"Gharavi Laboratory, Columbia University"[submitter] AND "BRCA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 125945	NM_000059.4(BRCA2):c.1408dup (p.Glu470fs)	BRCA2 (E470fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 231054	NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs)	BRCA2 (V875fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52250	NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)	BRCA2 (Q2342*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38164	NM_000059.4(BRCA2):c.8488-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	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 562471	NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)	BRCA2 (C3198fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic

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