C0040588[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51952	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2 (E1953*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52256	NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)	BRCA2 (A2351T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +12 more	GConflicting classifications of pathogenicity
Select item 96854	NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)	BRCA2 (T2542M)	Single nucleotide variant (missense variant)	Hereditary cancer +13 more	GConflicting classifications of pathogenicity
Select item 38215	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Single nucleotide variant (synonymous variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 126593	NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)	PALB2 (P4L)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 4738	NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	BRIP1 (R798*)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic/Likely pathogenic