C2675520[trait identifier] AND "Institute of Immunology and Genetics K - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366959	NM_000059.4(BRCA2):c.750_771del (p.Thr251fs)	BRCA2 (T128fs +1 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 37766	NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)	BRCA2 (S617*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51322	NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51421	NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51954	NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	BRCA2 (S1955*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 182233	NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)	BRCA2 (E2258K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38100	NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)	BRCA2 (R2500T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 96861	NM_000059.4(BRCA2):c.7897G>T (p.Ala2633Ser)	BRCA2 (A2633S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance