ClinVar for PubMed (Select 26689913) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2982327	NM_001113378.2(FANCI):c.84+2_84+3del	FANCI	Microsatellite (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 2981249	NM_022552.5(DNMT3A):c.1554+1G>A	DNMT3A	Single nucleotide variant (splice donor variant)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 2933354	NM_032043.3(BRIP1):c.1935+1G>A	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2709118	NM_001184.4(ATR):c.5536C>T (p.Arg1846Ter)	ATR (R1782* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2675588	NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)	FANCG (Y447*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group G +1 more	GPathogenic/Likely pathogenic
Select item 2425716	NC_000017.10:g.(?_41199640)_(41201231_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2420933	NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)	SLX4 (S1508*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2174295	NC_000002.12:g.29695015del	ALK	Deletion (genic upstream transcript variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1929473	NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)	FANCA (Q993*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 1922093	NM_004618.5(TOP3A):c.2989del (p.Cys997fs)	TOP3A (C902fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1740433	NM_000059.4(BRCA2):c.4416_4417del (p.Asn1473fs)	BRCA2 (N1473fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 1721591	NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)	C11orf65, ATM (F2571L)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 1705248	NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)	ERCC2 (E42* +1 more)	Indel (nonsense)	Cerebrooculofacioskeletal syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1497218	NM_000135.4(FANCA):c.2222+1G>A	FANCA	Single nucleotide variant (splice donor variant)	FANCA-related condition +1 more	GLikely pathogenic
Select item 1495037	NM_152383.5(DIS3L2):c.601+1G>A	DIS3L2	Single nucleotide variant (splice donor variant)	Perlman syndrome	GLikely pathogenic
Select item 1485575	NM_144997.7(FLCN):c.1432+1G>C	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome	GPathogenic
Select item 1478572	NM_000135.4(FANCA):c.2222+1G>T	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1403268	NM_004304.5(ALK):c.4849C>T (p.Gln1617Ter)	ALK (Q549* +1 more)	Single nucleotide variant (nonsense)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1098898	NM_058216.3(RAD51C):c.522_523insC (p.Ala175fs)	RAD51C (A175fs)	Insertion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 1023715	NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn)	ERCC2 (D423N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1011649	NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu)	FANCM (S1709L +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 963726	NM_000222.3(KIT):c.1540+2T>C	KIT	Single nucleotide variant (splice donor variant +1 more)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 849931	NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)	CTNNA1 (R129* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 825619	NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter)	BRCA2 (Y1762*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 823679	NM_005732.4(RAD50):c.3372T>G (p.Tyr1124Ter)	RAD50 (Y1124*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 667391	NM_000057.4(BLM):c.98+1G>C	BLM	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 632697	NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)	BRCA2 (P2334fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 632402	NM_001184.4(ATR):c.2634-1G>A	ATR	Single nucleotide variant (splice acceptor variant)	Seckel syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 570962	NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr)	BRIP1 (D1138Y)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 570469	NM_007294.4(BRCA1):c.878C>G (p.Thr293Ser)	BRCA1 (T293S +19 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 531438	NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)	BRCA1 (G1788A +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 496384	NM_007294.4(BRCA1):c.4427A>C (p.Lys1476Thr)	BRCA1 (K1476T +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 492257	NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr)	PMS2 (S503Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 487410	NM_000059.4(BRCA2):c.6849del (p.Ser2284fs)	BRCA2 (S2284fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486235	NM_005732.4(RAD50):c.3137G>C (p.Gly1046Ala)	RAD50 (G1046A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 485251	NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser)	BAP1 (N446S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485170	NM_000051.4(ATM):c.680C>T (p.Ser227Leu)	ATM (S227L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 484753	NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg)	RAD51C (T5R)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GUncertain significance
Select item 483144	NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)	BRIP1 (N370S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 480299	NM_000535.7(PMS2):c.913C>G (p.Leu305Val)	PMS2 (L305V +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 480298	NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)	PMS2 (S587N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 479232	NM_007294.4(BRCA1):c.3941A>T (p.Asp1314Val)	BRCA1, LOC126862571 (D1314V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 478930	NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)	ATM, C11orf65 (S2218R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 462642	NM_007294.4(BRCA1):c.4265G>A (p.Gly1422Glu)	BRCA1 (G1422E +58 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 461046	NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)	BRIP1 (S1070fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +4 more	GLikely pathogenic
Select item 460951	NM_024675.4(PALB2):c.2641G>A (p.Gly881Ser)	PALB2 (G881S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 458446	NM_000553.6(WRN):c.3384-1G>A	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 457396	NM_005732.4(RAD50):c.2008A>G (p.Ile670Val)	RAD50 (I670V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 457366	NM_005732.4(RAD50):c.1202G>C (p.Arg401Thr)	RAD50 (R401T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 456236	NM_004629.2(FANCG):c.464G>A (p.Arg155His)	FANCG (R155H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 444327	NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)	FANCM (R658* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 438942	NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile)	BRCA1 (L1865I +80 more)	Indel (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 431183	NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)	BRCA1 (R296G +19 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 428393	NM_000179.3(MSH6):c.1767del (p.Pro591fs)	MSH6 (P591fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 428296	NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)	MSH6 (S1180* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 421781	NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)	BRCA1 (I591V +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 418577	NM_000136.3(FANCC):c.473C>T (p.Ala158Val)	FANCC (A158V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 410105	NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)	PALB2 (S461R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 409657	NM_000136.3(FANCC):c.455dup (p.Asn152fs)	FANCC (N152fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 408227	NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)	FANCL (S351fs +3 more)	Microsatellite (frameshift variant)	Fanconi anemia complementation group L +2 more	GConflicting classifications of pathogenicity
Select item 408170	NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)	FANCA, ZNF276 (R1409W +1 more)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 408095	NM_002691.4(POLD1):c.3305del (p.Pro1102fs)	POLD1 (P1102fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 407693	NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)	ATM (I1688V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 407573	NM_000051.4(ATM):c.1440A>T (p.Leu480Phe)	ATM (L480F)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 407499	NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	ATM (D1637G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 374724	NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)	BRCA2 (T2088I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 372089	NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)	RAD51C (K26M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 371055	NM_000057.4(BLM):c.98+1G>A	BLM	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 313202	NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro)	FANCM (R627P +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 313200	NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)	FANCM (R581C +1 more)	Single nucleotide variant (missense variant)	FANCM-related condition +5 more	GUncertain significance
Select item 279708	NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)	BRIP1 (N293S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 267617	NM_007294.4(BRCA1):c.671-2A>G	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 246424	NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)	PALB2 (P812L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 245958	NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile)	XRCC2 (L61I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group U +2 more	GConflicting classifications of pathogenicity
Select item 245791	NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)	ATM (Y1544C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GUncertain significance
Select item 241530	NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)	PALB2 (S488I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 239963	NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln)	FANCG (R485Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 237148	NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)	MSH6 (K646R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 236738	NM_000051.4(ATM):c.5443del (p.Asp1815fs)	ATM (D1815fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 236265	NM_007294.3(BRCA1):c.[594-2A>C;641A>G]	BRCA1 (D214G +11 more)	Single nucleotide variant (splice acceptor variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 234652	NM_000535.7(PMS2):c.353+1G>A	PMS2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 234265	NM_000051.4(ATM):c.3257G>A (p.Arg1086His)	ATM (R1086H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 234200	NM_000179.3(MSH6):c.1656T>A (p.His552Gln)	MSH6 (H552Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 234165	NM_005732.4(RAD50):c.3389+1G>A	RAD50	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 232950	NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)	BRIP1 (I952V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 232585	NM_000179.3(MSH6):c.667A>G (p.Asn223Asp)	MSH6 (N223D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 231972	NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter)	RAD51D, RAD51L3-RFFL (Q148* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 231708	NM_002485.5(NBN):c.361G>C (p.Asp121His)	NBN (D121H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 231356	NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)	ATM, C11orf65 (F2265L)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 230691	NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)	ATM (S1490G)	Single nucleotide variant (missense variant)	ATM-related condition +5 more	GUncertain significance
Select item 230500	NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp)	BRCA1 (E85D +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 230195	NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)	BRCA2 (A1233V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230150	NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)	BRCA1 (C328R +20 more)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia, complementation group S +7 more	GConflicting classifications of pathogenicity
Select item 229889	NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)	ATM, C11orf65 (L2490F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 229778	NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)	MUTYH (A227T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220784	NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)	MSH6 (D1112N +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 220614	NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)	ATM, C11orf65 (A2798D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 220550	NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	ATM, C11orf65	Microsatellite (frameshift variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 220112	NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)	PALB2 (K50T)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity

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