• c.1144-6C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1144-7T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1297-10del Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1297-11T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1297-12T>A Multiple submitters
• c.1297-19T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1297-4A>G Multiple submitters hereditary neoplastic syndrome
• c.1389+10A>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1389+12C>G Multiple submitters patterned macular dystrophy 2
• c.1389+8A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1390-6T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1390-7T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1546+10T>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1546+15C>T Multiple submitters
• c.1546+84A>G Multiple submitters
• c.1547-20A>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1547-9G>A Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1547-9G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1747+19T>G Multiple submitters
• c.1747+4C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1747+7G>A Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1747+9A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1748-10_1748-9del Multiple submitters
• c.1748-14C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1748-18G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1748-9T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1899+10T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-11C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-12_1900-9del Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-13dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-13G>A Multiple submitters
• c.1900-13G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-13G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-19A>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-20G>A Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-7G>A Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-9G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.1900-9G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2010+10C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2010+15C>T Multiple submitters
• c.2010+8A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2011-14G>A Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2011-17dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2011-18T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2011-20C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2011-4A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2011-5C>G Multiple submitters hereditary neoplastic syndrome
• c.2011-9T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2192+10_2192+69del Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2192+11C>A Multiple submitters
• c.2192+14C>T Multiple submitters
• c.2193-10_2193-9delinsTC Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2193-10C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2193-17C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2193-9T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2298+11G>A Multiple submitters
• c.2298+9C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2299-4T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2299-6C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2299-7T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2433+220T>G Multiple submitters patterned macular dystrophy 2
• c.2433+6dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-10dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-14del Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-14dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-14T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-16C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-4G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-7C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.2434-9G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.301+7C>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.302-14A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.468+17A>G Multiple submitters
• c.468+20T>A Multiple submitters
• c.468+7A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.468+7dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.468+8T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.469-16C>G Multiple submitters
• c.469-16C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.469-19G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.469-19G>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.469-20G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.469-4A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.469-8T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.588+17G>A Multiple submitters
• c.588+19G>T Multiple submitters patterned macular dystrophy 2
• c.588+8C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.588+9A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.589-13T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.589-19G>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.589-4G>T Multiple submitters hereditary neoplastic syndrome
• c.589-9C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.858+12T>C Multiple submitters
• c.858+13T>C Multiple submitters patterned macular dystrophy 2
• c.858+7T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.859-15A>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.859-16A>G Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.859-19G>A Multiple submitters
• c.859-20C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.859-8C>T Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.859-9dup Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.859-9T>C Multiple submitters hereditary diffuse gastric adenocarcinoma
• c.*13C>T Multiple submitters
• p.Ala167= Multiple submitters hereditary neoplastic syndrome
• p.Ala192= Multiple submitters hereditary neoplastic syndrome
• p.Ala224= Multiple submitters hereditary neoplastic syndrome
• p.Ala259= Multiple submitters hereditary neoplastic syndrome
• p.Ala281= Multiple submitters hereditary neoplastic syndrome
• p.Ala335= Multiple submitters hereditary neoplastic syndrome
• p.Ala408= Multiple submitters hereditary neoplastic syndrome
• p.Ala420= Multiple submitters hereditary neoplastic syndrome
• p.Ala434= Multiple submitters hereditary neoplastic syndrome
• p.Ala468= Multiple submitters hereditary neoplastic syndrome
• p.Ala529= Multiple submitters hereditary neoplastic syndrome
• p.Ala575= Multiple submitters hereditary neoplastic syndrome
• p.Ala58= Multiple submitters hereditary neoplastic syndrome
• p.Ala6= Multiple submitters hereditary neoplastic syndrome
• p.Ala614= Multiple submitters hereditary neoplastic syndrome
