ClinVar for PubMed (Select 15695382) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1051066	NM_000059.4(BRCA2):c.8723_8724delinsGT (p.Val2908Gly)	BRCA2 (V2908G)	Indel (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
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 52662	NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)	BRCA2 (V2908G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
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 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 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 38131	NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	BRCA2 (R2659K)	Single nucleotide variant (missense variant)	BRCA2-related condition +5 more	GPathogenic/Likely pathogenic
Select item 38130	NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)	BRCA2 (R2659G)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37883	NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)	BRCA2 (E1382del)	Microsatellite (inframe_deletion)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37738	NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)	BRCA2 (E462G)	Single nucleotide variant (missense 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 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