ClinVar for MedGen (Select 461896) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2137474	NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)	BRCA2 (E1299fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1456139	NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)	BRCA2 (L1598fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +8 more	GPathogenic
Select item 1171246	NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)	BRCA2 (E1812K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 845197	NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile)	BRCA2 (T656I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 663831	NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)	BRCA2 (D750V)	Single nucleotide variant (missense variant)	Medulloblastoma +9 more	GConflicting classifications of pathogenicity
Select item 632715	NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)	BRCA2 (S1437T)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 576367	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2 (L204fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +10 more	GPathogenic/Likely pathogenic
Select item 570422	NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)	BRCA2 (G1007V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 549717	NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)	BRCA2 (T2388I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 531316	NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)	BRCA2 (F506S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 531308	NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)	BRCA2 (L1466I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +9 more	GConflicting classifications of pathogenicity
Select item 481559	NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)	BRCA2 (N3099D)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GUncertain significance
Select item 462460	NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)	BRCA2 (V2652M)	Single nucleotide variant (missense variant)	Familial cancer of breast +11 more	GUncertain significance
Select item 462246	NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)	BRCA2 (D635E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +9 more	GConflicting classifications of pathogenicity
Select item 441448	NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)	BRCA2 (E2565K)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 427477	NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 421342	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 409549	NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)	BRCA2 (I2177T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +9 more	GConflicting classifications of pathogenicity
Select item 385943	NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)	BRCA2	Single nucleotide variant (synonymous variant)	not specified +10 more	GLikely benign
Select item 267696	NM_000059.4(BRCA2):c.8332-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +7 more	GPathogenic
Select item 234566	NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)	BRCA2 (N802S)	Single nucleotide variant (missense variant)	Familial cancer of breast +10 more	GConflicting classifications of pathogenicity
Select item 234138	NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)	BRCA2 (K2594R)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 233187	NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)	BRCA2 (I2454F)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 233024	NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)	BRCA2 (K169Q)	Single nucleotide variant (missense variant)	Wilms tumor 1 +9 more	GUncertain significance
Select item 231812	NM_000059.4(BRCA2):c.8331+3A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GUncertain significance
Select item 231555	NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)	BRCA2 (E2476del)	Microsatellite (inframe_deletion)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 231512	NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)	BRCA2 (T1609A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 231069	NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)	BRCA2 (V1270I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 230066	NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)	BRCA2 (E3177G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GUncertain significance
Select item 229735	NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 219757	NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 215608	NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 187437	NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)	BRCA2 (L428I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 187129	NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)	BRCA2 (S744L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 187127	NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)	BRCA2 (V1639fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 186936	NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)	BRCA2 (L1740F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 186629	NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)	BRCA2 (K2232I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 186066	NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 185294	NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])	BRCA2	Deletion (inframe_deletion)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 184036	NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 183981	NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)	BRCA2 (R2669S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 182304	NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 182247	NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)	BRCA2 (I2664M)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +12 more	GConflicting classifications of pathogenicity
Select item 142005	NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)	BRCA2 (R2273K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 141853	NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)	BRCA2 (S1744I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 141793	NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)	BRCA2 (H334R)	Single nucleotide variant (missense variant)	Wilms tumor 1 +10 more	GConflicting classifications of pathogenicity
Select item 141509	NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 141457	NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)	BRCA2 (D2005Y)	Single nucleotide variant (missense variant)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 141283	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 141099	NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)	BRCA2 (N3024T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +9 more	GUncertain significance
Select item 132781	NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 126201	NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)	BRCA2	Duplication (inframe_insertion)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 126045	NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)	BRCA2 (E1493G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 126037	NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)	BRCA2 (T1378*)	Insertion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 125947	NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)	BRCA2 (K513R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 96855	NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)	BRCA2 (Y2543C)	Single nucleotide variant (missense variant)	BRCA2-related condition +13 more	GUncertain significance
Select item 96854	NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)	BRCA2 (T2542M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +12 more	GConflicting classifications of pathogenicity
Select item 96852	NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	BRCA2 (I2490T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 96840	NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)	BRCA2 (I2209T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +10 more	GConflicting classifications of pathogenicity
Select item 96828	NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)	BRCA2 (H1916R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 96780	NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)	BRCA2 (I729T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +13 more	GConflicting classifications of pathogenicity
Select item 96764	NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)	BRCA2 (T478K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 96761	NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)	BRCA2 (K382N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +10 more	GConflicting classifications of pathogenicity
Select item 91822	NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91782	NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)	BRCA2 (N886S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 91750	NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)	BRCA2 (R435K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 91522	NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)	BRCA2 (Y3092F)	Single nucleotide variant (missense variant)	Familial cancer of breast +11 more	GUncertain significance
Select item 91519	NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)	BRCA2 (K3084fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91496	NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)	BRCA2 (N2622S)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 91430	NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)	BRCA2 (V1988I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 52865	NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)	BRCA2 (L3180F)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 52831	NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)	BRCA2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52826	NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	BRCA2 (R3128*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52808	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2 (W31*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52779	NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)	BRCA2 (D3073G)	Single nucleotide variant (missense variant)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 52684	NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52606	NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)	BRCA2 (S2835P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52594	NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52553	NM_000059.4(BRCA2):c.8332-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Wilms tumor 1 +8 more	GPathogenic/Likely pathogenic
Select item 52515	NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)	BRCA2 (D2723H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52475	NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)	BRCA2 (I2675V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 52471	NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	BRCA2 (S2670L)	Single nucleotide variant (missense variant)	Familial cancer of breast +11 more	GPathogenic/Likely pathogenic
Select item 52462	NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)	BRCA2 (E2663V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52430	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	BRCA2 (I2627F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 52364	NM_000059.4(BRCA2):c.7617+2T>G	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52334	NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)	BRCA2 (S2483G)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 52258	NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)	BRCA2 (P2352L)	Single nucleotide variant (missense variant)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 52256	NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)	BRCA2 (A2351T)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 52249	NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	BRCA2 (K2339N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52247	NM_000059.4(BRCA2):c.7008-62A>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52220	NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)	BRCA2 (D2312V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 52216	NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)	BRCA2 (F2293L)	Single nucleotide variant (missense variant)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 52201	NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)	BRCA2 (P2276T)	Single nucleotide variant (missense variant)	Wilms tumor 1 +9 more	GConflicting classifications of pathogenicity
Select item 52165	NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)	BRCA2 (E2236K)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 52149	NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)	BRCA2 (S2219*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52131	NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52102	NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52019	NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)	BRCA2 (V2050I)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 51954	NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	BRCA2 (S1955*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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