"Sema4, Sema4"[submitter] AND "CHEK2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 483364	NM_007194.4(CHEK2):c.1620T>C (p.Ala540=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 128067	NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)	CHEK2 (R535H +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182442	NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys)	CHEK2 (R535C +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 142032	NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)	CHEK2 (T533A +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 216642	NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)	CHEK2 (G529D +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142361	NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)	CHEK2 (E528K +4 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1692942	NM_007194.4(CHEK2):c.1569T>G (p.Arg523=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 460810	NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)	CHEK2 (R523H +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 142737	NM_007194.4(CHEK2):c.1567del (p.Arg523fs)	CHEK2 (R302fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 141007	NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)	CHEK2 (R523C +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 128064	NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	CHEK2 (R519* +4 more)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 1568626	NM_007194.4(CHEK2):c.1543-14dup	CHEK2	Duplication (intron variant)	Familial cancer of breast +1 more	GBenign/Likely benign
Select item 1692941	NM_007194.4(CHEK2):c.1531del (p.Val511fs)	CHEK2 (V290fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 128063	NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	CHEK2 (P509S +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 182441	NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)	CHEK2 (S505T +4 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141718	NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)	CHEK2 (S505P +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 142479	NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	CHEK2 (E504Q +4 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 182440	NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)	CHEK2 (E501K +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136745	NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 185233	NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)	CHEK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 128062	NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)	CHEK2 (D490E +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 142596	NM_007194.4(CHEK2):c.1462-2A>G	CHEK2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 230446	NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 140938	NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	CHEK2 (P484L +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 182439	NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr)	CHEK2 (P484T +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 415933	NM_007194.4(CHEK2):c.1428G>A (p.Thr476=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 486833	NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys)	CHEK2 (T476K +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 128060	NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	CHEK2 (T476M +4 more)	Single nucleotide variant (missense variant)	Colorectal cancer +10 more	GConflicting classifications of pathogenicity
Select item 141046	NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	CHEK2 (F475I +4 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 418901	NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg)	CHEK2 (K472R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 136744	NM_007194.4(CHEK2):c.1407G>A (p.Val469=)	CHEK2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 230233	NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del)	CHEK2 (L467del +4 more)	Microsatellite (inframe_deletion)	Familial cancer of breast +2 more	GUncertain significance
Select item 418624	NM_007194.4(CHEK2):c.1376-13A>G	CHEK2	Single nucleotide variant (intron variant)	Malignant tumor of prostate +5 more	GUncertain significance
Select item 182450	NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)	CHEK2 (E428fs +4 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 232867	NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile)	CHEK2 (V451I +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 133892	NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)	CHEK2 (I448S +4 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 233388	NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys)	CHEK2 (F447C +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692939	NM_007194.4(CHEK2):c.1336A>C (p.Asn446His)	CHEK2 (N225H +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 126909	NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	CHEK2 (N446D +4 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 530206	NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg)	CHEK2 (K444R +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 183930	NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)	CHEK2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 5603	NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	CHEK2 (S428F +4 more)	Single nucleotide variant (missense variant)	CHEK2-related cancer risk +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
Select item 128054	NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	CHEK2 (Y424H +4 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 128053	NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	CHEK2 (S355fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +10 more	GPathogenic/Likely pathogenic
Select item 240731	NM_007194.4(CHEK2):c.1260-6del	CHEK2	Deletion (intron variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 182459	NM_007194.4(CHEK2):c.1260-10C>G	CHEK2	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 491595	NM_007194.4(CHEK2):c.1260-20CT[3]	CHEK2	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 439090	NM_007194.4(CHEK2):c.1259+8A>G	CHEK2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 954575	NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg)	CHEK2 (S455R +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 234505	NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)	CHEK2 (W411* +4 more)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic/Likely pathogenic
