"GeneKor MSA"[submitter] AND "RAD51L3-RFFL"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322623	NM_002878.4(RAD51D):c.933T>G (p.Ile311Met)	RAD51D, RAD51L3-RFFL (I311M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127896	NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)	RAD51L3-RFFL, RAD51D (I311N +2 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +6 more	GConflicting classifications of pathogenicity
Select item 584560	NM_002878.4(RAD51D):c.931A>G (p.Ile311Val)	RAD51D, RAD51L3-RFFL (I311V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 141519	NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)	RAD51D, RAD51L3-RFFL (R266C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 492444	NM_002878.4(RAD51D):c.784C>A (p.Pro262Thr)	RAD51D, RAD51L3-RFFL (P262T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +2 more	GUncertain significance
Select item 480538	NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp)	RAD51D, RAD51L3-RFFL (S207W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 127891	NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)	RAD51D, RAD51L3-RFFL (R165W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +4 more	GUncertain significance
Select item 127890	NM_002878.4(RAD51D):c.493C>G (p.Arg165Gly)	RAD51D, RAD51L3-RFFL (R165G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 127889	NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)	RAD51D, RAD51L3-RFFL (N138S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127888	NM_002878.4(RAD51D):c.412A>C (p.Asn138His)	RAD51L3-RFFL, RAD51D (N138H +1 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +3 more	GConflicting classifications of pathogenicity
Select item 185178	NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)	RAD51D, RAD51L3-RFFL (V132I +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 584559	NM_002878.4(RAD51D):c.270T>A (p.Asp90Glu)	RAD51D, RAD51L3-RFFL (D90E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 230266	NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln)	RAD51D, RAD51L3-RFFL (R55Q)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance