C1838457[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51684	NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52870	NM_000059.4(BRCA2):c.956dup (p.Asn319fs)	BRCA2 (N319fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 142547	NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)	BRCA2 (S489C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 37763	NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 234566	NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)	BRCA2 (N802S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +10 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 51403	NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)	BRCA2 (E1046G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51525	NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)	BRCA2 (S1262*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 949451	NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)	BRCA2 (M1272I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37897	NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)	BRCA2 (K1453E)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 37913	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	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 234503	NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)	BRCA2 (N1742I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 37959	NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	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 232197	NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)	BRCA2 (H2116L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 52266	NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)	BRCA2 (E2364K)	Single nucleotide variant (missense variant)	BRCA2-related disorder +6 more	GUncertain significance
Select item 52440	NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)	BRCA2 (R2645fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38132	NM_000059.4(BRCA2):c.7977-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 279706	NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)	BRCA2 (S2705G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 52603	NM_000059.4(BRCA2):c.8487+3A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 462490	NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)	BRCA2 (T2891R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance

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Items: 27