ClinVar for PubMed (Select 18607349) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2998939	NM_000059.4(BRCA2):c.9805dup (p.Arg3269fs)	BRCA2 (R3269fs +4 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2756454	NM_000059.4(BRCA2):c.9902del (p.Pro3301fs)	BRCA2 (P1162fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2700032	NM_000059.4(BRCA2):c.9766G>T (p.Glu3256Ter)	BRCA2 (E1612* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2422271	NC_000013.10:g.(?_32953434)_(32972907_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2422270	NC_000013.10:g.(?_32944519)_(32972907_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2422269	NC_000013.10:g.(?_32906389)_(32972907_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2127883	NM_000059.4(BRCA2):c.9709_9713del (p.Arg3237fs)	BRCA2 (R3237fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2022368	NM_000059.4(BRCA2):c.9756_9759dup (p.Lys3254delinsLeuTer)	BRCA2	Duplication (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2021274	NM_000059.4(BRCA2):c.9697del (p.Cys3233fs)	BRCA2 (C3233fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2011249	NM_000059.4(BRCA2):c.9774_9775del (p.Glu3258fs)	BRCA2 (E3258fs)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1459464	NC_000013.10:g.(?_32950787)_(32972907_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1451757	NM_000059.4(BRCA2):c.9616C>T (p.Gln3206Ter)	BRCA2 (Q3206*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1451628	NM_000059.4(BRCA2):c.9836dup (p.Leu3279fs)	BRCA2 (L3279fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1076700	NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)	BRCA2 (C3233*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1076214	NC_000013.10:g.(?_32971029)_(32972913_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1074101	NC_000013.10:g.(?_32910382)_(32972907_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1069551	NM_000059.4(BRCA2):c.9690_9696del (p.Leu3230fs)	BRCA2 (L3230fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 988390	NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs)	BRCA2 (R3268fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 969748	NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs)	BRCA2 (T3195fs)	Indel (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 948842	NM_000059.4(BRCA2):c.9855del (p.Ile3286fs)	BRCA2 (I3286fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 941851	NM_000059.4(BRCA2):c.9595_9596dup (p.Ser3200fs)	BRCA2 (S3200fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 937072	NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter)	BRCA2 (Y3226*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 832104	NC_000013.11:g.(?_32398142)_(32398790_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 831521	NC_000013.11:g.(?_32398142)_(32398770_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 823404	NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)	BRCA2 (S3231*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 667416	NM_000059.4(BRCA2):c.9777del (p.Ile3259fs)	BRCA2 (I3259fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 655404	NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs)	BRCA2 (Y3225fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 655215	NC_000013.11:g.(?_32370936)_(32398790_?)del	BRCA2, LOC112163653 +1 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 652968	NC_000013.11:g.(?_32329423)_(32398790_?)del	BRCA2, LOC112163653 +1 more	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 639735	NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)	BRCA2 (E3223*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 632692	NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)	BRCA2 (K3257fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 582595	NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)	BRCA2 (K3236*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 562471	NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)	BRCA2 (C3198fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 545487	NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)	BRCA2 (T2722I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 531239	NM_000059.4(BRCA2):c.9887del (p.Lys3296fs)	BRCA2 (K3296fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 518256	NM_000059.4(BRCA2):c.9649-1G>T	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 491394	NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs)	BRCA2 (D3272fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 485412	NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)	BRCA2 (D2723N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 479367	NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala)	BRCA2 (T2722A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 462540	NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)	BRCA2 (Q3299*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 421372	NM_000059.4(BRCA2):c.9633dup (p.Gly3212fs)	BRCA2 (G3212fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267176	NM_000059.4(BRCA2):c.9871del (p.Ser3291fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267174	NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)	BRCA2 (L3279*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267172	NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267171	NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)	BRCA2 (S3250fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 254636	NM_000059.4(BRCA2):c.9689del (p.Leu3230fs)	BRCA2 (L3230fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 230821	NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)	BRCA2 (T2722K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 182326	NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	BRCA2 (Q3299fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182265	NM_000059.4(BRCA2):c.9648+1G>C	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 141469	NM_000059.4(BRCA2):c.9770_9773del (p.Lys3257fs)	BRCA2 (K3257fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126217	NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	BRCA2 (Y3225fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91535	NM_000059.4(BRCA2):c.9824del (p.Ser3275fs)	BRCA2 (S3275fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91534	NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 91530	NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52919	NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)	BRCA2 (E3309*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance FDA Recognized database
Select item 52916	NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)	BRCA2 (Y3308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52911	NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)	BRCA2 (Q3295*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52909	NM_000059.4(BRCA2):c.9868del (p.Val3290fs)	BRCA2 (V3290fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52889	NM_000059.4(BRCA2):c.9676del (p.Tyr3226fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52849	NM_000059.4(BRCA2):c.9498del (p.Glu3167fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52763	NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)	BRCA2 (R3052W)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52516	NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)	BRCA2 (D2723A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	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 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 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 52461	NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)	BRCA2 (E2663K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 51814	NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)	BRCA2 (R18fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41565	NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)	BRCA2 (V2728I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41549	NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)	BRCA2 (D1420Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 38266	NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	BRCA2 (K3326*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign FDA Recognized database
Select item 38260	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic FDA Recognized database
Select item 38217	NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)	BRCA2 (R3052Q)	Single nucleotide variant (missense variant)	BRCA2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 38180	NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)	BRCA2 (G2901D)	Single nucleotide variant (missense variant)	BRCA2-related condition +5 more	GBenign/Likely benign
Select item 38168	NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	BRCA2 (E2856A)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 38141	NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)	BRCA2 (D2723G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37734	NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)	BRCA2 (Y42C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9340	NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	BRCA2 (T2722R)	Single nucleotide variant (missense variant)	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

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Items: 80