C0376358[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127854	NM_002485.5(NBN):c.1036G>A (p.Val346Met)	NBN (V346M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 161598	NM_002485.5(NBN):c.244A>G (p.Lys82Glu)	NBN (K82E)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 7844	NM_000314.8(PTEN):c.-765G>A	PTEN	Single nucleotide variant (5 prime UTR variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 189474	NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	PTEN (Y68H +1 more)	Single nucleotide variant (missense variant +1 more)	Glioma susceptibility 2 +7 more	GPathogenic/Likely pathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 189500	NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	PTEN (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 127696	NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)	PTEN (S305N +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GUncertain significance FDA Recognized database
Select item 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate +12 more	GPathogenic OOncogenic
Select item 818542	NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)	PTEN (H397Y +2 more)	Single nucleotide variant (missense variant)	Glioma susceptibility 2 +6 more	GUncertain significance
Select item 265575	NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)	ATM (Y1252*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate +4 more	GPathogenic/Likely pathogenic
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 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51269	NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37993	NM_000059.4(BRCA2):c.574_575del (p.Met192fs)	BRCA2 (M192fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51118	NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)	BRCA2 (K467*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37756	NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51221	NM_000059.4(BRCA2):c.1889del (p.Thr630fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 141283	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +11 more	GPathogenic/Likely pathogenic
Select item 51230	NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51257	NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)	BRCA2 (Q742*)	Single nucleotide variant (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 91775	NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)	BRCA2 (D777fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41545	NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)	BRCA2 (N991D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37819	NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)	BRCA2 (Q1037*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51435	NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37856	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51525	NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)	BRCA2 (S1262*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37867	NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)	BRCA2 (E1308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37890	NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)	BRCA2 (E1415*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 187127	NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)	BRCA2 (V1639fs)	Duplication (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 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51813	NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51823	NM_000059.4(BRCA2):c.5217_5224del	BRCA2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37954	NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)	BRCA2 (N1747*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37956	NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)	BRCA2 (S1764fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51892	NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	BRCA2 (K1872fs)	Microsatellite (frameshift variant)	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 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37999	NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51952	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2 (E1953*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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
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 38053	NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)	BRCA2 (N2189fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	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 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 52216	NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)	BRCA2 (F2293L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 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 38077	NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	BRCA2 (R2336H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52256	NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)	BRCA2 (A2351T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +12 more	GConflicting classifications of pathogenicity
Select item 52258	NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)	BRCA2 (P2352L)	Single nucleotide variant (missense variant)	Familial cancer of breast +11 more	GConflicting classifications of pathogenicity
Select item 41562	NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)	BRCA2 (H2440R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 231555	NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)	BRCA2 (E2476del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 52334	NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)	BRCA2 (S2483G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GUncertain significance
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 38099	NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)	BRCA2 (R2494*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96854	NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)	BRCA2 (T2542M)	Single nucleotide variant (missense variant)	Hereditary cancer +13 more	GConflicting classifications of pathogenicity
Select item 96855	NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)	BRCA2 (Y2543C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +13 more	GUncertain significance
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 38125	NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	BRCA2 (W2626C)	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)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 462460	NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)	BRCA2 (V2652M)	Single nucleotide variant (missense variant)	not specified +11 more	GUncertain significance
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 183981	NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)	BRCA2 (R2669S)	Single nucleotide variant (missense variant)	Medulloblastoma +10 more	GConflicting classifications of pathogenicity
Select item 52471	NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	BRCA2 (S2670L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GPathogenic/Likely pathogenic
Select item 52475	NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)	BRCA2 (I2675V)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
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 38149	NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 231812	NM_000059.4(BRCA2):c.8331+3A>C	BRCA2	Single nucleotide variant (intron variant)	Wilms tumor 1 +11 more	GUncertain significance
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 38164	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52609	NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)	BRCA2 (I2840V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 38177	NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)	BRCA2 (Q2893*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41569	NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)	BRCA2 (I2944F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38192	NM_000059.4(BRCA2):c.8904del (p.Val2969fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 185294	NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])	BRCA2	Deletion (inframe_deletion)	Breast-ovarian cancer, familial, susceptibility to, 2 +12 more	GConflicting classifications of pathogenicity
Select item 126201	NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)	BRCA2	Duplication (inframe_insertion)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 38215	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Single nucleotide variant (synonymous variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 38221	NM_000059.4(BRCA2):c.9235del (p.Val3079fs)	BRCA2	Deletion (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 91522	NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)	BRCA2 (Y3092F)	Single nucleotide variant (missense variant)	not specified +11 more	GUncertain significance
Select item 38229	NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)	BRCA2 (Y3098*)	Single nucleotide variant (nonsense)	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 52831	NM_000059.4(BRCA2):c.9403del	BRCA2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38240	NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)	BRCA2 (S3147fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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