ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by Mendelics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 251
Download table as spreadsheet
HGVS dbSNP
NM_000179.2(MSH6):c.1508C>T (p.Ser503Phe) rs63750897
NM_000179.2(MSH6):c.1696G>A (p.Gly566Arg) rs63749973
NM_000179.2(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.2(MSH6):c.253C>T (p.Pro85Ser) rs779664343
NM_000179.2(MSH6):c.3314G>T (p.Gly1105Val) rs1060502910
NM_000179.2(MSH6):c.3613_3615dup (p.Thr1205dup) rs1558390840
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.2(MSH6):c.4001+42_4001+44dup rs926031657
NM_000179.2(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.2(MSH6):c.532C>T (p.Arg178Cys) rs730881813
NM_000179.2(MSH6):c.533G>A (p.Arg178His) rs786204186
NM_000179.2(MSH6):c.627+26_627+37del rs1558656848
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu) rs1558660575
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly) rs764150912
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val) rs1553412749
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser) rs1558662449
NM_000179.3(MSH6):c.1661G>A (p.Arg554His) rs730881791
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly) rs537604099
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile) rs767861096
NM_000179.3(MSH6):c.2298T>G (p.His766Gln)
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser) rs373721483
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr) rs1558665569
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys) rs730881797
NM_000179.3(MSH6):c.2640_2641insAAA (p.Gly881_Phe882insLys) rs1252374906
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg) rs876661281
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln) rs761622304
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu) rs1257646433
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu) rs115386788
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg) rs1553414398
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val) rs1553331522
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser) rs369583604
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val) rs781627838
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.3(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln) rs876659115
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val) rs144714869
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr) rs1553333561
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.3(MSH6):c.3971_3973AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.3(MSH6):c.4002-10T>A rs545466048
NM_000179.3(MSH6):c.4002-4T>C rs370428032
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer) rs1553334006
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly) rs876659786
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly) rs1558659442
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala) rs1553412354
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983
NM_000249.3(MLH1):c.1216A>G (p.Ser406Gly) rs864622687
NM_000249.3(MLH1):c.1253A>G (p.Asp418Gly) rs754898711
NM_000249.3(MLH1):c.1344G>T (p.Glu448Asp) rs587779952
NM_000249.3(MLH1):c.1541A>G (p.Asn514Ser) rs772245091
NM_000249.3(MLH1):c.1709A>G (p.Asn570Ser) rs375853155
NM_000249.3(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.3(MLH1):c.743A>G (p.Asn248Ser) rs587782800
NM_000249.4(MLH1):c.-28A>G rs56198082
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.4(MLH1):c.1038+4A>C rs1251478879
NM_000249.4(MLH1):c.1038+8C>T rs751872237
NM_000249.4(MLH1):c.1039-7_1040del
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys) rs1416171624
NM_000249.4(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.4(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.4(MLH1):c.306+6C>T rs746641892
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser) rs267607775
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.4(MLH1):c.884+39G>A rs370283452
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000251.2(MSH2):c.1307T>C (p.Phe436Ser)
NM_000251.2(MSH2):c.1327C>A (p.Leu443Ile) rs876659906
NM_000251.2(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.2(MSH2):c.1462T>G (p.Leu488Val) rs587781314
NM_000251.2(MSH2):c.1489A>G (p.Ile497Val) rs755501968
NM_000251.2(MSH2):c.14C>A (p.Pro5Gln) rs56170584
NM_000251.2(MSH2):c.2005+8dup rs267607992
NM_000251.2(MSH2):c.2064G>A (p.Met688Ile) rs63750790
NM_000251.2(MSH2):c.2203A>G (p.Ile735Val) rs2229061
NM_000251.2(MSH2):c.2393A>G (p.Asn798Ser) rs786204073
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2717T>C (p.Ile906Thr) rs587780687
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000251.2(MSH2):c.386C>G (p.Ser129Cys) rs587779972
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro) rs1558493372
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser) rs755931648
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala) rs754778750
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly) rs370330868
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser) rs1558519495
NM_000251.3(MSH2):c.2009C>A (p.Pro670His) rs41294982
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser) rs1558519505
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106
NM_000251.3(MSH2):c.212-1G>T
NM_000251.3(MSH2):c.212-3_213del
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val) rs1558521518
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu) rs55859129
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile) rs1189127007
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000251.3(MSH2):c.942+17_942+29dup
NM_000251.3(MSH2):c.942+22_942+29dup
NM_000251.3(MSH2):c.942+23_942+29dup
NM_000251.3(MSH2):c.942+24_942+29del
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala)
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001190274.2(FBXO11):c.*906G>T
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser)
NM_001258281.1(MSH2):c.744+29del rs11309117
NM_001281492.1(MSH6):c.3678_3681dup (p.Lys1228delinsAspTer) rs55740729
NM_022055.2(KCNK12):c.*8525G>C
NM_025133.4(FBXO11):c.*1173A>T rs2020906

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.