C2675520[trait identifier] AND "Pathway Genomics"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 52187	NM_000059.4(BRCA2):c.68-7T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 51694	NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)	BRCA2 (D156G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37986	NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)	BRCA2 (D189G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 156490	NM_000059.4(BRCA2):c.2138A>C (p.Gln713Pro)	BRCA2 (Q713P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 51249	NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)	BRCA2 (Q713L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 51379	NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	BRCA2	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37863	NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)	BRCA2 (C1290Y)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 37886	NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)	BRCA2 (Q1396R)	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 51648	NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)	BRCA2 (S1479T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 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 37910	NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)	BRCA2 (G1529R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 156491	NM_000059.4(BRCA2):c.5035A>G (p.Thr1679Ala)	BRCA2 (T1679A)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +2 more	GConflicting classifications of pathogenicity
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 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 37997	NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)	BRCA2 (I1929V)	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	GPathogenicFDA Recognized database
Select item 156492	NM_000059.4(BRCA2):c.5982A>T (p.Gln1994His)	BRCA2 (Q1994H)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
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 156489	NM_000059.4(BRCA2):c.6257T>C (p.Ile2086Thr)	BRCA2 (I2086T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 9318	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38037	NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)	BRCA2 (R2108H)	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 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 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 38081	NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)	BRCA2 (A2351G)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 52260	NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)	BRCA2 (G2353R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38086	NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)	BRCA2 (Q2384K)	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 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 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 192219	NM_000059.4(BRCA2):c.8087T>G (p.Leu2696Trp)	BRCA2 (L2696W)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition +2 more	GUncertain significance
Select item 41564	NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)	BRCA2 (A2717S)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GBenignFDA 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 156493	NM_000059.4(BRCA2):c.8423T>C (p.Leu2808Pro)	BRCA2 (L2808P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
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 9328	NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)	BRCA2 (E2846fs)	Microsatellite (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)	Breast and/or ovarian cancer +7 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 38266	NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	BRCA2 (K3326*)	Single nucleotide variant (nonsense)	BRCA2-related cancer predisposition	GBenignFDA Recognized database
Select item 125926	NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)	BRCA2 (S3366fs)	Indel (frameshift variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 51047	NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)	BRCA2 (T3374I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign

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Items: 46