• p.Ala665= Multiple submitters hereditary neoplastic syndrome
• p.Ala68= Multiple submitters hereditary neoplastic syndrome
• p.Ala716= Multiple submitters hereditary neoplastic syndrome
• p.Ala745= Multiple submitters hereditary neoplastic syndrome
• p.Ala750= Multiple submitters hereditary neoplastic syndrome
• p.Ala902= Multiple submitters hereditary neoplastic syndrome
• p.Ala93= Multiple submitters hereditary neoplastic syndrome
• p.Arg129= Multiple submitters hereditary neoplastic syndrome
• p.Arg21= Multiple submitters hereditary neoplastic syndrome
• p.Arg496= Multiple submitters hereditary neoplastic syndrome
• p.Arg54= Multiple submitters hereditary neoplastic syndrome
• p.Arg540= Multiple submitters hereditary neoplastic syndrome
• p.Arg546= Multiple submitters hereditary neoplastic syndrome
• p.Arg551= Multiple submitters hereditary neoplastic syndrome
• p.Arg626= Multiple submitters hereditary neoplastic syndrome
• p.Arg653= Multiple submitters hereditary neoplastic syndrome
• p.Arg884= Multiple submitters hereditary neoplastic syndrome
• p.Asn10= Multiple submitters hereditary neoplastic syndrome
• p.Asn123= Multiple submitters hereditary neoplastic syndrome
• p.Asn257= Multiple submitters hereditary neoplastic syndrome
• p.Asn365= Multiple submitters hereditary neoplastic syndrome
• p.Asn43= Multiple submitters hereditary neoplastic syndrome
• p.Asn49= Multiple submitters hereditary neoplastic syndrome
• p.Asn517= Multiple submitters hereditary neoplastic syndrome
• p.Asn562= Multiple submitters hereditary neoplastic syndrome
• p.Asn581= Multiple submitters hereditary neoplastic syndrome
• p.Asn738= Multiple submitters hereditary neoplastic syndrome
• p.Asn8= Multiple submitters hereditary neoplastic syndrome
• p.Asp286= Multiple submitters hereditary neoplastic syndrome
• p.Asp613= Multiple submitters hereditary neoplastic syndrome
• p.Asp642= Multiple submitters hereditary neoplastic syndrome
• p.Asp757= Multiple submitters hereditary neoplastic syndrome
• p.Cys767= Multiple submitters hereditary neoplastic syndrome
• p.Gln206= Multiple submitters hereditary neoplastic syndrome
• p.Gln481= Multiple submitters hereditary neoplastic syndrome
• p.Gln604= Multiple submitters hereditary neoplastic syndrome
• p.Gln774= Multiple submitters hereditary neoplastic syndrome
• p.Gln847= Multiple submitters hereditary neoplastic syndrome
• p.Glu183= Multiple submitters hereditary neoplastic syndrome
• p.Glu19= Multiple submitters hereditary neoplastic syndrome
• p.Glu336= Multiple submitters hereditary neoplastic syndrome
• p.Glu350= Multiple submitters hereditary neoplastic syndrome
• p.Glu425= Multiple submitters hereditary neoplastic syndrome
• p.Glu532= Multiple submitters hereditary neoplastic syndrome
• p.Glu559= Multiple submitters hereditary neoplastic syndrome
• p.Glu644= Multiple submitters hereditary neoplastic syndrome
• p.Glu725= Multiple submitters hereditary neoplastic syndrome
• p.Glu751= Multiple submitters hereditary neoplastic syndrome
• p.Glu799= Multiple submitters hereditary neoplastic syndrome
• p.Glu899= Multiple submitters hereditary neoplastic syndrome
• p.Gly273= Multiple submitters hereditary neoplastic syndrome
• p.Gly275= Multiple submitters hereditary neoplastic syndrome
• p.Gly315= Multiple submitters hereditary neoplastic syndrome
• p.Gly411= Multiple submitters hereditary neoplastic syndrome
• p.Gly446= Multiple submitters hereditary neoplastic syndrome
• p.His426= Multiple submitters hereditary neoplastic syndrome
• p.Ile189= Multiple submitters hereditary neoplastic syndrome
• p.Ile220= Multiple submitters hereditary neoplastic syndrome
• p.Ile312= Multiple submitters hereditary neoplastic syndrome
• p.Ile313= Multiple submitters hereditary neoplastic syndrome
• p.Ile333= Multiple submitters hereditary nonpolyposis colon cancer
• p.Ile405= Multiple submitters hereditary neoplastic syndrome
• p.Ile431= Multiple submitters hereditary neoplastic syndrome
• p.Ile519= Multiple submitters hereditary neoplastic syndrome
• p.Ile684= Multiple submitters hereditary neoplastic syndrome
• p.Ile763= Multiple submitters hereditary neoplastic syndrome
• p.Leu164= Multiple submitters hereditary neoplastic syndrome
• p.Leu18= Multiple submitters hereditary neoplastic syndrome
• p.Leu180= Multiple submitters hereditary neoplastic syndrome
• p.Leu214= Multiple submitters hereditary neoplastic syndrome
• p.Leu229= Multiple submitters hereditary neoplastic syndrome
• p.Leu243= Multiple submitters hereditary neoplastic syndrome
• p.Leu29= Multiple submitters hereditary neoplastic syndrome
• p.Leu305= Multiple submitters hereditary neoplastic syndrome
• p.Leu378= Multiple submitters hereditary neoplastic syndrome
• p.Leu395= Multiple submitters hereditary neoplastic syndrome
• p.Leu402= Multiple submitters hereditary neoplastic syndrome
• p.Leu404= Multiple submitters hereditary neoplastic syndrome
• p.Leu479= Multiple submitters hereditary neoplastic syndrome
• p.Leu530= Multiple submitters hereditary neoplastic syndrome
• p.Leu538= Multiple submitters hereditary neoplastic syndrome
• p.Leu578= Multiple submitters hereditary neoplastic syndrome
• p.Leu630= Multiple submitters hereditary neoplastic syndrome
• p.Leu825= Multiple submitters hereditary neoplastic syndrome
• p.Leu854= Multiple submitters hereditary neoplastic syndrome
• p.Leu86= Multiple submitters hereditary neoplastic syndrome
• p.Leu90= Multiple submitters hereditary neoplastic syndrome
• p.Lys12= Multiple submitters hereditary neoplastic syndrome
• p.Lys193= Multiple submitters hereditary neoplastic syndrome
• p.Lys358= Multiple submitters hereditary neoplastic syndrome
• p.Lys704= Multiple submitters hereditary neoplastic syndrome
• p.Lys795= Multiple submitters hereditary neoplastic syndrome
• p.Lys797= Multiple submitters hereditary neoplastic syndrome
• p.Lys867= Multiple submitters hereditary neoplastic syndrome
• p.Phe423= Multiple submitters hereditary neoplastic syndrome
• p.Phe587= Multiple submitters hereditary neoplastic syndrome
• p.Phe691= Multiple submitters hereditary neoplastic syndrome
• p.Pro605= Multiple submitters hereditary neoplastic syndrome
• p.Pro635= Multiple submitters hereditary neoplastic syndrome
• p.Ser322= Multiple submitters hereditary neoplastic syndrome
• p.Ser323= Multiple submitters hereditary neoplastic syndrome
• p.Ser391= Multiple submitters hereditary neoplastic syndrome
• p.Ser44= Multiple submitters hereditary neoplastic syndrome
• p.Ser48= Multiple submitters hereditary neoplastic syndrome
• p.Ser668= Multiple submitters hereditary neoplastic syndrome
• p.Ser810= Multiple submitters hereditary neoplastic syndrome
• p.Ser886= Multiple submitters hereditary neoplastic syndrome
• p.Thr253= Multiple submitters hereditary neoplastic syndrome
• p.Thr262= Multiple submitters hereditary neoplastic syndrome
• p.Thr372= Multiple submitters hereditary neoplastic syndrome
• p.Thr557= Multiple submitters hereditary neoplastic syndrome
• p.Thr576= Multiple submitters hereditary neoplastic syndrome
• p.Thr588= Multiple submitters hereditary neoplastic syndrome
• p.Thr634= Multiple submitters hereditary neoplastic syndrome
• p.Thr878= Multiple submitters hereditary neoplastic syndrome
• p.Thr880= Multiple submitters hereditary neoplastic syndrome
• p.Tyr245= Multiple submitters hereditary neoplastic syndrome
• p.Tyr619= Multiple submitters hereditary neoplastic syndrome
• p.Val135= Multiple submitters hereditary neoplastic syndrome
• p.Val201= Multiple submitters hereditary neoplastic syndrome
• p.Val386= Multiple submitters hereditary neoplastic syndrome
• p.Val567= Multiple submitters hereditary neoplastic syndrome
• p.Val857= Multiple submitters hereditary neoplastic syndrome
• p.Val894= Multiple submitters hereditary neoplastic syndrome
• c.105+159G>A Single submitter hereditary neoplastic syndrome
• c.105+18_105+19del Single submitter
• c.105+18C>G Single submitter
• c.105+20_105+25del Single submitter
• c.105+8T>G Single submitter
• c.106-10A>G Single submitter
• c.106-12T>C Single submitter
• c.106-16A>C Single submitter
• c.106-252_106-6del Single submitter
• c.106-48_106-45del Single submitter
• c.1062+10A>G Single submitter
• c.1062+11C>T Single submitter
• c.1062+12A>G Single submitter
• c.1062+12dup Single submitter
• c.1062+13G>A Single submitter
• c.1062+13G>C Single submitter
• c.1062+14C>G Single submitter
• c.1062+16T>C Single submitter
• c.1062+16T>G Single submitter
• c.1062+18T>A Single submitter
• c.1062+18T>C Single submitter
• c.1062+19C>T Single submitter
• c.1062+22dup Single submitter
• c.1062+7T>G Single submitter
• c.1063-10466C>T Single submitter
• c.1063-10T>G Single submitter
• c.1063-14_1063-13del Single submitter
• c.1063-14_1063-7del Single submitter
• c.1063-19C>A Single submitter
• c.1063-4C>G Single submitter
• c.1063-7T>A Single submitter
• c.1143+13A>G Single submitter
• c.1143+15A>G Single submitter
• c.1143+17T>A Single submitter
• c.1143+18G>A Single submitter
• c.1143+19C>A Single submitter
• c.1143+19C>G Single submitter
• c.1143+20T>C Single submitter
• c.1143+42A>G Single submitter
• c.1143+6C>G Single submitter
• c.1144-10T>G Single submitter
• c.1144-12T>C Single submitter
• c.1144-14A>T Single submitter
• c.1144-15C>A Single submitter
• c.1144-16A>C Single submitter
• c.1144-18T>G Single submitter
• c.1144-20T>A Single submitter

Uncertain significance 1647

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

• c.105+4A>G Multiple submitters hereditary neoplastic syndrome
• c.1062+4A>G Multiple submitters hereditary neoplastic syndrome
• c.1062+5G>A Multiple submitters hereditary neoplastic syndrome
• c.1063-1G>A Multiple submitters hereditary neoplastic syndrome
• c.1063-3C>T Multiple submitters hereditary neoplastic syndrome
• c.1143+4del Multiple submitters hereditary neoplastic syndrome
• c.1144-13A>G Multiple submitters
• c.1296+3A>G Multiple submitters hereditary neoplastic syndrome
• c.1389+3A>G Multiple submitters hereditary neoplastic syndrome
• c.1389+4A>G Multiple submitters hereditary neoplastic syndrome
• c.1389+5del Multiple submitters hereditary neoplastic syndrome
• c.1546+4A>G Multiple submitters hereditary neoplastic syndrome
• c.1546+5T>C Multiple submitters hereditary neoplastic syndrome
• c.1547-3C>T Multiple submitters hereditary neoplastic syndrome
• c.1747+3A>G Multiple submitters hereditary neoplastic syndrome
• c.2298+2dup Multiple submitters hereditary neoplastic syndrome
• c.2433+3A>G Multiple submitters hereditary neoplastic syndrome
• c.2433+4A>G Multiple submitters patterned macular dystrophy 2
• c.301+4G>A Multiple submitters hereditary neoplastic syndrome
• c.302-3C>T Multiple submitters hereditary neoplastic syndrome
• c.468+4A>G Multiple submitters hereditary neoplastic syndrome
• c.469-2A>G Multiple submitters hereditary neoplastic syndrome
• c.588+4C>T Multiple submitters hereditary neoplastic syndrome
• c.859-3C>T Multiple submitters hereditary neoplastic syndrome
• p.Ala106Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala112Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala127Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala128Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala130Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala134Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala145Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala179Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala191Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala191Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala209Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala224Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala227Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala235Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala235Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala236Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala236Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala24Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala24Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala251Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala251Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala258Lys Multiple submitters hereditary neoplastic syndrome
• p.Ala258Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala259Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala261Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala267Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala281Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala316Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala317Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala335Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala343Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala343Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala355= Multiple submitters hereditary neoplastic syndrome
