ClinVar Miner

List of variants in gene CHEK2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) rs587780178 0.00004
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) rs765799649 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_007194.4(CHEK2):c.-8C>T rs539227672 0.00003
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) rs773846607 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His) rs769933461 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp) rs780920036 0.00002
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) rs537051622 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu) rs144850845 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007194.4(CHEK2):c.-10C>T rs730881693 0.00001
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) rs374660293 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) rs202051128 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) rs760449049 0.00001
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140 0.00001
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg) rs1064793339 0.00001
NM_007194.4(CHEK2):c.1096-4T>C rs587782840 0.00001
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817 0.00001
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) rs145324174 0.00001
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser) rs587780168 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val) rs886041172 0.00001
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) rs1342820782 0.00001
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704 0.00001
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) rs369070738 0.00001
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His) rs766191039 0.00001
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys) rs1064796572 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly) rs1064793470 0.00001
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) rs876660046 0.00001
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) rs139088611 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) rs776093527 0.00001
NM_007194.4(CHEK2):c.1376-12T>C rs876660970 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg) rs529571124 0.00001
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173 0.00001
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) rs730881694 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly) rs753560465 0.00001
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965 0.00001
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) rs753204096 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) rs864622684 0.00001
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171 0.00001
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013 0.00001
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr) rs1300016035 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) rs876661027 0.00001
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys) rs587781982 0.00001
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys) rs876658557 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.444+3A>G rs587781279 0.00001
NM_007194.4(CHEK2):c.444+6T>C rs1060502720 0.00001
NM_007194.4(CHEK2):c.445-15T>A rs1064793595 0.00001
NM_007194.4(CHEK2):c.445-4T>C rs1064795487 0.00001
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly) rs786203794 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser) rs587782413 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) rs876659400 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) rs786203483 0.00001
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro) rs766599514 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724 0.00001
NM_007194.4(CHEK2):c.5C>T (p.Ser2Phe) rs1417811260 0.00001
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) rs767253467 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg) rs587782419 0.00001
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193 0.00001
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) rs730881686 0.00001
NM_007194.4(CHEK2):c.793G>C (p.Asp265His) rs1064793689 0.00001
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln) rs749963436 0.00001
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196 0.00001
NM_007194.4(CHEK2):c.846+5G>A rs764394796 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met) rs756692505 0.00001
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) rs876659553 0.00001
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) rs779607427 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe) rs786202256 0.00001
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) rs587782033 0.00001
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile) rs1156943614 0.00001
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191 0.00001
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532 0.00001
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416 0.00001
NM_007194.4(CHEK2):c.-3G>C rs876659027
NM_007194.4(CHEK2):c.-6-12T>A rs1064793997
NM_007194.4(CHEK2):c.-6-9C>G rs565169061
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr) rs864622371
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro) rs864622371
NM_007194.4(CHEK2):c.1001C>A (p.Ala334Asp) rs1555915316
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) rs587782441
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) rs374660293
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr) rs371207635
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) rs863224746
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser) rs863224746
NM_007194.4(CHEK2):c.1033C>G (p.His345Asp) rs864622537
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu) rs730881689
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) rs765425451
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) rs755127902
NM_007194.4(CHEK2):c.1103A>T (p.Asp368Val)
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu) rs587780166
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys) rs147877722
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe) rs147877722
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) rs786202446
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser) rs1601723329
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys) rs267606211
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu) rs375130261
NM_007194.4(CHEK2):c.114A>G (p.Ile38Met) rs876661249
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe) rs145324174
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) rs587780168
NM_007194.4(CHEK2):c.1163C>A (p.Pro388His) rs1601722891
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile) rs2145804544
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly) rs527878975
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val) rs1435731482
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser) rs587782527
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn) rs766191039
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg) rs587780172
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn) rs1555913662
NM_007194.4(CHEK2):c.1235G>C (p.Ser412Thr) rs1555913662
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp) rs748555394
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr) rs1555913642
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu) rs1064793737
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr) rs1601721712
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1260-20CT[3] rs760037989
NM_007194.4(CHEK2):c.1260-4T>G rs1064793337
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His) rs1060502714
NM_007194.4(CHEK2):c.1267G>T (p.Gly423Trp) rs730881691
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu) rs1064793300
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) rs1064795041
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met) rs1555913504
NM_007194.4(CHEK2):c.1293G>T (p.Arg431Ser) rs587780175
