ClinVar for PubMed (Select 14973102) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 580657	NM_000059.4(BRCA2):c.722A>G (p.Lys241Arg)	BRCA2 (K241R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 479374	NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)	BRCA2 (S2041T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 425132	NM_007294.4(BRCA1):c.252_254del (p.Glu85del)	BRCA1 (E85del +4 more)	Deletion (inframe_indel +2 more)	not provided +1 more	GUncertain significance
Select item 420655	NM_000059.4(BRCA2):c.6938-25_6938-19del	BRCA2	Deletion (intron variant)	not specified	GBenign/Likely benign
Select item 419387	NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)	BRCA2 (E3377D)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 409457	NM_000059.4(BRCA2):c.1389_1391del (p.Val465del)	BRCA2 (V465del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 234199	NM_000059.4(BRCA2):c.4505A>G (p.Gln1502Arg)	BRCA2 (Q1502R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 232058	NM_007294.4(BRCA1):c.344C>T (p.Pro115Leu)	BRCA1 (P115L +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 186319	NM_000059.4(BRCA2):c.8086T>C (p.Leu2696=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 184775	NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 184113	NM_000059.4(BRCA2):c.6771C>T (p.Pro2257=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 182097	NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 142428	NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)	BRCA1, LOC126862571 (A1199V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 96766	NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)	BRCA2 (H523R)	Single nucleotide variant (missense variant)	Cancer of the pancreas +7 more	GConflicting classifications of pathogenicity
Select item 55726	NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)	BRCA1 (G275D +19 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54887	NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)	BRCA1, LOC126862571 (P1150S +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54541	NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)	BRCA1 (I783V +20 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 54522	NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)	BRCA1 (R762S +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 54462	NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)	BRCA1 (N657fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54334	NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)	BRCA1 (E575K +20 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 52560	NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)	BRCA2 (A2786T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 52347	NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)	BRCA2 (G2508S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +8 more	GConflicting classifications of pathogenicity
Select item 52280	NM_000059.4(BRCA2):c.7182A>G (p.Arg2394=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 52019	NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)	BRCA2 (V2050I)	Single nucleotide variant (missense variant)	Breast neoplasm +12 more	GConflicting classifications of pathogenicity
Select item 51948	NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)	BRCA2 (S1946P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51694	NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)	BRCA2 (D156G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 51682	NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)	BRCA2 (K1533N)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 51644	NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	BRCA2 (Q147R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51530	NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)	BRCA2 (M1272V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51461	NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51246	NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)	BRCA2 (S708T)	Single nucleotide variant (missense variant)	Familial cancer of breast +11 more	GConflicting classifications of pathogenicity
Select item 51164	NM_000059.4(BRCA2):c.1644G>A (p.Gln548=)	BRCA2	Single nucleotide variant (synonymous 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)	BRCA2-related condition +8 more	GConflicting classifications of pathogenicity
Select item 38241	NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GBenign/Likely benign
Select item 38199	NM_000059.4(BRCA2):c.8954-5_8954-2del	BRCA2	Deletion (splice acceptor variant)	BRCA2-related condition +6 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 38038	NM_000059.4(BRCA2):c.6333_6337del (p.Arg2112fs)	BRCA2 (R2112fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37926	NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)	BRCA2 (I1607V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37898	NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)	BRCA2 (N1459S)	Single nucleotide variant (missense variant)	Invasive lobular breast carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 37713	NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn)	BRCA1 (D330N +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 42