C2675520[trait identifier] AND "Biesecker Lab/Clinical Genomics Sectio - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 38258	NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)	BRCA2 (K322Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +5 more	GBenign/Likely benign
Select item 41539	NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)	BRCA2 (C341F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GLikely benign
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 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41542	NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)	BRCA2 (I505T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37746	NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)	BRCA2 (G522R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41543	NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)	BRCA2 (T598A)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37768	NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)	BRCA2 (T630I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37770	NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	BRCA2 (P655R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37774	NM_000059.4(BRCA2):c.2092del (p.Leu698fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41544	NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)	BRCA2 (M784V)	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 41546	NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	BRCA2 (S1172L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41547	NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)	BRCA2 (I1188V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 41548	NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)	BRCA2 (G1194D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 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 41551	NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)	BRCA2 (E1593D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37950	NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)	BRCA2 (S1733F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37958	NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)	BRCA2 (G1771D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41553	NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37972	NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)	BRCA2 (I1851S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41556	NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)	BRCA2 (T1915M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 142787	NM_000059.4(BRCA2):c.6091dup (p.Thr2031fs)	BRCA2 (T2031fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41558	NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	BRCA2 (R2034C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41559	NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)	BRCA2 (R2108C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41560	NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)	BRCA2 (V2109I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +8 more	GConflicting classifications of pathogenicity
Select item 38039	NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)	BRCA2 (N2113S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41561	NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)	BRCA2 (H2116R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38070	NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)	BRCA2 (I2285V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 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 41563	NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)	BRCA2 (R2502C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 38102	NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)	BRCA2 (T2515I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41564	NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)	BRCA2 (A2717S)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
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 38149	NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38168	NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	BRCA2 (E2856A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +6 more	GConflicting classifications of pathogenicity
Select item 41568	NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)	BRCA2 (R2896H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 41570	NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	BRCA2 (A2951T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38193	NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)	BRCA2 (R2973C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41571	NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)	BRCA2 (E2981K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 38205	NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)	BRCA2 (T3013I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41572	NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)	BRCA2 (V3244I)	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)	BRCA2-related cancer predisposition	GBenign FDA Recognized database
Select item 37720	NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)	BRCA2 (T3371A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +12 more	GBenign/Likely benign
Select item 41540	NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)	BRCA2 (I3412V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign

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Items: 51