"Ambry Genetics"[submitter] AND "RFFL"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153374	NM_001017368.2(RFFL):c.1017G>C (p.Lys339Asn)	RAD51L3-RFFL, RFFL (K339N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332079	NM_001017368.2(RFFL):c.939G>T (p.Glu313Asp)	RAD51L3-RFFL, RFFL (E313D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313863	NM_001017368.2(RFFL):c.922C>T (p.Pro308Ser)	RAD51L3-RFFL, RFFL (P308S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313862	NM_001017368.2(RFFL):c.838G>C (p.Glu280Gln)	RAD51L3-RFFL, RFFL (E280Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275677	NM_001017368.2(RFFL):c.766C>T (p.Arg256Trp)	RAD51L3-RFFL, RFFL (R256W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2482353	NM_001017368.2(RFFL):c.731T>G (p.Leu244Arg)	RAD51L3-RFFL, RFFL (L244R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153379	NM_001017368.2(RFFL):c.710G>A (p.Arg237Gln)	RAD51L3-RFFL, RFFL (R237Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153378	NM_001017368.2(RFFL):c.641G>A (p.Ser214Asn)	RAD51L3-RFFL, RFFL (S214N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391398	NM_001017368.2(RFFL):c.602A>G (p.His201Arg)	RAD51L3-RFFL, RFFL (H201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342156	NM_001017368.2(RFFL):c.596A>G (p.Asn199Ser)	RAD51L3-RFFL, RFFL (N199S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234212	NM_001017368.2(RFFL):c.569C>T (p.Ala190Val)	RAD51L3-RFFL, RFFL (A190V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153377	NM_001017368.2(RFFL):c.466C>A (p.Pro156Thr)	RAD51L3-RFFL, RFFL (P156T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313864	NM_001017368.2(RFFL):c.436A>G (p.Thr146Ala)	RAD51L3-RFFL, RFFL (T146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389324	NM_001017368.2(RFFL):c.371G>A (p.Arg124Gln)	RAD51L3-RFFL, RFFL (R124Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515031	NM_001017368.2(RFFL):c.283G>T (p.Ala95Ser)	RAD51L3-RFFL, RFFL (A95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376097	NM_001017368.2(RFFL):c.275G>A (p.Arg92Gln)	RAD51L3-RFFL, RFFL (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153376	NM_001017368.2(RFFL):c.232G>A (p.Val78Ile)	RAD51L3-RFFL, RFFL (V78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465645	NM_001017368.2(RFFL):c.207T>A (p.Asn69Lys)	RAD51L3-RFFL, RFFL (N69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340288	NM_001017368.2(RFFL):c.175A>G (p.Arg59Gly)	RAD51L3-RFFL, RFFL (R59G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607794	NM_001017368.2(RFFL):c.134C>A (p.Pro45Gln)	RAD51L3-RFFL, RFFL (P45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153375	NM_001017368.2(RFFL):c.125G>A (p.Gly42Asp)	RAD51L3-RFFL, RFFL (G42D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21