"deCODE genetics, Amgen"[submitter] AND "BRCA2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574093	NM_000059.4(BRCA2):c.607_610dup (p.Leu204fs)	BRCA2 (L204fs +1 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 9326	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2574053	NM_000059.4(BRCA2):c.1125del (p.Phe376fs)	BRCA2 (F376fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 51154	NM_000059.4(BRCA2):c.1599_1600del (p.Glu534fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 141199	NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)	BRCA2 (S973*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51584	NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 254556	NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)	BRCA2 (G1761*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2574094	NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)	BRCA2 (G2281* +1 more)	Single nucleotide variant (nonsense +3 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 266983	NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)	BRCA2 (Q2345*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38225	NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	BRCA2 (T3085fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	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