"Center of Medical Genetics and Primary Health Care"[submitter] AND "B - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51926	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2 (M192fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51121	NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)	BRCA2 (Q472*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51139	NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	BRCA2 (E510*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 236835	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2 (Q699*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 834050	NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu)	BRCA2 (V875L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 690293	NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)	BRCA2 (D878H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 51584	NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 418759	NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs)	BRCA2 (K1517fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 546002	NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)	BRCA2 (L1669*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 52050	NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52388	NM_000059.4(BRCA2):c.7689del (p.His2563fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52562	NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)	BRCA2 (R2787C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 91733	NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)	BRCA2 (D2900V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 441405	NM_000059.4(BRCA2):c.8851G>T (p.Ala2951Ser)	BRCA2 (A2951S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 41570	NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)	BRCA2 (A2951T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
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 52785	NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38251	NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)	BRCA2 (K3196E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 38266	NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)	BRCA2 (K3326*)	Single nucleotide variant (nonsense)	BRCA2-related cancer predisposition	GBenign FDA Recognized database

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Items: 20