ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic by Color

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Total variants: 52
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HGVS dbSNP
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
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.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
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.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
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.1492del (p.Leu498fs)
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.214_218TATTC[1] (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
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.444+1G>A rs121908698
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
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.655_659del (p.Glu219fs)
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs) rs1555932735
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) rs1390889028
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.945dup (p.Asn316fs)

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