C2675520[trait identifier] AND "University of Science and Technology H - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526276	NM_000059.4(BRCA2):c.67+14T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1526279	NM_000059.4(BRCA2):c.67+15T>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 1526281	NM_000059.4(BRCA2):c.68-21T>G	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 1526278	NM_000059.4(BRCA2):c.68-14T>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 51269	NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 1527836	NM_000059.4(BRCA2):c.1099G>A (p.Asp367Asn)	BRCA2 (D367N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (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 1527843	NM_000059.4(BRCA2):c.2636C>A (p.Ser879Tyr)	BRCA2 (S879Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 91782	NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)	BRCA2 (N886S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 1527840	NM_000059.4(BRCA2):c.2673C>G (p.Val891=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1527842	NM_000059.4(BRCA2):c.3037T>A (p.Ser1013Thr)	BRCA2 (S1013T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1527841	NM_000059.4(BRCA2):c.3555A>T (p.Thr1185=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GLikely benign
Select item 1526280	NM_000059.4(BRCA2):c.3868T>A (p.Cys1290Ser)	BRCA2 (C1290S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1040103	NM_000059.4(BRCA2):c.5428G>T (p.Val1810Phe)	BRCA2 (V1810F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1526282	NM_000059.4(BRCA2):c.5472T>G (p.Asn1824Lys)	BRCA2 (N1824K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184063	NM_000059.4(BRCA2):c.5553C>T (p.Ile1851=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1052269	NM_000059.4(BRCA2):c.5592C>A (p.Asp1864Glu)	BRCA2 (D1864E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
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 225746	NM_000059.4(BRCA2):c.5976A>G (p.Ser1992=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1526284	NM_000059.4(BRCA2):c.5985C>A (p.Asn1995Lys)	BRCA2 (N1995K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1675171	NM_000059.4(BRCA2):c.6346C>G (p.His2116Asp)	BRCA2 (H2116D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 252846	NM_000059.4(BRCA2):c.7654dup (p.Ile2552fs)	BRCA2 (I2552fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52600	NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)	BRCA2 (Q2829*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1526283	NM_000059.4(BRCA2):c.8487+19A>C	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 418600	NM_000059.4(BRCA2):c.8940del (p.Glu2981fs)	BRCA2 (E2981fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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Items: 26