"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37776	NM_000059.4(BRCA2):c.2175dup (p.Val726fs)	BRCA2 (V726fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51315	NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)	BRCA2 (S871*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 182196	NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)	BRCA2 (K1058*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51892	NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	BRCA2 (K1872fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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
Select item 617895	NM_000059.4(BRCA2):c.8218_8222del (p.Leu2740fs)	BRCA2 (L2740fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 38229	NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)	BRCA2 (Y3098*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38228	NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)	BRCA2 (Y3098*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic