"St. Jude Molecular Pathology, St. Jude Children's Research Hospital"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 409837	NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)	RAD51C (R12W)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 142534	NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)	RAD51C (Q33*)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GPathogenic
Select item 140940	NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)	RAD51C (E45G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2663993	NM_058216.3(RAD51C):c.572-1854_705+2812del	LOC129390903, RAD51C	Deletion (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 232604	NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)	LOC129390903, RAD51C (L219S)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 186543	NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	RAD51C (A308S)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 480498	NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 187061	NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)	RAD51C (R370Q)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GUncertain significance