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly) rs1569112074
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu) rs587780176
NM_007194.4(CHEK2):c.1318A>T (p.Ile440Phe) rs587780176
NM_007194.4(CHEK2):c.1324A>G (p.Ser442Gly)
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val) rs750012749
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer)
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val) rs876659512
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) rs876658456
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met) rs730881692
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala) rs763344790
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His) rs876658449
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr) rs876658449
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) rs1060502713
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) rs1064793511
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser) rs540635787
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile) rs762488591
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val) rs786203303
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys) rs1555913090
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) rs786203490
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg) rs1601715793
NM_007194.4(CHEK2):c.1461+5G>T rs769841229
NM_007194.4(CHEK2):c.1461+6T>C rs1064795915
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) rs730881694
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val) rs549945536
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) rs1060502682
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro) rs1338238773
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) rs747797219
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1562G>C (p.Arg521Pro)
NM_007194.4(CHEK2):c.1563del (p.Arg523fs) rs786202339
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter) rs138040612
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr) rs1444665408
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) rs587781710
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) rs587781710
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val) rs1064795821
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met) rs1064794950
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser) rs767414081
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) rs876659424
NM_007194.4(CHEK2):c.196G>A (p.Val66Met) rs730881696
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg) rs876661109
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val) rs1555932352
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.77DQEPE[3]) rs587780181
NM_007194.4(CHEK2):c.239C>G (p.Pro80Arg)
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del) rs1064793085
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser) rs777588170
NM_007194.4(CHEK2):c.276_303delinsTGGCCCTTCA (p.Trp93_Asp101delinsGlyProSer) rs2146143883
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser) rs786203889
NM_007194.4(CHEK2):c.293C>A (p.Ala98Asp) rs1601851270
NM_007194.4(CHEK2):c.313A>C (p.Asn105His) rs1010061908
NM_007194.4(CHEK2):c.319+5G>T rs730881698
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.326T>A (p.Val109Glu)
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu) rs757340619
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn) rs786202246
NM_007194.4(CHEK2):c.371G>T (p.Cys124Phe) rs754768271
NM_007194.4(CHEK2):c.374T>G (p.Phe125Cys) rs1064794677
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly) rs864622541
NM_007194.4(CHEK2):c.38A>G (p.His13Arg) rs1064793324
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp) rs730881703
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys) rs587780182
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.444+5G>C rs189961251
NM_007194.4(CHEK2):c.445-6T>G rs2146062425
NM_007194.4(CHEK2):c.445-9C>G rs1064794870
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu) rs1359910629
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu) rs1555927017
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg) rs730881682
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg) rs1426424086
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.486_488del (p.His163del) rs1064794964
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp) rs876660846
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp) rs876659089
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu) rs876659653
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu) rs2053942160
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg) rs876661085
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del) rs876658857
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly) rs137853010
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr) rs1555926784
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) rs786203042
NM_007194.4(CHEK2):c.592+3_592+4del rs1064794120
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile) rs730881704
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) rs587780187
NM_007194.4(CHEK2):c.619G>T (p.Asp207Tyr)
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.646T>G (p.Leu216Val) rs2146005941
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr) rs1601853823
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys) rs1060502690
NM_007194.4(CHEK2):c.664A>G (p.Met222Val) rs786203472
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys) rs775134484
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg) rs878854920
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu) rs2053689692
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly) rs745475247
NM_007194.4(CHEK2):c.683+4A>G rs1064795509
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn) rs1601805361
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser) rs1064794948
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) rs730881685
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly) rs1601783933
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) rs765136136
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly) rs141776984
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr) rs587778193
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp) rs1064795978
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr) rs2053410234
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu) rs786201896
NM_007194.4(CHEK2):c.791C>T (p.Ala264Val) rs765216307
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) rs766462610
NM_007194.4(CHEK2):c.830T>G (p.Leu277Trp) rs1555920150
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr) rs587782196
NM_007194.4(CHEK2):c.847-12C>G rs769724628
NM_007194.4(CHEK2):c.847-5C>G rs1555917045
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val) rs986132746
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe) rs986132746
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr) rs1555917019
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) rs876659184
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe) rs1341939689
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.886G>C (p.Asp296His) rs876659553
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.893A>T (p.Tyr298Phe)
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) rs779607427
NM_007194.4(CHEK2):c.908+6T>C rs748988275
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg) rs587783051
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) rs587783051
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu) rs587780192
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.937G>C (p.Val313Leu)
NM_007194.4(CHEK2):c.940G>A (p.Val314Met)
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu) rs587782480
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.973A>C (p.Lys325Gln) rs587780193
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) rs587780193

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.