ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
CHEK2, 1-BP DEL, 1100C
CHEK2, 1-BP DEL, 1422T
NC_000022.10:g.(?_29083731)_(29121355_?)del
NC_000022.10:g.(?_29083875)_(29092985_?)del
NC_000022.10:g.(?_29083875)_(29106057_?)del
NC_000022.10:g.(?_29083875)_(29115483_?)del
NC_000022.10:g.(?_29083875)_(29130719_?)del
NC_000022.10:g.(?_29083879)_(29130715_?)del
NC_000022.10:g.(?_29090010)_(29090115_?)del
NC_000022.10:g.(?_29090010)_(29130719_?)del
NC_000022.10:g.(?_29090014)_(29130715_?)del
NC_000022.10:g.(?_29091105)_(29092985_?)del
NC_000022.10:g.(?_29091105)_(29099564_?)del
NC_000022.10:g.(?_29091109)_(29099560_?)del
NC_000022.10:g.(?_29095816)_(29095935_?)del
NC_000022.10:g.(?_29095820)_(29095931_?)del
NC_000022.10:g.(?_29095820)_(29130715_?)del
NC_000022.10:g.(?_29099483)_(29099564_?)del
NC_000022.10:g.(?_29099493)_(29099554_?)del
NC_000022.10:g.(?_29105984)_(29108015_?)del
NC_000022.10:g.(?_29105984)_(29130719_?)del
NC_000022.10:g.(?_29105988)_(29108011_?)del
NC_000022.10:g.(?_29105994)_(29115473_?)del
NC_000022.10:g.(?_29107887)_(29108015_?)del
NC_000022.10:g.(?_29115373)_(29115483_?)del
NC_000022.10:g.(?_29115377)_(29115479_?)del
NC_000022.10:g.(?_29120955)_(29121365_?)del
NC_000022.10:g.(?_29120955)_(29130719_?)del
NC_000022.10:g.(?_29120965)_(29121355_?)del
NC_000022.10:g.(?_29121225)_(29121361_?)del
NC_000022.10:g.(?_29130381)_(29130719_?)del
NC_000022.10:g.(?_29130385)_(29130715_?)del
NM_007194.3(CHEK2):c.320-3971_453del
NM_007194.3(CHEK2):c.444+1delG rs1064793780
NM_007194.3(CHEK2):c.909-?_1095+?del
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) rs1569120831
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs)
NM_007194.4(CHEK2):c.1022del (p.Asn341fs) rs1569116316
NM_007194.4(CHEK2):c.1049del (p.Pro350fs)
NM_007194.4(CHEK2):c.1063del (p.Leu355fs) rs1555914279
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) rs1064793566
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs) rs1555932583
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) rs1555913934
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) rs1555913881
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) rs1569114113
NM_007194.4(CHEK2):c.1135_1136TC[2] (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs) rs1569113653
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs) rs1569171106
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) rs876658302
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) rs876658302
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter) rs587781836
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) rs786203031
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer) rs1555913645
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter) rs878854913
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1259+1G>C rs121908707
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter) rs1555913494
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs) rs1555913493
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) rs1555913464
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer)
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.133del (p.Thr45fs) rs1555932518
NM_007194.4(CHEK2):c.1347del (p.Glu450fs)
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) rs730881702
NM_007194.4(CHEK2):c.1368del (p.Glu457fs) rs1555913410
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) rs1555913106
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs) rs1555913094
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) rs1555913078
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter) rs1199577809
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) rs876659250
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) rs1420382294
NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs) rs1555912060
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs) rs1555932481
NM_007194.4(CHEK2):c.1543-9_1546del rs1555911638
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.161_164del (p.His54fs) rs1569170839
NM_007194.4(CHEK2):c.181del (p.Ser61fs)
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) rs878854917
NM_007194.4(CHEK2):c.214_218TATTC[1] (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341
NM_007194.4(CHEK2):c.232del (p.Gln78fs) rs1555932344
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) rs1555932326
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.252del (p.Glu84fs)
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.269del (p.Pro90fs)
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) rs1555932231
NM_007194.4(CHEK2):c.276del (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) rs786203889
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817
NM_007194.4(CHEK2):c.292del (p.Ala98fs) rs1555932116
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) rs876659833
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.322_323TG[2] (p.Val109fs) rs1555927398
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) rs1555927374
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.364del (p.Glu122fs) rs786203355
NM_007194.4(CHEK2):c.366del (p.Glu122fs) rs1555927302
NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter) rs1555927291
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.383del (p.Pro128fs) rs1569158776
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer) rs1569158640
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.433del (p.Arg145fs) rs1555927137
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.448del (p.Val150fs) rs1555927038
NM_007194.4(CHEK2):c.449del (p.Val150fs)
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) rs864622453
NM_007194.4(CHEK2):c.494del (p.Gly165fs) rs1569157733
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) rs137853008
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
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.56C>G (p.Ser19Ter) rs1555932877
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) rs775167943
NM_007194.4(CHEK2):c.581del (p.Ser194fs) rs587780186
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.600del (p.Phe202fs) rs1555924538
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.621del (p.Asp207fs) rs1569150017
NM_007194.4(CHEK2):c.622del (p.Asp208fs) rs773955899
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter) rs767253467
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs) rs1555921327
NM_007194.4(CHEK2):c.706del (p.Leu236fs) rs1555921290
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.762del (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.762dup (p.Lys255fs) rs1131691044
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) rs1060502710
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs) rs1060502687
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs)
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) rs376736188
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) rs749963436
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.869del (p.Asn290fs) rs1422634212
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs) rs1555932735
NM_007194.4(CHEK2):c.870del (p.Phe292fs) rs1555916987
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) rs772683219
NM_007194.4(CHEK2):c.876del (p.Phe292fs) rs772683219
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) rs772683219
NM_007194.4(CHEK2):c.879del (p.Asp293fs) rs1555916968
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) rs1390889028
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.971del (p.Cys324fs) rs1569121172
NM_007194.4(CHEK2):c.974del (p.Lys325fs) rs1555915409
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs) rs1555915392
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) rs1569121048
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
NM_007194.4(CHEK2):c.990del (p.Met331fs)
Single allele

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