C2675520[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 37785	NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)	BRCA2 (F81I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 52053	NM_000059.4(BRCA2):c.631+2T>C	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 266756	NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter)	BRCA2 (Q1175*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 2137474	NM_000059.4(BRCA2):c.3897_3901del (p.Glu1299fs)	BRCA2 (E1299fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic/Likely pathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51687	NM_000059.4(BRCA2):c.4647_4650del (p.Lys1549fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37951	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Deletion (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)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52430	NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)	BRCA2 (I2627F)	Single nucleotide variant (missense variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 38208	NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	BRCA2 (T3033fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38233	NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	BRCA2 (N3124I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic