ClinVar for PubMed (Select 28767289) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2425327	NC_000016.9:g.(?_14038570)_(14038702_?)del	ERCC4	Deletion	Xeroderma pigmentosum, group F +2 more	GPathogenic
Select item 1788414	NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)	MLH1	Deletion (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 1728297	NM_002878.4(RAD51D):c.315T>G (p.Ile105Met)	RAD51D, RAD51L3-RFFL (I105M +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1514752	NM_017763.6(RNF43):c.508G>A (p.Glu170Lys)	RNF43 (E170K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470602	NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn)	ERCC4 (T719N)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 1416310	NM_024675.4(PALB2):c.1491T>A (p.Asn497Lys)	PALB2 (N497K)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 1398706	NM_018062.4(FANCL):c.208G>A (p.Val70Ile)	FANCL (V70I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1388082	NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu)	ERCC4 (D582E)	Single nucleotide variant (missense variant)	Cockayne syndrome +2 more	GUncertain significance
Select item 1023721	NM_000135.4(FANCA):c.1279A>G (p.Met427Val)	FANCA (M427V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1018645	NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)	FANCA, ZNF276 (V1369M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 967171	NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)	ERCC4 (L401F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 957810	NM_017763.6(RNF43):c.2294T>C (p.Leu765Pro)	RNF43 (L638P +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 956229	NM_000059.4(BRCA2):c.5530T>A (p.Phe1844Ile)	BRCA2 (F1844I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 929781	NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	FANCA (P1222L)	Single nucleotide variant (missense variant)	Premature ovarian failure +2 more	GConflicting classifications of pathogenicity
Select item 862067	NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)	FANCA (G115E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 859220	NM_017763.6(RNF43):c.640C>G (p.Leu214Val)	RNF43 (L214V +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 824523	NM_000179.3(MSH6):c.4031C>A (p.Thr1344Asn)	MSH6 (T1042N +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 822680	NM_000179.3(MSH6):c.3038A>G (p.Lys1013Arg)	MSH6 (K1013R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 820148	NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser)	PMS2 (N421S +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 818991	NM_004656.4(BAP1):c.1354C>T (p.Leu452Phe)	BAP1 (L452F)	Single nucleotide variant (missense variant)	BAP1-related tumor predisposition syndrome +2 more	GUncertain significance
Select item 813583	NM_005236.3(ERCC4):c.2219G>A (p.Arg740His)	ERCC4 (R740H)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +2 more	GUncertain significance
Select item 633132	NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)	BRCA2 (T2214I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 628149	NM_000059.4(BRCA2):c.275A>G (p.Gln92Arg)	BRCA2 (Q92R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 627661	NM_000179.3(MSH6):c.866G>A (p.Gly289Asp)	MSH6 (G289D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 576677	NM_002769.5(PRSS1):c.256C>T (p.Gln86Ter)	PRSS1, TRB (Q86*)	Single nucleotide variant (nonsense)	Hereditary pancreatitis	GUncertain significance
Select item 576395	NM_198253.3(TERT):c.2411G>T (p.Gly804Val)	TERT (G804V)	Single nucleotide variant (missense variant)	Idiopathic Pulmonary Fibrosis +2 more	GUncertain significance
Select item 526387	NM_000135.4(FANCA):c.2029G>A (p.Val677Met)	FANCA (V677M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 480243	NM_024675.4(PALB2):c.839del (p.Asn280fs)	PALB2 (N280fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 474207	NM_005236.3(ERCC4):c.532G>T (p.Val178Leu)	ERCC4 (V178L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 474205	NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)	ERCC4 (A109T)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +5 more	GConflicting classifications of pathogenicity
Select item 461149	NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)	BRIP1 (T113I)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 456243	NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)	FANCL (R68P)	Single nucleotide variant (missense variant)	FANCL-related condition +3 more	GConflicting classifications of pathogenicity
Select item 456125	NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)	FANCA, ZNF276 (R1321H)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group A +2 more	GConflicting classifications of pathogenicity
Select item 431193	NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)	BRCA2 (K2188E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 421287	NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys)	PALB2 (N497K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 412401	NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu)	BAP1 (Q590L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 409862	NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs)	RAD51C (S353fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 409651	NM_000136.3(FANCC):c.620A>T (p.His207Leu)	AOPEP, FANCC (H207L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 408185	NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	FANCA (T126R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 407876	NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)	BRIP1 (I902T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 403797	NM_000455.5(STK11):c.43G>A (p.Gly15Ser)	STK11 (G15S)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +1 more	GUncertain significance
Select item 321369	NM_000135.4(FANCA):c.577C>G (p.Leu193Val)	FANCA (L193V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 321329	NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)	FANCA, ZNF276 (R1317Q)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321326	NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)	FANCA, ZNF276 (R1425H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 317816	NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser)	ERCC4 (R576S)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group F +3 more	GUncertain significance
Select item 241553	NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)	PALB2 (L947S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 237365	NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)	MSH2 (A434V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 233535	NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)	BRCA2 (M1149I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 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 229938	NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala)	BRIP1 (E262A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 220016	NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys)	AOPEP, FANCC (R535C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 216325	NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)	MSH6 (G32C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 216258	NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)	BRCA2 (Q2561R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 188901	NM_000051.4(ATM):c.3G>A (p.Met1Ile)	ATM (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 186989	NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)	BRIP1 (I1191V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +6 more	GConflicting classifications of pathogenicity
