C2675520[trait identifier] AND "Department of Human Genetics, Hannover - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 52161	NM_000059.4(BRCA2):c.67+1G>T	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3066187	NM_000059.4(BRCA2):c.133G>A (p.Glu45Lys)	BRCA2 (E45K)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 441317	NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)	BRCA2 (Q861*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266770	NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51516	NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)	BRCA2 (T1251fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3255361	NM_000059.4(BRCA2):c.3814del (p.Met1272fs)	BRCA2 (M1272fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 976078	NM_000059.4(BRCA2):c.4548del (p.Glu1518fs)	BRCA2 (E1518fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic/Likely pathogenic
Select item 51791	NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37954	NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)	BRCA2 (N1747*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	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)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 38076	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2 (R2318*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9340	NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	BRCA2 (T2722R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 571905	NM_000059.4(BRCA2):c.8863G>A (p.Ala2955Thr)	BRCA2 (A2955T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GUncertain significance
Select item 38196	NM_000059.4(BRCA2):c.8946dup (p.Asp2983fs)	BRCA2 (D2983fs)	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