ClinVar for PubMed (Select 33471991) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311258	NM_000314.8(PTEN):c.163del (p.Arg55fs)	PTEN (R228fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3256158	NM_000179.3(MSH6):c.2561_2562delinsTT	MSH6 (K854M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3075619	NM_000059.4(BRCA2):c.1687T>C (p.Trp563Arg)	BRCA2 (W563R)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3063704	NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]	PMS2 (S523T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2774975	NM_000059.4(BRCA2):c.10091C>G (p.Ser3364Cys)	BRCA2 (S1720C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774879	NM_000059.4(BRCA2):c.910G>C (p.Glu304Gln)	BRCA2 (E304Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774006	NM_024675.4(PALB2):c.2190C>G (p.Ile730Met)	PALB2 (I435M +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774002	NM_024675.4(PALB2):c.2483G>A (p.Cys828Tyr)	PALB2 (C533Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2682086	NM_000455.5(STK11):c.235A>G (p.Ile79Val)	STK11 (I79V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2682028	NM_000179.3(MSH6):c.920A>G (p.Asn307Ser)	MSH6 (N132S +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2681926	NM_020937.4(FANCM):c.359T>C (p.Ile120Thr)	FANCM (I120T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681875	NM_007194.4(CHEK2):c.565A>T (p.Ile189Phe)	CHEK2 (I189F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2681874	NM_007194.4(CHEK2):c.1585G>A (p.Gly529Ser)	CHEK2 (G308S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2681828	NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter)	BRCA2 (Q1507*)	Single nucleotide variant (nonsense +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 2586650	NM_007194.4(CHEK2):c.592+2T>G	CHEK2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2585854	NM_007294.4(BRCA1):c.4790C>T (p.Thr1597Ile)	BRCA1 (T1469I +77 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2578760	NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)	PALB2 (K220* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +2 more	GPathogenic
Select item 2575161	NM_000249.4(MLH1):c.2173_2174delinsTT	MLH1 (R725C +17 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567618	NM_004360.5(CDH1):c.182_183delinsGTG (p.Thr61fs)	CDH1 (T61fs)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2566039	NM_000059.4(BRCA2):c.8650T>C (p.Tyr2884His)	BRCA2 (Y1240H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2565358	NM_007294.4(BRCA1):c.4120A>T (p.Ser1374Cys)	BRCA1 (S1307C +48 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2453974	NM_000051.4(ATM):c.3576_3576+7del	ATM	Deletion (splice donor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2178246	NM_004360.5(CDH1):c.1618G>A (p.Gly540Ser)	CDH1 (G540S +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +1 more	GUncertain significance
Select item 2166148	NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)	FANCM (T143A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2161749	NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)	NBN (E636* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2105921	NM_000179.3(MSH6):c.1892C>T (p.Ser631Phe)	MSH6 (S631F +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2088417	NM_000059.4(BRCA2):c.6248T>C (p.Phe2083Ser)	BRCA2 (F2083S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2056250	NM_024675.4(PALB2):c.2010C>G (p.Asp670Glu)	PALB2 (D670E +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2001791	NM_007294.4(BRCA1):c.2504A>G (p.His835Arg)	BRCA1 (H724R +20 more)	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1979974	NM_000059.4(BRCA2):c.2303C>G (p.Thr768Ser)	BRCA2 (T768S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1975701	NM_000059.4(BRCA2):c.1171T>G (p.Leu391Val)	BRCA2 (L391V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 1809546	NM_007294.4(BRCA1):c.3716C>T (p.Ser1239Phe)	BRCA1, LOC126862571 (S1071F +21 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1809520	NM_032043.3(BRIP1):c.380-1G>T	BRIP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1799424	NM_000051.4(ATM):c.3065T>C (p.Ile1022Thr)	ATM (I1022T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1796700	NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr)	MEN1 (A95T)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 1 +1 more	GUncertain significance
Select item 1794218	NM_021930.6(RINT1):c.1108C>A (p.Leu370Ile)	RINT1 (L62I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1793751	NM_000059.4(BRCA2):c.2608A>G (p.Ile870Val)	BRCA2 (I870V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1792922	NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)	FANCC (E85G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1779693	NM_000251.3(MSH2):c.1766T>C (p.Val589Ala)	MSH2 (V569A +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1779065	NM_024675.4(PALB2):c.1735G>T (p.Ala579Ser)	PALB2 (A559S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1777784	NM_021930.6(RINT1):c.1675T>C (p.Phe559Leu)	RINT1 (F251L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1777418	NM_002907.4(RECQL):c.1659G>C (p.Gln553His)	RECQL (Q553H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1775760	NM_002907.4(RECQL):c.1584_1585del (p.Arg528fs)	RECQL (R528fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 1775287	NM_000059.4(BRCA2):c.1562C>T (p.Ser521Leu)	BRCA2 (S521L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1774655	NM_007294.4(BRCA1):c.1532del (p.Gly511fs)	BRCA1 (G464fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1772719	NM_007194.4(CHEK2):c.1442_1443del (p.Ala480_Leu481insTer)	CHEK2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1771172	NM_000179.3(MSH6):c.1376C>T (p.Ser459Phe)	MSH6 (S157F +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1770430	NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)	BRIP1 (W448*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1768544	NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)	CHEK2 (S33*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +1 more	GPathogenic
Select item 1766120	NM_000059.4(BRCA2):c.1274A>C (p.Glu425Ala)	BRCA2 (E425A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1766043	NM_000251.3(MSH2):c.916G>A (p.Ala306Thr)	MSH2 (A166T +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1763818	NM_000179.3(MSH6):c.854G>A (p.Ser285Asn)	MSH6 (S110N +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 1758235	NM_021930.6(RINT1):c.730A>G (p.Ile244Val)	RINT1 (I244V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1756866	NM_000535.7(PMS2):c.704A>G (p.Gln235Arg)	PMS2 (Q123R +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1752676	NM_000059.4(BRCA2):c.6296G>A (p.Arg2099Lys)	BRCA2 (R2099K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1752468	NM_000051.4(ATM):c.6259G>A (p.Glu2087Lys)	ATM, C11orf65 (E2087K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1748677	NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter)	MUTYH (W381* +12 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +1 more	GPathogenic
Select item 1746346	NM_001048174.2(MUTYH):c.440C>T (p.Ala147Val)	MUTYH (A134V +12 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1745335	NM_000535.7(PMS2):c.50C>G (p.Pro17Arg)	PMS2 (P79R +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 1741614	NM_000136.3(FANCC):c.457A>G (p.Met153Val)	FANCC (M153V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1741121	NM_000059.4(BRCA2):c.451_454dup (p.Thr152fs)	BRCA2 (T152fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 1739194	NM_000051.4(ATM):c.116C>T (p.Thr39Ile)	ATM (T39I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1737638	NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter)	BRCA2 (Q1361*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 1733788	NM_002907.4(RECQL):c.366T>G (p.Cys122Trp)	RECQL (C122W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1692898	NM_005431.2(XRCC2):c.238T>C (p.Phe80Leu)	XRCC2 (F80L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1692325	NM_001042492.3(NF1):c.263A>G (p.Asp88Gly)	NF1 (D88G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692251	NM_000179.3(MSH6):c.2179A>G (p.Thr727Ala)	MSH6 (T425A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1691897	NM_020937.4(FANCM):c.2908G>T (p.Val970Phe)	FANCM (V944F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1691892	NM_020937.4(FANCM):c.1868A>G (p.Gln623Arg)	FANCM (Q597R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1687122	NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)	BRCA2 (H1085Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1677210	NM_000136.3(FANCC):c.1310A>C (p.Gln437Pro)	FANCC, AOPEP (Q437P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1521461	NM_000465.4(BARD1):c.2299G>A (p.Val767Met)	BARD1 (V316M +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
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 1499542	NM_000059.4(BRCA2):c.6941C>T (p.Thr2314Ile)	BRCA2 (T2314I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1487218	NM_000465.4(BARD1):c.1012A>G (p.Thr338Ala)	BARD1 (T338A +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1483967	NM_000059.4(BRCA2):c.3025T>C (p.Phe1009Leu)	BRCA2 (F1009L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1480402	NM_000249.4(MLH1):c.1096C>G (p.Leu366Val)	MLH1 (L8V +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1471719	NM_007294.4(BRCA1):c.1349A>G (p.Lys450Arg)	BRCA1 (K450R +20 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1469755	NM_000059.4(BRCA2):c.2516A>G (p.Tyr839Cys)	BRCA2 (Y839C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1466082	NM_000059.4(BRCA2):c.787A>G (p.Ser263Gly)	BRCA2 (S263G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 1447811	NM_000136.3(FANCC):c.816C>G (p.Ile272Met)	FANCC, AOPEP (I272M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1427275	NM_000059.4(BRCA2):c.8116A>G (p.Asn2706Asp)	BRCA2 (N2706D)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 1426951	NM_000535.7(PMS2):c.845G>A (p.Arg282Lys)	PMS2 (R179K +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1424745	NM_007294.4(BRCA1):c.4195A>G (p.Thr1399Ala)	BRCA1 (T1352A +58 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 1420331	NM_000136.3(FANCC):c.1329G>A (p.Met443Ile)	AOPEP, FANCC (M443I)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1418582	NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu)	MEN1 (P32L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1410371	NM_000059.4(BRCA2):c.5026A>G (p.Ser1676Gly)	BRCA2 (S1676G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1405022	NM_002907.4(RECQL):c.156T>G (p.Asp52Glu)	RECQL (D52E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403905	NM_000179.3(MSH6):c.1192G>T (p.Val398Leu)	MSH6 (V268L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1397505	NM_024675.4(PALB2):c.658A>G (p.Ser220Gly)	PALB2 (S220G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1393373	NM_024675.4(PALB2):c.2687C>T (p.Ser896Phe)	PALB2 (S896F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1387613	NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser)	FANCM (N465S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1363386	NM_000059.4(BRCA2):c.2963A>T (p.Asp988Val)	BRCA2 (D988V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1361430	NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)	FANCM (A1689V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1347001	NM_001042492.3(NF1):c.2794A>C (p.Met932Leu)	NF1 (M932L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1339766	NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)	ATM, C11orf65 (W2291*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 1339261	NM_000059.4(BRCA2):c.2592del (p.Glu865fs)	BRCA2 (E865fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1338777	NM_000051.4(ATM):c.4820del (p.Pro1607fs)	ATM (P1607fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 1335853	NM_020937.4(FANCM):c.4189A>G (p.Met1397Val)	FANCM (M1371V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 1330971	NM_000059.4(BRCA2):c.4257del (p.Asp1420fs)	BRCA2 (D1420fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic

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