Select item 142760	NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)	CHEK2 (R406H +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 479574	NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser)	CHEK2 (R406S +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 410043	NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys)	CHEK2 (Y404C +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 128048	NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)	CHEK2 (E394K +4 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183985	NM_007194.4(CHEK2):c.1176G>A (p.Ala392=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 141818	NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	CHEK2 (Y390S +4 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 128046	NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)	CHEK2 (T378I +4 more)	Single nucleotide variant (missense variant)	CHEK2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 128045	NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly)	CHEK2 (E377G +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 1692937	NM_007194.4(CHEK2):c.1116C>T (p.Ser372=)	CHEK2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +20 more	GPathogenic
Select item 491590	NM_007194.4(CHEK2):c.1096-10T>C	CHEK2	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 231064	NM_007194.4(CHEK2):c.1089T>C (p.Leu363=)	CHEK2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182431	NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)	CHEK2 (R346H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142222	NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)	CHEK2 (R346C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 183963	NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)	CHEK2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 410044	NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr)	CHEK2 (N341T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 142406	NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe)	CHEK2 (L338F +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 479579	NM_007194.4(CHEK2):c.1008+2T>G	CHEK2	Single nucleotide variant (splice donor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 279766	NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)	CHEK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220075	NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr)	CHEK2 (A334T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128092	NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)	CHEK2 (Y327C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 420222	NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu)	CHEK2 (K325E +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 479605	NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)	CHEK2 (E321* +3 more)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 133890	NM_007194.4(CHEK2):c.953G>A (p.Arg318His)	CHEK2 (R318H +3 more)	Single nucleotide variant (missense variant)	CHEK2-related disorder +9 more	GUncertain significance
Select item 422065	NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu)	CHEK2 (K312E +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 142266	NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)	CHEK2 (D311N +3 more)	Single nucleotide variant (missense variant)	Bone osteosarcoma +7 more	GConflicting classifications of pathogenicity
Select item 823069	NM_007194.4(CHEK2):c.917G>T (p.Gly306Val)	CHEK2 (G239V +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 128089	NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)	CHEK2 (G306A +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128088	NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp)	CHEK2 (E305D +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 186170	NM_007194.4(CHEK2):c.910A>G (p.Met304Val)	CHEK2 (M304V +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 918406	NM_007194.4(CHEK2):c.909-1G>C	CHEK2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 530222	NM_007194.4(CHEK2):c.885A>G (p.Glu295=)	CHEK2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 229700	NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)	CHEK2 (C284Y +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 747825	NM_007194.4(CHEK2):c.847-7T>C	CHEK2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 240757	NM_007194.4(CHEK2):c.847-10C>G	CHEK2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 216652	NM_007194.4(CHEK2):c.846+4_846+7del	CHEK2	Deletion (splice donor variant)	Li-Fraumeni syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 496346	NM_007194.4(CHEK2):c.846+5G>A	CHEK2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1692953	NM_007194.4(CHEK2):c.846+2T>A	CHEK2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 219543	NM_007194.4(CHEK2):c.846+1G>C	CHEK2	Single nucleotide variant (splice donor variant)	CHEK2-related cancer predisposition +3 more	GPathogenic/Likely pathogenic
Select item 1554886	NM_007194.4(CHEK2):c.793-7A>G	CHEK2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 491639	NM_007194.4(CHEK2):c.793-11G>A	CHEK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 140932	NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)	CHEK2 (S252N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 128086	NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)	CHEK2 (I251F +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GUncertain significance
Select item 631441	NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile)	CHEK2 (T242I +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 5600	NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	CHEK2 (E239K +3 more)	Single nucleotide variant (missense variant)	Predisposition to cancer +9 more	GUncertain significance
Select item 142448	NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	CHEK2 (L236P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely pathogenic
Select item 460850	NM_007194.4(CHEK2):c.684-8C>T	CHEK2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1692951	NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu)	CHEK2 (K224E +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 142342	NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)	CHEK2 (I221M +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 410045	NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr)	CHEK2 (A215T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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