ClinVar Miner

Variants in gene CHEK2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
905 521 0 59 52 4 22 125

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 0 35 8 2 1 0 3
likely pathogenic 35 0 15 0 0 0 2
uncertain significance 8 15 0 52 6 1 2
likely benign 2 0 52 0 24 0 0
benign 1 0 6 24 0 0 0
association 0 0 1 0 0 0 0
risk factor 3 2 2 0 0 0 0

All variants with conflicting interpretations #

Total variants: 125
Download table as spreadsheet
HGVS dbSNP
CHEK2, 1-BP DEL, 1100C
NM_001005735.1(CHEK2):c.1214G>A (p.Cys405Tyr) rs767306337
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.1188delT (p.Val397Phefs) rs753159426
NM_007194.3(CHEK2):c.1254delT (p.Phe418Leufs) rs587780173
NM_007194.3(CHEK2):c.1260-6delA rs878854912
NM_007194.3(CHEK2):c.1263delT (p.Ser422Valfs) rs587780174
NM_007194.3(CHEK2):c.1337delA (p.Asn446Thrfs) rs876659639
NM_007194.3(CHEK2):c.1417_1428del12 (p.Ala473_Thr476del) rs876659422
NM_007194.3(CHEK2):c.1434delA (p.Glu479Lysfs) rs786202601
NM_007194.3(CHEK2):c.1489delG (p.Asp497Ilefs) rs774175654
NM_007194.3(CHEK2):c.1501delG (p.Glu501Argfs) rs1131691045
NM_007194.3(CHEK2):c.1567delC (p.Arg523Valfs) rs587782684
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) rs587780181
NM_007194.3(CHEK2):c.247delC (p.Gln83Lysfs) rs587782766
NM_007194.3(CHEK2):c.282delT (p.Arg95Aspfs) rs1064795959
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_007194.3(CHEK2):c.591delA (p.Val198Phefs) rs587782245
NM_007194.3(CHEK2):c.593-11_593-7delTTCTT rs863224414
NM_007194.3(CHEK2):c.606delT (p.Phe202Leufs) rs886039609
NM_007194.3(CHEK2):c.846+4_846+7delAGTA rs764884641
NM_007194.3(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.3(CHEK2):c.860delA (p.Lys287Argfs) rs886039731
NM_007194.3(CHEK2):c.902delT (p.Leu301Trpfs) rs748005072
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*2dup rs749257861
NM_007194.4(CHEK2):c.*5C>T rs587781367
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.1008+13C>T rs193264230
NM_007194.4(CHEK2):c.1008+8A>G rs139986197
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1096del (p.Ile366Leufs) rs1555913941
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
NM_007194.4(CHEK2):c.1260-10C>G rs730881706
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1368dup (p.Glu457Argfs) rs730881700
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
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.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
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.1503G>A (p.Glu501=) rs1060502721
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
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.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.1542+6C>T rs1414780425
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) rs202104749
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.276dup (p.Trp93Leufs) rs876661156
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+19T>C rs200501745
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.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889
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>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) rs786203042
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.593-14C>T rs145754558
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+9T>C rs1060504691
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007194.4(CHEK2):c.847-17T>C rs199780411
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
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.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192

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