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: 247
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HGVS dbSNP
NM_007194.3(CHEK2):c.-7+4_-7+13delAGTCATATGG rs1555936035
NM_007194.4(CHEK2):c.-10C>T rs730881693
NM_007194.4(CHEK2):c.-3G>C rs876659027
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6-12T>A rs1064793997
NM_007194.4(CHEK2):c.-6-9C>G rs565169061
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.-7+6T>C rs1064794639
NM_007194.4(CHEK2):c.-7+8A>C rs1006865074
NM_007194.4(CHEK2):c.-8C>T rs539227672
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.1008G>A (p.Gln336=) rs201544715
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.1022A>C (p.Asn341Thr) rs773846607
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser) rs863224746
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) rs202051128
NM_007194.4(CHEK2):c.1033C>G (p.His345Asp) rs864622537
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu) rs730881689
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) rs765425451
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) rs760449049
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) rs199859140
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg) rs1064793339
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) rs774179198
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu) rs587780166
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
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.1130A>G (p.Glu377Gly) rs560973106
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys) rs267606211
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.114A>G (p.Ile38Met) rs876661249
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) rs587782817
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) rs145324174
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.1175C>T (p.Ala392Val) rs373073383
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val) rs886041172
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly) rs527878975
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) rs1342820782
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) rs121908704
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225
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.1233G>C (p.Trp411Cys) rs1064796572
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.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1260-4T>G rs1064793337
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1260-8A>G rs863224747
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590
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.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His) rs769933461
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) rs1064795041
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly) rs1064793470
NM_007194.4(CHEK2):c.1293G>T (p.Arg431Ser) rs587780175
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
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.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) rs139088611
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) rs776093527
NM_007194.4(CHEK2):c.1376-12T>C rs876660970
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1396_1398TTG[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>T (p.Asp470Tyr) rs876658449
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.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) rs786203490
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) rs587780177
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1461+5G>T rs769841229
NM_007194.4(CHEK2):c.1461+6T>C rs1064795915
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) rs730881694
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) rs587780178
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
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.1513T>C (p.Ser505Pro) rs587781960
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838
NM_007194.4(CHEK2):c.1563del (p.Arg523fs) rs786202339
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) rs753204096
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.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
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.164C>T (p.Ser55Phe) rs765799649
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) rs864622684
NM_007194.4(CHEK2):c.196G>A (p.Val66Met) rs730881696
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg) rs876661109
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013
NM_007194.4(CHEK2):c.231_245CCAAGAACCTGAGGA[1] (p.77_81DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.231_245CCAAGAACCTGAGGA[3] (p.77_81DQEPE[3]) rs587780181
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.277T>C (p.Trp93Arg) rs730881697
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) rs537051622
NM_007194.4(CHEK2):c.319+5G>T rs730881698
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) rs876661027
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.38A>G (p.His13Arg) rs1064793324
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
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.427C>T (p.His143Tyr) rs1060502688
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667
NM_007194.4(CHEK2):c.444+3A>G rs587781279
NM_007194.4(CHEK2):c.444+6T>C rs1060502720
NM_007194.4(CHEK2):c.445-15T>A rs1064793595
NM_007194.4(CHEK2):c.445-4T>C rs1064795487
NM_007194.4(CHEK2):c.445-9C>G rs1064794870
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu) rs1359910629
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg) rs730881682
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652
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.500G>A (p.Gly167Glu) rs144850845
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu) rs876659653
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) rs876659400
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg) rs876661085
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly) rs137853010
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.592+3_592+4del rs1064794120
NM_007194.4(CHEK2):c.592+4A>G rs375905418
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile) rs730881704
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813
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.61C>A (p.Pro21Thr) rs587782323
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612
NM_007194.4(CHEK2):c.683+4A>G rs1064795509
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser) rs1064794948
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) rs730881685
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg) rs587782419
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984
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.751A>T (p.Ile251Phe) rs587780189
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) rs730881686
NM_007194.4(CHEK2):c.793G>C (p.Asp265His) rs1064793689
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) rs766462610
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met) rs756692505
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.886G>C (p.Asp296His) rs876659553
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) rs876659553
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) rs779607427
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe) rs786202256
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) rs587782033
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191
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.931G>A (p.Asp311Asn) rs587782347
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) rs1064795532
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) rs587782416
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) rs148053495
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284
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
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194

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