ClinVar for PubMed (Select 32885271) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1522049	NM_032043.3(BRIP1):c.2258-1G>T	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GPathogenic/Likely pathogenic
Select item 1519354	NM_007294.4(BRCA1):c.3762G>T (p.Lys1254Asn)	BRCA1, LOC126862571 (K1207N +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1329751	NM_000136.3(FANCC):c.461T>G (p.Val154Gly)	FANCC (V154G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1050644	NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn)	CHEK2 (I232N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1050526	NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)	BRCA2 (E1308A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1050371	NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)	BRCA1 (E190* +20 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1050310	NM_024675.4(PALB2):c.2575del (p.Ser859fs)	PALB2 (S859fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1049959	NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)	BRCA2 (K434Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1049462	NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp)	CHEK2 (E172D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1049437	NM_000136.3(FANCC):c.4G>A (p.Ala2Thr)	FANCC (A2T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1049095	NM_000179.3(MSH6):c.467C>T (p.Ser156Leu)	MSH6 (S156L)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1048966	NM_000535.7(PMS2):c.2092G>C (p.Val698Leu)	PMS2 (V387L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 951963	NM_000136.3(FANCC):c.1636C>G (p.Leu546Val)	FANCC, AOPEP (L546V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 949331	NM_002878.4(RAD51D):c.754A>C (p.Thr252Pro)	RAD51D, RAD51L3-RFFL (T272P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 869004	NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile)	BRCA1 (S1794I +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 822480	NM_024675.4(PALB2):c.2999G>A (p.Gly1000Asp)	PALB2 (G1000D)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 822253	NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala)	CHEK2 (T316A +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 819362	NM_000179.3(MSH6):c.1493A>G (p.Lys498Arg)	MSH6 (K498R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 698944	NM_000251.3(MSH2):c.1635G>A (p.Gln545=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 661444	NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)	BRCA2 (A2730G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 655636	NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly)	BRIP1 (V572G)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 646022	NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)	ATM (P884A)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 632932	NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	PALB2 (L671*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 631377	NM_007194.4(CHEK2):c.320-1G>T	CHEK2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 617779	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2 (L731*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 578008	NM_000535.7(PMS2):c.979G>A (p.Val327Ile)	PMS2 (V327I +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 573960	NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn)	PMS2 (D401N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 573081	NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)	PMS2 (E705D +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 572261	NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)	ATM, C11orf65 (W2300G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 570552	NM_002878.4(RAD51D):c.844G>A (p.Glu282Lys)	RAD51D, RAD51L3-RFFL (E282K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 565542	NM_007194.4(CHEK2):c.683+2T>C	CHEK2	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 560846	NM_006231.4(POLE):c.5378+1G>T	POLE	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 549722	NM_000179.3(MSH6):c.347A>G (p.Asp116Gly)	MSH6 (D116G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 538766	NM_058216.3(RAD51C):c.245A>G (p.His82Arg)	RAD51C (H82R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 531240	NM_007294.4(BRCA1):c.2215A>C (p.Lys739Gln)	BRCA1 (K739Q +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 530051	NM_000465.4(BARD1):c.1883G>T (p.Cys628Phe)	BARD1 (C628F +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 526329	NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr)	AOPEP, FANCC (I523T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 525857	NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)	MSH6 (E1348A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 492679	NM_004360.5(CDH1):c.2386C>T (p.Arg796Trp)	CDH1 (R796W +3 more)	Single nucleotide variant (missense variant)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 485849	NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)	MSH2 (R711Q +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 485452	NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val)	BRIP1 (I364V)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 485233	NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys)	C11orf65, ATM (G2695C)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 483260	NM_004360.5(CDH1):c.1376T>C (p.Val459Ala)	CDH1 (V459A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 483232	NM_004360.5(CDH1):c.2414A>G (p.Asp805Gly)	CDH1 (D805G +3 more)	Single nucleotide variant (missense variant)	Hereditary diffuse gastric adenocarcinoma +2 more	GUncertain significance
Select item 482899	NM_007294.4(BRCA1):c.515A>G (p.Gln172Arg)	BRCA1 (Q172R +11 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 482665	NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)	ATM (G1679D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 482605	NM_000051.4(ATM):c.1849A>G (p.Met617Val)	ATM (M617V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 481489	NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)	BRCA1 (E418A +20 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 481042	NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)	BRCA2 (M2493L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 480498	NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)	RAD51C	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 479917	NM_000179.3(MSH6):c.1159G>C (p.Asp387His)	MSH6 (D387H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 479798	NM_000251.3(MSH2):c.1424A>T (p.Asp475Val)	MSH2 (D475V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 479567	NM_007194.4(CHEK2):c.765G>T (p.Lys255Asn)	CHEK2 (K255N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 479094	NM_000051.4(ATM):c.611G>T (p.Gly204Val)	ATM (G204V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 461044	NM_032043.3(BRIP1):c.2947del (p.Ile983fs)	BRIP1 (I983fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 460792	NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val)	CHEK2 (A181V +4 more)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 455457	NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)	MLH1 (A282T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 453591	NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)	ATM (R1875P)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +3 more	GUncertain significance
Select item 453589	NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)	ATM (Q1867R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 453539	NM_000051.4(ATM):c.4816C>G (p.Leu1606Val)	ATM (L1606V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 446218	NM_004360.5(CDH1):c.1633C>T (p.Arg545Trp)	CDH1 (R545W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 441507	NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)	BRCA2 (S2372*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 431191	NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)	BRCA2 (H1525P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 423761	NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly)	MLH1 (D418G +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 423044	NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)	BRCA1 (S1841T +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 422702	NM_000136.3(FANCC):c.1014G>A (p.Lys338=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 422056	NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)	MSH2 (Y43F)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 421483	NM_000051.4(ATM):c.1726A>G (p.Ile576Val)	ATM (I576V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 421222	NM_002691.4(POLD1):c.965G>A (p.Arg322His)	POLD1 (R322H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance
Select item 420694	NM_000051.4(ATM):c.8655dup (p.Val2886fs)	ATM, C11orf65 (V2886fs)	Duplication (frameshift variant +1 more)	Breast and/or ovarian cancer +4 more	GPathogenic
Select item 419460	NM_032043.3(BRIP1):c.2258-1G>A	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +5 more	GPathogenic/Likely pathogenic
Select item 419387	NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)	BRCA2 (E3377D)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 418968	NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)	ATM, C11orf65 (Y2167C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 410156	NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)	PALB2 (E907G)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 410120	NM_024675.4(PALB2):c.1843C>T (p.Pro615Ser)	PALB2 (P615S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 410059	NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu)	CHEK2 (P92L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 410033	NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu)	CHEK2 (D461E +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 409565	NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu)	BRCA2 (P89L)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GUncertain significance
Select item 407864	NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)	BRIP1 (H396R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 407624	NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)	ATM (F1036L)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 407541	NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)	ATM (Y1248C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 407475	NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)	ATM (R720C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 371931	NM_000465.4(BARD1):c.176_177del (p.Glu59fs)	BARD1 (E59fs)	Microsatellite (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 267059	NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)	BRCA2 (L2732*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 265545	NM_007194.4(CHEK2):c.683+1G>C	CHEK2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 265315	NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)	ATM, C11orf65 (E2272K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 246175	NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)	BRCA1 (P1776H +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 245891	NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)	BARD1 (N255S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 241654	NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)	BRIP1 (H1088Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 241642	NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	BRIP1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 241541	NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)	PALB2 (T734N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
Select item 240759	NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del)	CHEK2 (E295del +3 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 240386	NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)	POLE (A430T)	Single nucleotide variant (missense variant)	POLE-related condition +4 more	GConflicting classifications of pathogenicity
Select item 237316	NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)	MLH1 (N551S +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 236933	NM_000059.4(BRCA2):c.9725C>T (p.Thr3242Ile)	BRCA2 (T3242I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 236760	NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	C11orf65, ATM (L2307fs)	Microsatellite (frameshift variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
Select item 236734	NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)	ATM (K1754N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 236716	NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)	ATM (R1466*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic
Select item 234672	NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)	AOPEP, FANCC (K545R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 234538	NM_000179.3(MSH6):c.2963G>A (p.Arg988His)	MSH6 (R988H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 4