C2675520[trait identifier] AND "Division of Medical Genetics, Universi - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91803	NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)	BRCA2 (R118C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 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 55791	NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37830	NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	BRCA2 (Q1089fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37856	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37893	NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)	BRCA2 (A1439D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37974	NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)	BRCA2 (I1859V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 220500	NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)	BRCA2 (R2625K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 38126	NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 978775	NM_000059.4(BRCA2):c.9304G>T (p.Ala3102Ser)	BRCA2 (A3102S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance