MSH6 — 8760 ClinVar variants

Pathogenic 1157

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

• c.3173-1_3173del Expert panel Lynch syndrome
• c.3173-433_3556+228del Expert panel Lynch syndrome
• c.3379_3438+5del Expert panel Lynch syndrome
• c.3438+797_3438+798insTATins1839_3438+797 Expert panel Lynch syndrome
• c.3557-?_(*93_? Expert panel Lynch syndrome
• c.3647-1G>A Expert panel Lynch syndrome
• c.3647-2A>C Expert panel Lynch syndrome
• c.3798_3801+26del Expert panel Lynch syndrome
• c.4001+2T>C Expert panel Lynch syndrome
• c.4002-31_4002-8inv Expert panel Lynch syndrome
• c.457+2T>A Expert panel Lynch syndrome
• c.458-?_627+?del Expert panel Lynch syndrome
• p.Ala1236delinsGluTer Expert panel Lynch syndrome
• p.Ala1320delinsSerLysGlyThrTer Expert panel Lynch syndrome
• p.Ala794fs Expert panel Lynch syndrome
• p.Arg1005Ter Expert panel Lynch syndrome
• p.Arg1035Ter Expert panel Lynch syndrome
• p.Arg1068Ter Expert panel Lynch syndrome
• p.Arg1331Ter Expert panel Lynch syndrome
• p.Arg1334Gln Expert panel Lynch syndrome ⚠
• p.Arg174fs Expert panel Lynch syndrome
• p.Arg240Ter Expert panel Lynch syndrome
• p.Arg248Ter Expert panel Lynch syndrome
• p.Arg298Ter Expert panel Lynch syndrome
• p.Arg482Ter Expert panel Lynch syndrome
• p.Arg495Ter Expert panel Lynch syndrome
• p.Arg732Ter Expert panel Lynch syndrome
• p.Arg772Trp Expert panel Lynch syndrome
• p.Arg911Ter Expert panel Lynch syndrome
• p.Arg922fs Expert panel Lynch syndrome
• p.Arg922Ter Expert panel Lynch syndrome
• p.Asn1039_Phe1040insTer Expert panel Lynch syndrome
• p.Asn1307Ter Expert panel Lynch syndrome
• p.Asp1107fs Expert panel Lynch syndrome
• p.Asp380fs Expert panel Lynch syndrome
• p.Cys687Ter Expert panel Lynch syndrome
• p.Gln1146Ter Expert panel Lynch syndrome
• p.Gln1258Ter Expert panel Lynch syndrome
• p.Gln1280Ter Expert panel Lynch syndrome
• p.Gln232Ter Expert panel Lynch syndrome
• p.Gln236Ter Expert panel Lynch syndrome
• p.Gln244Ter Expert panel Lynch syndrome
• p.Gln475fs Expert panel Lynch syndrome
• p.Gln731Ter Expert panel Lynch syndrome
• p.Gln835Ter Expert panel Lynch syndrome
• p.Gln939Ter Expert panel Lynch syndrome
• p.Glu1023Ter Expert panel Lynch syndrome
• p.Glu1052fs Expert panel Lynch syndrome
• p.Glu1119Ter Expert panel Lynch syndrome
• p.Glu1123Ter Expert panel Lynch syndrome
• p.Glu272Ter Expert panel Lynch syndrome
• p.Glu493Ter Expert panel Lynch syndrome
• p.Glu846Ter Expert panel Lynch syndrome
• p.Glu995fs Expert panel Lynch syndrome
• p.Glu995Ter Expert panel Lynch syndrome
• p.Gly237fs Expert panel Lynch syndrome
• p.His367Arg Expert panel Lynch syndrome 1
• p.Ile1115fs Expert panel Lynch syndrome
• p.Ile891fs Expert panel Lynch syndrome
• p.Leu1063Arg Expert panel Lynch syndrome 1
• p.Leu1211Pro Expert panel Lynch syndrome
• p.Leu449Pro Expert panel Lynch syndrome
• p.Leu540del Expert panel Lynch syndrome
• p.Leu595fs Expert panel Lynch syndrome
• p.Leu684_Gly685insTer Expert panel Lynch syndrome
• p.Leu905Ter Expert panel Lynch syndrome
• p.Lys218Ter Expert panel Lynch syndrome
• p.Lys247Ter Expert panel Lynch syndrome
• p.Lys543fs Expert panel Lynch syndrome
• p.Ser1067fs Expert panel Lynch syndrome
• p.Ser252Ter Expert panel Lynch syndrome
• p.Thr767Ile Expert panel Lynch syndrome 1
• p.Tyr214Ter Expert panel Lynch syndrome
• p.Tyr538_Leu539delinsTer Expert panel Lynch syndrome
• p.Val398Glu Expert panel Lynch syndrome
• p.Val480Glu Expert panel Lynch syndrome
• p.Val907fs Expert panel Lynch syndrome
• c.3173-14_3173-3del Multiple submitters hereditary neoplastic syndrome
• c.3439-2A>T Multiple submitters hereditary neoplastic syndrome
• c.458-?_3556+?del Multiple submitters Lynch syndrome
• p.Ala1151_Val1152insTer Multiple submitters hereditary neoplastic syndrome
• p.Ala1151fs Multiple submitters hereditary neoplastic syndrome
• p.Ala1204fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala1206fs Multiple submitters Lynch syndrome 5
• p.Ala1268fs Multiple submitters Lynch syndrome 5
• p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer Multiple submitters hereditary neoplastic syndrome
• p.Ala175fs Multiple submitters hereditary neoplastic syndrome
• p.Ala179fs Multiple submitters Lynch syndrome 5
• p.Ala326fs Multiple submitters hereditary neoplastic syndrome
• p.Ala35fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala40fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala683fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala780fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala83fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala861fs Multiple submitters Lynch syndrome 5
• p.Ala915fs Multiple submitters hereditary neoplastic syndrome
• p.Ala921fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala98fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1076fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1145fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1145Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg1172delinsSerValTyrTer Multiple submitters hereditary neoplastic syndrome
• p.Arg1176Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1182fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1318Ter Multiple submitters Lynch syndrome 5
• p.Arg240fs Multiple submitters Lynch syndrome 5
• p.Arg248fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Arg338Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg378fs Multiple submitters hereditary neoplastic syndrome
• p.Arg379_Asp380insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg379Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg385fs Multiple submitters Lynch syndrome 5
• p.Arg411fs Multiple submitters Lynch syndrome 5
• p.Arg507fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Arg721Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg761fs Multiple submitters hereditary neoplastic syndrome
• p.Arg911fs Multiple submitters Inherited MMR deficiency (Lynch syndrome)
• p.Arg965Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg974fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg988fs Multiple submitters Lynch syndrome 5
• p.Asn1020fs Multiple submitters hereditary neoplastic syndrome
• p.Asn1039fs Multiple submitters mismatch repair cancer syndrome 3
• p.Asn1065fs Multiple submitters hereditary neoplastic syndrome
• p.Asn1136fs Multiple submitters Lynch syndrome 5
• p.Asn1259fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asn345fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asn534fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asn910fs Multiple submitters Lynch syndrome 5
• p.Asn989fs Multiple submitters MSH6-related disorder
• p.Asp1046fs Multiple submitters Lynch syndrome 5
• p.Asp1112delinsGluTer Multiple submitters hereditary nonpolyposis colon cancer
• p.Asp1112fs Multiple submitters Lynch syndrome 5
• p.Asp1171_Arg1172insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp1171fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp1255fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp135Ter Multiple submitters Lynch syndrome 5
• p.Asp217fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp253fs Multiple submitters hereditary neoplastic syndrome
• p.Asp257fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp390fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp392fs Multiple submitters hereditary neoplastic syndrome
• p.Asp439fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp506fs Multiple submitters hereditary neoplastic syndrome
• p.Asp697fs Multiple submitters hereditary neoplastic syndrome
• p.Asp713fs Multiple submitters hereditary neoplastic syndrome
• p.Asp904_Leu905insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp913fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp917fs Multiple submitters Lynch syndrome 5
• p.Asp934_Ser935insTer Multiple submitters hereditary neoplastic syndrome
• p.Asp934Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp936fs Multiple submitters hereditary neoplastic syndrome
• p.Asp936Ter Multiple submitters hereditary nonpolyposis colon cancer
• p.Asp943_Ile944insTer Multiple submitters Lynch syndrome 5
• p.Cys1053fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys1053Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys1075fs Multiple submitters hereditary neoplastic syndrome
• p.Cys1098Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys1158_Tyr1159insTer Multiple submitters hereditary nonpolyposis colon cancer
• p.Cys1241fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys1241Ter Multiple submitters hereditary neoplastic syndrome
• p.Cys1269Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys196fs Multiple submitters hereditary neoplastic syndrome
• p.Cys615fs Multiple submitters MSH6-related disorder
• p.Cys779fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys779Ter Multiple submitters Lynch syndrome 5
• p.Cys869fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys88_Asp89delinsTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys88fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln1048Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln1122Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln1314fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln1314Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln1328Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln132fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln132Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln160Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln177Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln232fs Multiple submitters hereditary neoplastic syndrome
• p.Gln325Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln344Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln415Ter Multiple submitters Lynch syndrome
• p.Gln419Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln475Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln522Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln572Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln657fs Multiple submitters hereditary neoplastic syndrome
• p.Gln889fs Multiple submitters hereditary neoplastic syndrome
• p.Gln894Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln958fs Multiple submitters Lynch syndrome 5
• p.Gln978Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1022Ter Multiple submitters Lynch syndrome 5
• p.Glu1118_Glu1119insAspPhePheTrpArgTer Multiple submitters hereditary neoplastic syndrome
• p.Glu1119fs Multiple submitters hereditary neoplastic syndrome
• p.Glu1120Ter Multiple submitters Lynch syndrome 5
• p.Glu1121Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1163Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1196Ter Multiple submitters Lynch syndrome 5
• p.Glu1234fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1234Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1237fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1274delinsLysTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1281fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1322Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu158fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu171Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu201fs Multiple submitters Lynch syndrome 5
• p.Glu221fs Multiple submitters Lynch syndrome 5
• p.Glu226_Ser227insTer Multiple submitters Lynch syndrome 5
• p.Glu255Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu277fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu277Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu286_Ser287insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu347Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu368Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu400Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu446Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu463Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu487Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu490Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu528Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu604Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu640Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu641Ter Multiple submitters hereditary nonpolyposis colon cancer
• p.Glu665fs Multiple submitters hereditary neoplastic syndrome
• p.Glu675fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu708Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu796Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu810fs Multiple submitters Lynch syndrome 5
• p.Glu847Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu946fs Multiple submitters hereditary neoplastic syndrome
• p.Glu980fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1070_Asp1071insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1070fs Multiple submitters hereditary neoplastic syndrome
• p.Gly1093Ter Multiple submitters mismatch repair cancer syndrome 3
• p.Gly1105fs Multiple submitters MSH6-related disorder
• p.Gly1134fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1139fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1148fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1178fs Multiple submitters hereditary neoplastic syndrome
• p.Gly1216delinsValTrpMetAsnTer Multiple submitters Lynch syndrome 5
• p.Gly1218fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1265Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly141fs Multiple submitters Lynch syndrome 5
• p.Gly162fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly211fs Multiple submitters hereditary neoplastic syndrome
• p.Gly260fs Multiple submitters hereditary neoplastic syndrome
• p.Gly273Ter Multiple submitters Lynch syndrome 5
• p.Gly283fs Multiple submitters hereditary neoplastic syndrome
• p.Gly289_Leu290insTer Multiple submitters hereditary neoplastic syndrome
• p.Gly45fs Multiple submitters hereditary neoplastic syndrome
• p.Gly520fs Multiple submitters Lynch syndrome 5
• p.Gly566fs Multiple submitters hereditary neoplastic syndrome
• p.Gly56fs Multiple submitters hereditary neoplastic syndrome
• p.Gly599Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly624fs Multiple submitters hereditary neoplastic syndrome
• p.Gly74Ter Multiple submitters mismatch repair cancer syndrome 3
• p.Gly873fs Multiple submitters hereditary neoplastic syndrome
• p.Gly881fs Multiple submitters hereditary neoplastic syndrome
• p.Gly900fs Multiple submitters hereditary neoplastic syndrome
• p.Gly925fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly925Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly963fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly973fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His1203fs Multiple submitters Lynch syndrome 5
• p.His1248_Ser1251delinsAsnGluTrpTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His1250fs Multiple submitters hereditary neoplastic syndrome
• p.His367fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His388delinsArgAsnPheArgMetAlaTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His388fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His437fs Multiple submitters Lynch syndrome 5
• p.His458delinsArgTyrSerTer Multiple submitters hereditary neoplastic syndrome
• p.His501fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His588fs Multiple submitters Lynch syndrome 5
• p.His766fs Multiple submitters Lynch syndrome 5
• p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer Multiple submitters hereditary neoplastic syndrome
• p.His826fs Multiple submitters hereditary neoplastic syndrome
• p.Ile1019fs Multiple submitters hereditary neoplastic syndrome
• p.Ile1283fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ile425fs Multiple submitters hereditary neoplastic syndrome
• p.Ile696fs Multiple submitters hereditary neoplastic syndrome
• p.Ile805fs Multiple submitters Lynch syndrome 5
• p.Ile843_Met844insTer Multiple submitters hereditary neoplastic syndrome
• p.Ile944fs Multiple submitters hereditary neoplastic syndrome
• p.Ile967fs Multiple submitters Lynch syndrome 5
• p.Ile981fs Multiple submitters hereditary neoplastic syndrome
• p.Leu1089Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu1149Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu1194Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu1264fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu1286fs Multiple submitters Lynch syndrome 5
• p.Leu1330delinsIleTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu148Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu447fs Multiple submitters hereditary neoplastic syndrome
• p.Leu449fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu473fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu540fs Multiple submitters hereditary neoplastic syndrome
• p.Leu609_Lys610insAlaIleLeuValHisMetValCysAlaLeuLeuIleLeuHisTrpGluSerPheSerTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu634fs Multiple submitters hereditary neoplastic syndrome
• p.Leu634Ter Multiple submitters Lynch syndrome
• p.Leu637fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms

Pathogenic/Likely pathogenic 222

• c.261-1G>A Multiple submitters hereditary neoplastic syndrome
• c.261-1G>C Multiple submitters hereditary nonpolyposis colon cancer
• c.261-2A>C Multiple submitters Lynch syndrome 5
• c.3172+1G>A Multiple submitters hereditary neoplastic syndrome
• c.3172+2del Multiple submitters hereditary neoplastic syndrome
• c.3172+2T>G Multiple submitters hereditary neoplastic syndrome
• c.3173-1G>A Multiple submitters hereditary neoplastic syndrome
• c.3173-1G>C Multiple submitters hereditary nonpolyposis colon cancer
• c.3173-1G>T Multiple submitters hereditary neoplastic syndrome
• c.3173-2A>C Multiple submitters hereditary neoplastic syndrome
• c.3173-3C>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3438+2T>G Multiple submitters endometrial carcinoma
• c.3554_3556+2del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3556+1del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3556+1G>A Multiple submitters Lynch syndrome 5
• c.3556+1G>T Multiple submitters Lynch syndrome
• c.3556+2_3556+3insTT Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3556+2T>C Multiple submitters hereditary neoplastic syndrome
• c.3556+2T>G Multiple submitters Lynch syndrome
• c.3556+3_3556+13del Multiple submitters hereditary neoplastic syndrome
• c.3556+4_3556+8del Multiple submitters hereditary neoplastic syndrome
• c.3557-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3557-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3646+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3646+1G>T Multiple submitters hereditary neoplastic syndrome
• c.3646+2_3646+3insCT Multiple submitters Lynch syndrome
• c.3646+2T>C Multiple submitters hereditary neoplastic syndrome
• c.3646+2T>G Multiple submitters hereditary neoplastic syndrome
• c.3647-1G>C Multiple submitters hereditary neoplastic syndrome
• c.3647delG Multiple submitters hereditary nonpolyposis colon cancer
• c.3798_3801+9del Multiple submitters Lynch syndrome 5
• c.3801+1_3801+5del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3802-1G>C Multiple submitters hereditary neoplastic syndrome
• c.3802-2A>G Multiple submitters Lynch syndrome 5
• c.3802-7_3802-4del Multiple submitters Lynch syndrome 5
• c.4001+1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.4001+1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.4001+2T>A Multiple submitters hereditary neoplastic syndrome
• c.628-1G>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.628-2A>C Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.628-2A>G Multiple submitters hereditary neoplastic syndrome
• c.628-2A>T Multiple submitters hereditary neoplastic syndrome
• p.Ala1055fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Ala1162del Multiple submitters Inherited MMR deficiency (Lynch syndrome)
• p.Ala1320delinsGlyThrTer Multiple submitters MSH6-related disorder
• p.Ala20fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala683_Leu684insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ala931fs Multiple submitters hereditary neoplastic syndrome
• p.Arg1076Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1172Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg1242His Multiple submitters hereditary nonpolyposis colon cancer
• p.Arg1321fs Multiple submitters hereditary neoplastic syndrome
• p.Arg1334fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg1334Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg378_Arg379insTer Multiple submitters hereditary neoplastic syndrome
• p.Arg3Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg577fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg58fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Arg62fs Multiple submitters hereditary neoplastic syndrome
• p.Asn1273fs Multiple submitters endometrial carcinoma
• p.Asn1307fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asn1327delinsLysAsnLeuArgArgTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asn784fs Multiple submitters hereditary neoplastic syndrome
• p.Asp439Gly Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Asp713_Ser714insTer Multiple submitters Lynch syndrome 5
• p.Cys687fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Cys694Arg Multiple submitters Lynch syndrome 5
• p.Cys765Ter Multiple submitters Lynch syndrome 5
• p.Gln1122fs Multiple submitters Lynch syndrome
• p.Gln1155Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln1258fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Gln1280fs Multiple submitters mismatch repair cancer syndrome 3
• p.Gln349Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln419fs Multiple submitters hereditary neoplastic syndrome
• p.Gln485Ter Multiple submitters mismatch repair cancer syndrome 3
• p.Gln4Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln593Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln618Ter Multiple submitters hereditary neoplastic syndrome
• p.Gln626Ter Multiple submitters Lynch syndrome 1
• p.Gln657Ter Multiple submitters Lynch syndrome
• p.Gln698Ter Multiple submitters hereditary nonpolyposis colon cancer
• p.Gln835fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gln889Ter Multiple submitters Lynch syndrome
• p.Gln949Ter Multiple submitters Lynch syndrome 5
• p.Gln958Ter Multiple submitters hereditary nonpolyposis colon cancer
• p.Glu1052Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1083Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1119_Glu1120delinsGlyTer Multiple submitters hereditary neoplastic syndrome
• p.Glu1123fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1193fs Multiple submitters endometrial carcinoma
• p.Glu1193Lys Multiple submitters Lynch syndrome
• p.Glu1193Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1214Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu1272fs Multiple submitters hereditary neoplastic syndrome
• p.Glu1274Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1276Ter Multiple submitters Lynch syndrome 5
• p.Glu1310fs Multiple submitters hereditary neoplastic syndrome
• p.Glu1311Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu1324fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu226fs Multiple submitters Lynch syndrome
• p.Glu226Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu230fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu255_Ser256insTer Multiple submitters hereditary neoplastic syndrome
• p.Glu286Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu347fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu52Ter Multiple submitters Lynch syndrome 5
• p.Glu645fs Multiple submitters Lynch syndrome 5
• p.Glu645Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu665_Ser666insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu665Ter Multiple submitters MSH6-related disorder
• p.Glu807Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu819Ter Multiple submitters Inherited MMR deficiency (Lynch syndrome)
• p.Glu876Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Glu980Ter Multiple submitters hereditary nonpolyposis colon cancer
• p.Glu992Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu993Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly1072fs Multiple submitters hereditary neoplastic syndrome
• p.Gly1157Asp Multiple submitters Lynch syndrome 5
• p.Gly1157Cys Multiple submitters hereditary nonpolyposis colon cancer
• p.Gly1216Ter Multiple submitters Lynch syndrome
• p.Gly1265fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1316Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly153Ser Multiple submitters hereditary neoplastic syndrome
• p.Gly259fs Multiple submitters Lynch syndrome
• p.Gly46fs Multiple submitters endometrial carcinoma
• p.Gly566Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly670_Leu671insTer Multiple submitters endometrial carcinoma
• p.Gly686fs Multiple submitters hereditary nonpolyposis colon cancer
• p.His113fs Multiple submitters hereditary neoplastic syndrome
• p.His1207fs Multiple submitters hereditary neoplastic syndrome
• p.His1248_Ser1257del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.His1317fs Multiple submitters hereditary neoplastic syndrome
• p.His1317Ter Multiple submitters Lynch syndrome 5
• p.Ile120fs Multiple submitters hereditary neoplastic syndrome
• p.Ile1239fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Ile464fs Multiple submitters hereditary neoplastic syndrome
• p.Ile927fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu1057Ter Multiple submitters endometrial carcinoma
• p.Leu1080fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu1150Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu1177fs Multiple submitters mismatch repair cancer syndrome 3
• p.Leu1235fs Multiple submitters mismatch repair cancer syndrome 3
• p.Leu1264Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu1305fs Multiple submitters hereditary neoplastic syndrome
• p.Leu1330fs Multiple submitters mismatch repair cancer syndrome 3
• p.Leu148fs Multiple submitters endometrial carcinoma
• p.Leu193fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Leu337fs Multiple submitters endometrial carcinoma
• p.Leu370fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Leu370Ser Multiple submitters hereditary nonpolyposis colon cancer ⚠
• p.Leu423fs Multiple submitters hereditary neoplastic syndrome
• p.Leu435Pro Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu585fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Leu595Ter Multiple submitters endometrial carcinoma
• p.Leu893fs Multiple submitters Inherited MMR deficiency (Lynch syndrome)
• p.Lys1014del Multiple submitters mismatch repair cancer syndrome 3
• p.Lys1014fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Lys1030Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys1042Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys1140fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Lys1288fs Multiple submitters hereditary neoplastic syndrome
• p.Lys1291delinsHisTer Multiple submitters hereditary neoplastic syndrome
• p.Lys1315fs Multiple submitters Lynch syndrome
• p.Lys1325Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Lys301fs Multiple submitters hereditary neoplastic syndrome
• p.Lys301Ter Multiple submitters endometrial carcinoma
• p.Lys453Ter Multiple submitters hereditary nonpolyposis colon cancer
• p.Lys543Ter Multiple submitters hereditary neoplastic syndrome
• p.Lys545fs Multiple submitters MSH6-related disorder
• p.Lys606fs Multiple submitters Lynch syndrome
• p.Lys813fs Multiple submitters hereditary neoplastic syndrome
• p.Lys896fs Multiple submitters hereditary neoplastic syndrome
• p.Lys920fs Multiple submitters Lynch syndrome
• p.Lys997fs Multiple submitters Lynch syndrome 5
• p.Met844_Tyr845insTer Multiple submitters Lynch syndrome 5
• p.Met868fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Phe1222fs Multiple submitters Lynch syndrome
• p.Phe432Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Phe451fs Multiple submitters hereditary neoplastic syndrome
• p.Phe569fs Multiple submitters MSH6-related disorder
• p.Pro233_Lys234insTer Multiple submitters Lynch syndrome 5
• p.Pro293fs Multiple submitters Lynch syndrome 5
• p.Pro591fs Multiple submitters hereditary nonpolyposis colon cancer
• p.Pro623fs Multiple submitters Lynch syndrome 5
• p.Pro768del Multiple submitters hereditary neoplastic syndrome
• p.Pro781Leu Multiple submitters hereditary nonpolyposis colon cancer
• p.Pro781Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Pro982fs Multiple submitters hereditary neoplastic syndrome
• p.Ser1028fs Multiple submitters hereditary neoplastic syndrome
• p.Ser1329Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser330Ter Multiple submitters mismatch repair cancer syndrome 3
• p.Ser574Ter Multiple submitters hereditary neoplastic syndrome
• p.Ser851fs Multiple submitters Lynch syndrome 5
• p.Thr1205fs Multiple submitters endometrial carcinoma
• p.Thr213_Tyr214insTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Thr216fs Multiple submitters hereditary neoplastic syndrome
• p.Thr333fs Multiple submitters Lynch syndrome
• p.Thr607fs Multiple submitters hereditary neoplastic syndrome
• p.Thr663_Ser664insTer Multiple submitters Lynch syndrome 5
• p.Thr754fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Thr757fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Trp1007Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Trp372Ter Multiple submitters hereditary neoplastic syndrome
• p.Trp413Cys Multiple submitters hereditary neoplastic syndrome
• p.Trp970Ter Multiple submitters colorectal cancer
• p.Tyr1006Ter Multiple submitters Lynch syndrome 5
• p.Tyr1066_Ser1067delinsTer Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Tyr1159_Val1160insTer Multiple submitters hereditary neoplastic syndrome
• p.Tyr1159Ter Multiple submitters MSH6-related disorder
• p.Tyr1287fs Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Tyr433Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Tyr505Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Tyr524_Ser525delinsTer Multiple submitters MSH6-related disorder
• p.Tyr524fs Multiple submitters Lynch syndrome 5
• p.Tyr524Ter Multiple submitters Lynch syndrome
• p.Tyr709Ter Multiple submitters hereditary neoplastic syndrome
• p.Tyr8Ter Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Tyr937Ter Multiple submitters Lynch syndrome 5
• p.Tyr994Ter Multiple submitters Lynch syndrome
• p.Val1051_Glu1052insTer Multiple submitters Lynch syndrome 5
• p.Val1253fs Multiple submitters mismatch repair cancer syndrome 3
• p.Val231fs Multiple submitters Lynch syndrome 5

Likely pathogenic 178

• c.3172+1G>T Expert panel Lynch syndrome
• c.3438+1G>A Expert panel Lynch syndrome
• c.3439-1G>T Expert panel Lynch syndrome
• c.3439-2A>G Expert panel Lynch syndrome
• c.3646_3646+3del Expert panel Lynch syndrome
• c.3647-6_3647-1del Expert panel Lynch syndrome
• c.458-1G>A Expert panel Lynch syndrome
• p.Ala1055Pro Expert panel Lynch syndrome
• p.Arg1076Cys Expert panel Lynch syndrome 1
• p.Arg1242del Expert panel Lynch syndrome
• p.Arg482Pro Expert panel Lynch syndrome 1
• p.Asp1058His Expert panel Lynch syndrome
• p.Gly686Asp Expert panel Lynch syndrome
• p.Ile745Asn Expert panel Lynch syndrome 1
• p.Met1Ile Expert panel Lynch syndrome
• p.Phe706Ser Expert panel Lynch syndrome
• p.Ser418Pro Expert panel Lynch syndrome
• p.Ser541Arg Expert panel Lynch syndrome
• p.Tyr969Cys Expert panel Lynch syndrome 1
• c.260+1G>C Multiple submitters hereditary neoplastic syndrome
• c.3172+1G>C Multiple submitters hereditary neoplastic syndrome
• c.3173-1del Multiple submitters hereditary neoplastic syndrome
• c.3557-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3646+1dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3646+2del Multiple submitters hereditary neoplastic syndrome
• c.3801+1del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3801+1G>A Multiple submitters hereditary neoplastic syndrome
• c.3801+1G>T Multiple submitters hereditary neoplastic syndrome
• c.3801+2T>C Multiple submitters hereditary neoplastic syndrome
• c.3801+2T>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3802-14_3809del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.3802-15_3802delinsAAGCTAATAGCA Multiple submitters Lynch syndrome 5
• c.3802-1G>A Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.4002-2A>G Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.457+1del Multiple submitters hereditary neoplastic syndrome
• c.458-1G>T Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.627+1dup Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.627+1G>A Multiple submitters hereditary neoplastic syndrome
• p.Ala1198Pro Multiple submitters hereditary neoplastic syndrome
• p.Arg1318fs Multiple submitters Lynch syndrome 5
• p.Arg1334Leu Multiple submitters Lynch syndrome 5
• p.Gln1155Arg Multiple submitters hereditary neoplastic syndrome
• p.Glu1234_Leu1235dup Multiple submitters hereditary neoplastic syndrome
• p.Gly1139Val Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Gly1157Ser Multiple submitters Lynch syndrome 5
• p.Leu743_Glu744delinsPheTer Multiple submitters Lynch syndrome 5
• p.Met1144Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Phe432Leu Multiple submitters hereditary neoplastic syndrome
• p.Trp413Arg Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Trp413Ser Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• p.Val1232del Multiple submitters Hereditary nonpolyposis colorectal neoplasms
• c.1826_1827insALU Single submitter hereditary neoplastic syndrome
• c.1972_3439-358del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.261-1G>T Single submitter hereditary neoplastic syndrome
• c.261-2A>G Single submitter hereditary neoplastic syndrome
• c.261-2A>T Single submitter Lynch syndrome 5
• c.261-2del Single submitter hereditary neoplastic syndrome
• c.3311_3312insSVA Single submitter hereditary neoplastic syndrome
• c.3431_3438+107del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3438+1G>C Single submitter Lynch syndrome 5
• c.3438+1G>T Single submitter Lynch syndrome 5
• c.3438+2T>A Single submitter Lynch syndrome 5
• c.3510_3511insALU Single submitter hereditary neoplastic syndrome
• c.3556+171G>C Single submitter hereditary neoplastic syndrome
• c.3556+2dup Single submitter hereditary neoplastic syndrome
• c.3556+3_3556+6del Single submitter hereditary neoplastic syndrome
• c.3557-2A>C Single submitter hereditary neoplastic syndrome
• c.3557-2A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3557-2A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3629_3646+97delinsAGCACCTGTGTTCCCATGAGGCCAGCGTGGGCCATGCATGGCTTCAAAAGGCCCTCGAGGCTTGACTAAGTGCGCCAGTTTCATTCTGAACATGCTGCTCTAAAACAC Single submitter hereditary neoplastic syndrome
• c.3644_3646+5del Single submitter Lynch syndrome 5
• c.3645_3646+3delinsCGTT Single submitter Lynch syndrome 5
• c.3646+1del Single submitter hereditary neoplastic syndrome
• c.3646+2_3646+3insTC Single submitter hereditary neoplastic syndrome
• c.3647-2A>G Single submitter Lynch syndrome 5
• c.3647-37_3684del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3791_3801+25del Single submitter hereditary neoplastic syndrome
• c.3798_3801+3delinsAAT Single submitter hereditary neoplastic syndrome
• c.3801_3801+12del Single submitter
• c.3801+1_3801+2insGTAT Single submitter Lynch syndrome
• c.3802-1G>T Single submitter hereditary nonpolyposis colon cancer
• c.3992_4001+4del Single submitter hereditary neoplastic syndrome
• c.4000_4001+20del Single submitter hereditary neoplastic syndrome
• c.4001+1_4001+25del Single submitter hereditary neoplastic syndrome
• c.4001+1G>T Single submitter hereditary neoplastic syndrome
• c.4001+4A>G Single submitter hereditary neoplastic syndrome
• c.4002-11_4002-10insAATTTTAAGT Single submitter hereditary breast ovarian cancer syndrome
• c.4002-11_4002-10insAATTTTAGT Single submitter hereditary breast ovarian cancer syndrome
• c.4002-1G>A Single submitter hereditary neoplastic syndrome
• c.457+1G>A Single submitter Lynch syndrome 5
• c.457+1G>T Single submitter hereditary neoplastic syndrome
• c.457+2T>G Single submitter Lynch syndrome 5
• c.457+33_457+34insGTGT Single submitter Lynch syndrome 5
• c.458_4083del Single submitter Lynch syndrome
• c.458-2A>C Single submitter Lynch syndrome 5
• c.458-2A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-2A>T Single submitter hereditary neoplastic syndrome
• c.616_627+37delinsC Single submitter Lynch syndrome 5
• c.619_627+320delinsAT Single submitter hereditary neoplastic syndrome
• c.627+2_627+11del Single submitter Lynch syndrome 5
• c.628-1G>A Single submitter hereditary neoplastic syndrome
• c.628-703_671del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.*15A>C Single submitter hereditary breast carcinoma
• p.Ala1151Asp Single submitter hereditary neoplastic syndrome
• p.Ala1320fs Single submitter hereditary neoplastic syndrome
• p.Ala729fs Single submitter Lynch syndrome 5
• p.Arg1242Gly Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Arg1321Ter Single submitter hereditary nonpolyposis colon cancer
• p.Arg1334delinsLeuTer Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Arg772Leu Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Asn1136Lys Single submitter Lynch syndrome 5
• p.Asn1229fs Single submitter mismatch repair cancer syndrome 1
• p.Asn1301delinsThrTer Single submitter Lynch syndrome
• p.Asn404fs Single submitter endometrial carcinoma
• p.Asp1058Tyr Single submitter hereditary neoplastic syndrome
• p.Asp1277delinsGluLysTer Single submitter Lynch syndrome
• p.Asp575fs Single submitter MSH6-related disorder
• p.Asp904fs Single submitter Lynch syndrome
• p.Cys1269fs Single submitter Lynch syndrome
• p.Gln1146His Single submitter hereditary neoplastic syndrome
• p.Gln1328fs Single submitter hereditary neoplastic syndrome
• p.Glu1193Val Single submitter hereditary neoplastic syndrome
• p.Glu122Ter Single submitter endometrial carcinoma
• p.Glu207Ter Single submitter Lynch syndrome 1
• p.Glu230Ter Single submitter endometrial carcinoma
• p.Glu993fs Single submitter Lynch syndrome 5
• p.Gly102fs Single submitter Lynch syndrome
• p.Gly1157Arg Single submitter hereditary neoplastic syndrome
• p.Gly454fs Single submitter endometrial carcinoma
• p.Gly599fs Single submitter Lynch syndrome 5
• p.Gly770Arg Single submitter hereditary neoplastic syndrome
• p.Ile1283_Thr1284insTer Single submitter endometrial carcinoma
• p.Ile1313_Gln1314insTer Single submitter Breast and/or ovarian cancer
• p.Ile871fs Single submitter Lynch syndrome
• p.Ile967Lys Single submitter Lynch syndrome 5
• p.Leu1036fs Single submitter Lynch syndrome
• p.Leu1057_Asp1058insTer Single submitter endometrial carcinoma
• p.Leu1211Arg Single submitter hereditary neoplastic syndrome
• p.Leu1211Phe Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Leu435_Tyr436delinsHis Single submitter hereditary neoplastic syndrome
• p.Leu778Pro Single submitter hereditary neoplastic syndrome
• p.Leu798del Single submitter hereditary neoplastic syndrome
• p.Lys1030fs Single submitter endometrial carcinoma
• p.Lys1296fs Single submitter Lynch syndrome 5
• p.Lys295fs Single submitter endometrial carcinoma
• p.Lys313fs Single submitter
• p.Lys498Ter Single submitter MSH6-related disorder
• p.Lys632fs Single submitter hereditary neoplastic syndrome
• p.Lys646fs Single submitter endometrial carcinoma
• p.Lys853Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Lys883Ter Single submitter endometrial carcinoma
• p.Met1144fs Single submitter Lynch syndrome
• p.Met662fs Single submitter MSH6-related disorder
• p.Met799fs Single submitter
• p.Phe1245Ter Single submitter
• p.Phe432Tyr Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Pro590_Pro591insHisTyrPro Single submitter
• p.Ser1329_Leu1330insGlnGluAsnLeuArgArgTer Single submitter Lynch syndrome 5
• p.Ser2Ter Single submitter hereditary neoplastic syndrome
• p.Ser625fs Single submitter Lynch syndrome
• p.Thr1085fs Single submitter hereditary nonpolyposis colon cancer
• p.Thr518fs Single submitter endometrial carcinoma
• p.Thr767Pro Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Thr895fs Single submitter Lynch syndrome 5
• p.Trp413Gly Single submitter Lynch syndrome
• p.Trp413Leu Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Tyr505fs Single submitter hereditary neoplastic syndrome
• p.Tyr969His Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Val1152_Ala1162del Single submitter Lynch syndrome 5
• c.3557-3_3573del No assertion criteria colon carcinoma
• p.Asn897_Pro898insTer No assertion criteria Lynch syndrome 5
• p.Asp19fs No assertion criteria Lynch syndrome 5
• p.Glu192_Ala194del No assertion criteria ovarian neoplasm
• p.Gly1139del No assertion criteria Lynch syndrome 5
• p.Gly652fs No assertion criteria endometrial carcinoma
• p.Gly770Cys No assertion criteria Lynch syndrome 1
• p.His458Asn No assertion criteria Lynch-like syndrome
• p.Pro66fs No assertion criteria MSH6-related disorder

Conflicting classifications of pathogenicity 1131

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

• c.261-3C>T Single submitter hereditary neoplastic syndrome
• c.261-5A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.261-6C>G Single submitter Lynch syndrome 5
• c.3172+7del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3172+9_3172+10insGTTC Single submitter Lynch syndrome 5
• c.3173-10_3173-6del Single submitter hereditary nonpolyposis colon cancer
• c.3173-10C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3173-12C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3173-16_3173-5del Single submitter hereditary breast carcinoma
• c.3173-4A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3173-6T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3173-9T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3438+10del Single submitter Lynch syndrome 5
• c.3438+2T>C Single submitter Lynch syndrome ⚠
• c.3438+3A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3438+5C>A Single submitter hereditary neoplastic syndrome
• c.3438+5C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3438+8dup Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3439-10T>A Single submitter Lynch syndrome
• c.3439-5C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3439-7T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3556+3_3556+6dup Single submitter hereditary neoplastic syndrome
• c.3556+3G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3556+3G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3556+6T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3557-10T>G Single submitter hereditary neoplastic syndrome
• c.3557-2del Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• c.3557-4T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3557-7_3557-4del Single submitter mismatch repair cancer syndrome 3
• c.3557-8_3557-4del Single submitter hereditary neoplastic syndrome
• c.3646+9T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3647-11_3647-6del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3647-11T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3647-3C>T Single submitter hereditary neoplastic syndrome
• c.3647-4A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3647-6T>A Single submitter hereditary neoplastic syndrome
• c.3647-7T>G Single submitter hereditary neoplastic syndrome
• c.3647-9_3647-5del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3647-9C>T Single submitter hereditary neoplastic syndrome
• c.3801+3A>G Single submitter hereditary neoplastic syndrome
• c.3801+4T>C Single submitter Lynch syndrome
• c.3801+4T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3801+5G>A Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3801+6T>C Single submitter hereditary neoplastic syndrome
• c.3802-18_3802-16dup Single submitter Lynch syndrome 5
• c.3802-18A>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3802-19_3802-16dup Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3802-6_3802-4del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3802-8_3802-4dup Single submitter Lynch syndrome 5
• c.3802-8T>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.3969_4001+52dup Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4000_4001+17dup Single submitter Lynch syndrome
• c.4001+15_4001+35dup Single submitter hereditary neoplastic syndrome
• c.4001+3A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4001+5_4001+62dup Single submitter hereditary neoplastic syndrome
• c.4001+5C>G Single submitter hereditary neoplastic syndrome
• c.4001+5C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-10_4002-9insTA Single submitter mismatch repair cancer syndrome 3
• c.4002-10T>A Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-10T>G Single submitter mismatch repair cancer syndrome 3
• c.4002-11_4002-10del Single submitter Breast and/or ovarian cancer
• c.4002-13_4002-10del Single submitter Breast and/or ovarian cancer
• c.4002-22_4002-10delinsAAGGG Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-24_4002-10del Single submitter hereditary neoplastic syndrome
• c.4002-3A>C Single submitter Lynch syndrome 5
• c.4002-4dup Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-4T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-6_4002-1del Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• c.4002-7_4002-3del Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-8_4002-5dup Single submitter hereditary neoplastic syndrome
• c.4002-8A>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-8dup Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.4002-9_4002-7del Single submitter Lynch syndrome 5
• c.4083_*1insCTAT Single submitter Lynch syndrome 5
• c.457+2dup Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• c.457+31T>G Single submitter hereditary neoplastic syndrome
• c.457+3A>G Single submitter Lynch syndrome
• c.457+6A>T Single submitter Lynch syndrome 5
• c.457+7G>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-13C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-14_458-11del Single submitter Lynch syndrome 5
• c.458-17A>G Single submitter hereditary neoplastic syndrome
• c.458-3T>C Single submitter Lynch syndrome 5
• c.458-4C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-4C>T Single submitter hereditary neoplastic syndrome
• c.458-5T>C Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-8C>A Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-8C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.458-9T>C Single submitter
• c.627+14A>G Single submitter hereditary neoplastic syndrome
• c.627+3G>A Single submitter Lynch syndrome 5
• c.627+6A>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.628-13C>G Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.628-7C>A Single submitter Inherited prostate cancer
• c.628-8C>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.-12C>G Single submitter Lynch syndrome
• c.-16C>A Single submitter hereditary neoplastic syndrome
• c.-17C>G Single submitter
• c.-18G>T Single submitter Breast and/or ovarian cancer
• c.-1T>C Single submitter hereditary neoplastic syndrome
• c.-24G>A Single submitter
• c.-2G>T Single submitter Hereditary nonpolyposis colorectal neoplasms
• c.-4C>T Single submitter hereditary neoplastic syndrome
• c.-6G>C Single submitter hereditary neoplastic syndrome
• c.-6G>T Single submitter mismatch repair cancer syndrome 3
• c.-7T>A Single submitter hereditary neoplastic syndrome
• c.-8C>T Single submitter hereditary neoplastic syndrome
• c.*10A>C Single submitter mismatch repair cancer syndrome 3
• c.*10A>G Single submitter hereditary neoplastic syndrome
• c.*1A>G Single submitter hereditary neoplastic syndrome
• c.*24_*28del Single submitter Inherited ovarian cancer (without breast cancer)
• c.*2C>T Single submitter Lynch syndrome
• c.*3T>C Single submitter hereditary neoplastic syndrome
• c.*4_*6dup Single submitter hereditary neoplastic syndrome
• c.*49_*68dup Single submitter Lynch syndrome 5
• c.*5A>G Single submitter Lynch syndrome 5
• c.*6C>T Single submitter Lynch syndrome
• c.*85T>A Single submitter Lynch syndrome 5
• p.54GP[3] Single submitter hereditary neoplastic syndrome
• p.Ala1021Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1055Thr Single submitter Lynch syndrome 5 ⚠
• p.Ala1064Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1064Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1151Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1154Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1154Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1162Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1162Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1220Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1228_Ala1230del Single submitter hereditary neoplastic syndrome
• p.Ala1230Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1236Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1261Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1268= Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Ala1268Val Single submitter Lynch syndrome ⚠
• p.Ala1293Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1293Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1302Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala1339Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala1347Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala159Thr Single submitter Lynch syndrome ⚠
• p.Ala159Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala168Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala168Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala16Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala175Val Single submitter Lynch syndrome ⚠
• p.Ala23Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala23Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala23Thr Single submitter endometrial carcinoma ⚠
• p.Ala25Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala25Ser Single submitter endometrial carcinoma ⚠
• p.Ala25Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala297Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala322Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala339Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala342Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala34Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala350= Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Ala350Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala35Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala35Val Single submitter endometrial carcinoma ⚠
• p.Ala36Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala36Val Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Ala37Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala393Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala40Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala40Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala40Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala49= Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Ala494Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala494Val Single submitter MSH6-related disorder ⚠
• p.Ala49Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala49Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala500Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala555= Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Ala61Val Single submitter mismatch repair cancer syndrome 3 ⚠
• p.Ala64Pro Single submitter MSH6-related disorder ⚠
• p.Ala680Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala704Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala724Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala737Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala780Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala81Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala81Val Single submitter endometrial carcinoma ⚠
• p.Ala83= Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Ala879Val Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Ala915Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Ala915Gly Single submitter endometrial carcinoma ⚠
• p.Ala921Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala940Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala942Asp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1005Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1005Leu Single submitter endometrial carcinoma ⚠
• p.Arg1024Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1024Trp Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
• p.Arg1034Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1034Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1035Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1035Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1035Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1068Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1076His Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Arg1095Cys Single submitter endometrial carcinoma ⚠
• p.Arg1095His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1217Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg121Cys Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Arg121His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1242Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1242Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1242Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1263Cys Single submitter Inherited MMR deficiency (Lynch syndrome) ⚠
• p.Arg1263His Single submitter Inherited polyposis and early onset colorectal cancer - germline testing ⚠
• p.Arg128Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg128Leu Single submitter Lynch syndrome
• p.Arg1318Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1321= Single submitter Lynch syndrome
• p.Arg1321Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg1331Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1331Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1334Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg1342Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg174Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg178Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg178His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg178Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Arg240Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg243Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg243His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg248Gln Single submitter endometrial carcinoma ⚠
• p.Arg248Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg248Pro Single submitter Lynch syndrome ⚠
• p.Arg249Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg26Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg26Thr Single submitter Lynch syndrome ⚠
• p.Arg298Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg298Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg29His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg300Gln Single submitter mismatch repair cancer syndrome 3 ⚠
• p.Arg300Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg302Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg302Thr Single submitter mismatch repair cancer syndrome 3 ⚠
• p.Arg316Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg33Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg33Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg33Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg33Pro Single submitter MSH6-related disorder ⚠
• p.Arg361Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg361His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg378= Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Arg384Met Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg385del Single submitter hereditary neoplastic syndrome
• p.Arg411Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg468Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg468Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg482Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg482Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg510Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg511Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg554Cys Single submitter Lynch syndrome ⚠
• p.Arg554His Single submitter Lynch syndrome 5 ⚠
• p.Arg577Cys Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Arg577Gly Single submitter Lynch syndrome 5 ⚠
• p.Arg577His Single submitter hereditary nonpolyposis colon cancer ⚠
• p.Arg583Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg62His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg62Leu Single submitter endometrial carcinoma ⚠
• p.Arg62Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg62Ser Single submitter Hereditary nonpolyposis colorectal neoplasms
• p.Arg635Lys Single submitter Lynch syndrome ⚠
• p.Arg644Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg644Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Arg721Gly Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg721Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Arg721Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg732Gln Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg732Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Arg761Gly Single submitter endometrial carcinoma
• p.Arg761Lys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg761Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg772Gln Single submitter mismatch repair cancer syndrome 3 ⚠
• p.Arg77Trp Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg78Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg791His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg901Cys Single submitter Lynch syndrome ⚠
• p.Arg901His Single submitter Lynch syndrome ⚠
• p.Arg901Ser Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg911Gln Single submitter Lynch syndrome 5
• p.Arg911Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg959Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg959His Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg959Pro Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg961Thr Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg965Thr Single submitter hereditary neoplastic syndrome
• p.Arg974Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg976Cys Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg976His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg988Cys Single submitter Lynch syndrome 5 ⚠
• p.Arg988His Single submitter hereditary neoplastic syndrome ⚠
• p.Arg988Leu Single submitter Hereditary nonpolyposis colorectal neoplasms ⚠
• p.Arg988Pro Single submitter Lynch syndrome