• p.Ala355Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala367Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala385Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala3Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala407Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala407Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala420Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala420Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala420Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala427Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala434Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala434Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala454Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala454Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala459Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala459Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala467Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala468Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala468Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala468Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala472Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala480Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala501Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala501Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala575Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala58Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala58Val Multiple submitters patterned macular dystrophy 2 ⚠
• p.Ala594Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala597Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala603Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala628Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala62Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala62Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala671Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala682Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala682Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala685Thr Multiple submitters ⚠
• p.Ala68Thr Multiple submitters patterned macular dystrophy 2 ⚠
• p.Ala745Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala784Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala80Gly Multiple submitters hereditary neoplastic syndrome
• p.Ala828Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala835Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala835Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala839Thr Multiple submitters ⚠
• p.Ala863Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala885Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala902fs Multiple submitters hereditary neoplastic syndrome
• p.Ala902Val Multiple submitters CTNNA1-related disorder ⚠
• p.Ala93Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala93Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg126Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg126Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg126Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg129Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg129Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg129Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg137Gln Multiple submitters patterned macular dystrophy 2 ⚠
• p.Arg204Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg204Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg211Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg21Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg241Lys Multiple submitters hereditary neoplastic syndrome
• p.Arg300Cys Multiple submitters hereditary nonpolyposis colon cancer
• p.Arg300His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg300Leu Multiple submitters hereditary neoplastic syndrome
• p.Arg308His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg326Cys Multiple submitters ⚠
• p.Arg326His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg329Cys Multiple submitters hereditary nonpolyposis colon cancer ⚠
• p.Arg329His Multiple submitters patterned macular dystrophy 2 ⚠
• p.Arg330Cys Multiple submitters patterned macular dystrophy 2 ⚠
• p.Arg330Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg330His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg332Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg332Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg332Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg341Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg357Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg357Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg360Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg376Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg379Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg379Gly Multiple submitters patterned macular dystrophy 2 ⚠
• p.Arg383Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg383His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg383Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg424Cys Multiple submitters hereditary neoplastic syndrome
• p.Arg424His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg496Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg52Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg52Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg540Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg540Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg546Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg548Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg548Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg54Cys Multiple submitters hereditary neoplastic syndrome
• p.Arg54Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg551Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg551Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg586Cys Multiple submitters patterned macular dystrophy 2
• p.Arg586His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg616Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg616His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg616Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg623Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg623Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg633Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg653Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg653Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg670Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg670Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg731Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg761Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg761His Multiple submitters hereditary neoplastic syndrome
• p.Arg782His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg872Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg872Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg884Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg884Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg884Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg98Gly Multiple submitters hereditary neoplastic syndrome