Select item 186828	NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	RAD51C (L297P)	Single nucleotide variant (missense variant +1 more)	RAD51C-related condition +5 more	GConflicting classifications of pathogenicity
Select item 186793	NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)	BRIP1 (V972I)	Single nucleotide variant (missense variant)	Neoplasm of ovary +4 more	GUncertain significance
Select item 186516	NM_000051.4(ATM):c.6228del (p.Leu2077fs)	ATM, C11orf65 (L2077fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 186361	NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)	MSH6 (R1076H +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 186242	NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	ATM, C11orf65 (F2799fs)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 182856	NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)	RAD51D, RAD51L3-RFFL (C119R +1 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 182792	NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)	PALB2 (E13K)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 182790	NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)	PALB2 (D498Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182785	NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)	PALB2 (R196K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182476	NM_000136.3(FANCC):c.767A>G (p.His256Arg)	AOPEP, FANCC (H256R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 182472	NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	AOPEP, FANCC (R185Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 142908	NM_000051.4(ATM):c.5396del (p.Ser1799fs)	ATM (S1799fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 142897	NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)	MSH6 (T716I +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 142458	NM_032043.3(BRIP1):c.317G>A (p.Arg106His)	BRIP1 (R106H)	Single nucleotide variant (missense variant)	BRIP1-related condition +8 more	GConflicting classifications of pathogenicity
Select item 142358	NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys)	BRIP1 (Y548C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142346	NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)	BRIP1 (I782V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 142328	NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)	PALB2 (S873R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142320	NM_000546.6(TP53):c.542G>A (p.Arg181His)	TP53 (R142H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142313	NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)	BRCA2 (I1846V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 142285	NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)	CDH1 (P373L)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 142187	NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	ATM, C11orf65 (R3008C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 142070	NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser)	PALB2 (T983S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 141726	NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	ATM, C11orf65 (Q2729*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 141160	NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)	CDH1 (Y663C +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 140945	NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del)	BRIP1 (C88del)	Microsatellite (inframe_deletion)	BRIP1-related condition +4 more	GUncertain significance
Select item 140819	NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	BRIP1 (R1035C)	Single nucleotide variant (missense variant)	BRIP1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 136158	NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)	RAD51C (M136I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 135846	NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)	MLH1 (R423K +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 135835	NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)	MSH6 (I795T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 135167	NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)	RECQL4 (R372T)	Single nucleotide variant (missense variant)	RECQL4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 135133	NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)	RECQL4 (R623H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 134855	NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)	MSH6 (V1078A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 134365	NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)	FANCG (W122C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134299	NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	FANCC, AOPEP (G472R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 134158	NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	ERCC4 (R576T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group Q +7 more	GConflicting classifications of pathogenicity
Select item 134142	NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	ERCC4 (I706T)	Single nucleotide variant (missense variant)	Cockayne syndrome +8 more	GConflicting classifications of pathogenicity
Select item 128210	NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	RAD51C (L262V)	Single nucleotide variant (missense variant +1 more)	RAD51C-related condition +7 more	GConflicting classifications of pathogenicity
Select item 128173	NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)	BRIP1 (R823S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +4 more	GUncertain significance
Select item 128162	NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	BRIP1 (R579C)	Single nucleotide variant (missense variant)	BRIP1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 128158	NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)	BRIP1 (G481C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 128153	NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	BRIP1 (R419W)	Single nucleotide variant (missense variant)	BRIP1-related condition +8 more	GConflicting classifications of pathogenicity
Select item 127960	NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)	XRCC2 (E207G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group U +4 more	GConflicting classifications of pathogenicity
Select item 127954	NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)	XRCC2 (I95V)	Single nucleotide variant (missense variant)	XRCC2-related condition +4 more	GConflicting classifications of pathogenicity

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