C0677776[trait identifier] AND "German Consortium for Hereditary Breas - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89562	NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	MSH6 (A25S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +9 more	GConflicting classifications of pathogenicity
Select item 579690	NM_000465.4(BARD1):c.1569-7T>G	BARD1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 141739	NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)	BARD1 (N470S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 90367	NM_000249.4(MLH1):c.790C>T (p.His264Tyr)	MLH1 (H264Y +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +6 more	GUncertain significance
Select item 90382	NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)	MLH1 (E268G +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89605	NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	MLH1 (N338S +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 492274	NM_000535.7(PMS2):c.24-4C>G	PMS2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 453518	NM_000051.4(ATM):c.434T>G (p.Leu145Arg)	ATM (L145R)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1403476	NM_000051.4(ATM):c.1825G>A (p.Glu609Lys)	ATM (E609K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 184752	NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)	ATM (R692C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 453446	NM_000051.4(ATM):c.3077+8C>G	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 127385	NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)	ATM (Y1442H)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 449345	NM_000051.4(ATM):c.5497-2A>C	ATM	Single nucleotide variant (splice acceptor variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +8 more	GConflicting classifications of pathogenicity
Select item 127415	NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	ATM, C11orf65 (K1992T)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +8 more	GConflicting classifications of pathogenicity
Select item 187481	NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)	ATM, C11orf65 (Y2049D)	Single nucleotide variant (missense variant +1 more)	not specified +4 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)	Familial cancer of breast +4 more	GUncertain significance
Select item 37758	NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	BRCA2 (N60S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 441493	NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro)	BRCA2 (S93P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 142617	NM_000059.4(BRCA2):c.425+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51135	NM_000059.4(BRCA2):c.1499del (p.Gly500fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 462242	NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu)	BRCA2 (K549E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1787340	NM_000059.4(BRCA2):c.2186T>G (p.Ile729Arg)	BRCA2 (I729R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 427481	NM_000059.4(BRCA2):c.2364C>T (p.Gly788=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 266696	NM_000059.4(BRCA2):c.2399dup (p.Gly800_Asn801insTer)	BRCA2	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51355	NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)	BRCA2 (K944*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37828	NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)	BRCA2 (Q1073R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 37829	NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)	BRCA2 (P1088S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37830	NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	BRCA2 (Q1089fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51448	NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)	BRCA2 (T1104P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51630	NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)	BRCA2 (A1439T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 37904	NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37936	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2683738	NM_000059.4(BRCA2):c.4999T>A (p.Ser1667Thr)	BRCA2 (S1667T)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 37960	NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)	BRCA2 (N1784fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 187597	NM_000059.4(BRCA2):c.5496dup (p.Asn1833Ter)	BRCA2 (N1833*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 52035	NM_000059.4(BRCA2):c.6216del (p.Leu2073fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38029	NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)	BRCA2 (E2089fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266943	NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)	BRCA2 (E2129*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38047	NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)	BRCA2 (Q2157fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 619647	NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala)	BRCA2 (V2280A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 38076	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2 (R2318*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41563	NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)	BRCA2 (R2502C)	Single nucleotide variant (missense variant)	BRCA2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 141118	NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)	BRCA2 (W2626*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38131	NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	BRCA2 (R2659K)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GPathogenic/Likely pathogenic
Select item 1001575	NM_000059.4(BRCA2):c.8008T>C (p.Ser2670Pro)	BRCA2 (S2670P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 485412	NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)	BRCA2 (D2723N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 409493	NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)	BRCA2 (D2723E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 38157	NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)	BRCA2 (G2793E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 52582	NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)	BRCA2 (S2807L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 52742	NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)	BRCA2 (Q3026E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38208	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2 (T3033fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38225	NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	BRCA2 (T3085fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 574292	NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg)	BRCA2 (G3141R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 52888	NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2687483	NM_024675.4(PALB2):c.3327T>A (p.Cys1109Ter)	PALB2 (C1016* +8 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2687484	NM_024675.4(PALB2):c.2996+4A>G	PALB2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 126595	NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)	PALB2 (S417Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 126581	NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)	PALB2 (Y334C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 569340	NM_024675.4(PALB2):c.97G>C (p.Ala33Pro)	PALB2 (A33P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 127914	NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)	CDH1 (V473I +1 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 2683739	NM_000546.6(TP53):c.1040C>G (p.Ala347Gly)	TP53 (A188G +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2683741	NM_000546.6(TP53):c.1039del (p.Ala347fs)	TP53 (A188fs +3 more)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 142144	NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	TP53 (R174* +3 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 237956	NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	TP53 (R150Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 480961	NM_000546.6(TP53):c.738G>A (p.Met246Ile)	TP53 (M246I +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 245851	NM_000546.6(TP53):c.523C>T (p.Arg175Cys)	TP53 (R136C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 127812	NM_000546.6(TP53):c.472C>T (p.Arg158Cys)	TP53 (R119C +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 237946	NM_000546.6(TP53):c.283TCT[1] (p.Ser96del)	TP53 (S57del +1 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 142158	NM_000546.6(TP53):c.85AAC[1] (p.Asn30del)	TP53 (N30del)	Microsatellite (inframe_deletion +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 2683740	NM_002878.4(RAD51D):c.875T>C (p.Met292Thr)	RAD51D, RAD51L3-RFFL (M180T +2 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GUncertain significance
Select item 141519	NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)	RAD51D, RAD51L3-RFFL (R266C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 127893	NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	RAD51D, RAD51L3-RFFL (R232* +2 more)	Single nucleotide variant (nonsense +1 more)	Diffuse midline glioma, H3 K27-altered +5 more	GPathogenic/Likely pathogenic
Select item 492426	NM_002878.4(RAD51D):c.345G>A (p.Gln115=)	RAD51D, RAD51L3-RFFL	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 410548	NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser)	RAD51D, RAD51L3-RFFL (G68S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 420660	NM_002878.4(RAD51D):c.2T>G (p.Met1Arg)	RAD51D, RAD51L3-RFFL (M1R)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 125853	NM_007294.4(BRCA1):c.5467+9C>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 37672	NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)	BRCA1 (D1818G +80 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
Select item 55580	NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)	BRCA1 (W1815* +80 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 267600	NM_007294.4(BRCA1):c.5333-1G>T	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 55505	NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)	BRCA1 (F1761S +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 55500	NM_007294.4(BRCA1):c.5278-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55482	NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)	BRCA1 (R1751P +79 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 531399	NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)	BRCA1 (H1746D +79 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 867253	NM_007294.4(BRCA1):c.5228G>A (p.Gly1743Glu)	BRCA1 (G1743E +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 867858	NM_007294.4(BRCA1):c.5219T>G (p.Val1740Gly)	BRCA1 (V1693G +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 55449	NM_007294.4(BRCA1):c.5193+1del	BRCA1	Deletion (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 37644	NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	BRCA1 (R1747fs +3 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 491098	NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)	BRCA1 (S1722Y +79 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 55431	NM_007294.4(BRCA1):c.5153-2del	BRCA1	Deletion (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 37636	NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	BRCA1 (R1699Q +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2687489	NM_007294.4(BRCA1):c.5081_5086del (p.Glu1694_Phe1695del)	BRCA1	Deletion (inframe_deletion +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 55388	NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)	BRCA1 (F591fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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