• p.Asn166Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn169His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn217His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn217Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn217Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn240Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn240Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn257Ile Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn257Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn283Ser Multiple submitters patterned macular dystrophy 2 ⚠
• p.Asn284Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn284Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn354Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn354Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn398His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn398Ile Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn410Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn412Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn428Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn443Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn443Ile Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn443Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn466Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn49Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn562Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn71Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn827Thr Multiple submitters hereditary neoplastic syndrome
• p.Asn853His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn853Ile Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn892Ile Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn8Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn8Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp113Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp143Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp172Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp185Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp200Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp205Asn Multiple submitters patterned macular dystrophy 2 ⚠
• p.Asp205Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp233Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp265Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp266Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp292Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp321Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp321Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp328His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp362Gly Multiple submitters hereditary nonpolyposis colon cancer ⚠
• p.Asp362Val Multiple submitters ⚠
• p.Asp369Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp377Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp377Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp388Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp388Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp485Tyr Multiple submitters hereditary neoplastic syndrome
• p.Asp503Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp510Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp522Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp539Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp539Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp561His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp601Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp613Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp613Glu Multiple submitters patterned macular dystrophy 2 ⚠
• p.Asp661Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp699Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp707Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp769Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp77Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp876fs Multiple submitters CTNNA1-related diffuse gastric and lobular breast cancer syndrome
• p.Asp904Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp904Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp96His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys116Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys116Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys324Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys438Tyr Multiple submitters patterned macular dystrophy 2 ⚠
• p.Cys461Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Cys526Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln100Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln153Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln153His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln153Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln153Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln171Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln171Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln195Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln195Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln196= Multiple submitters hereditary neoplastic syndrome
• p.Gln226Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln230Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln260Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln269Arg Multiple submitters ⚠
• p.Gln271Arg Multiple submitters patterned macular dystrophy 2 ⚠
• p.Gln271Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln288His Multiple submitters patterned macular dystrophy 2 ⚠
• p.Gln35Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln381= Multiple submitters hereditary neoplastic syndrome
• p.Gln476Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln490Leu Multiple submitters patterned macular dystrophy 2 ⚠
• p.Gln494Lys Multiple submitters patterned macular dystrophy 2 ⚠
• p.Gln531Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln604Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln604His Multiple submitters CTNNA1-related disorder ⚠
• p.Gln667Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln67= Multiple submitters hereditary neoplastic syndrome
• p.Gln678Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln67His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln774Glu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln774Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln820Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln847His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln84Arg Multiple submitters ⚠
• p.Gln84Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln879fs Multiple submitters hereditary neoplastic syndrome
• p.Gln887Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln887Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln895Arg Multiple submitters hereditary neoplastic syndrome
• p.Glu110Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu183Gly Multiple submitters hereditary neoplastic syndrome
• p.Glu197Lys Multiple submitters hereditary neoplastic syndrome ⚠