ClinVar Miner

List of variants in gene CHEK2 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 55
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HGVS dbSNP
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1095+1G>A rs768172525
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) rs1064794965
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.1209dup (p.Tyr404fs) rs886041455
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+2T>C
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.422del (p.Lys141fs) rs1555927165
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser) rs17879961
NM_007194.4(CHEK2):c.480_482AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.625_628CAGT[1] (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.735_742dup (p.Ile248delinsLysTer) rs1555921143
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.836del (p.Lys279fs) rs1555920142
NM_007194.4(CHEK2):c.846+1G>A rs864622149
NM_007194.4(CHEK2):c.846+1G>C 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.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_007194.4(CHEK2):c.908+5G>C rs1064796016
NM_007194.4(CHEK2):c.909-1G>T rs886039721
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007194.4(CHEK2):c.936dup (p.Val313fs) rs1555915491

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