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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1424808	NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)	FANCF, LOC130005443 (L350F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1374883	NM_022725.4(FANCF):c.1001C>T (p.Ala334Val)	FANCF, LOC130005443 (A334V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053615	NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)	FANCF, LOC130005443 (T331I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3277667	NM_022725.4(FANCF):c.830T>C (p.Leu277Pro)	FANCF (L277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1966001	NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)	FANCF (P272S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2530854	NM_022725.4(FANCF):c.752T>G (p.Phe251Cys)	FANCF (F251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092812	NM_022725.4(FANCF):c.667G>C (p.Glu223Gln)	FANCF (E223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092811	NM_022725.4(FANCF):c.666G>T (p.Leu222Phe)	FANCF (L222F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1037435	NM_022725.4(FANCF):c.656A>G (p.Gln219Arg)	FANCF (Q219R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1007553	NM_022725.4(FANCF):c.617C>T (p.Ala206Val)	FANCF (A206V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 3092810	NM_022725.4(FANCF):c.594G>C (p.Gln198His)	FANCF (Q198H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 456284	NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)	FANCF (S191R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +4 more	GConflicting classifications of pathogenicity
Select item 998327	NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)	FANCF (Y151F)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 3092808	NM_022725.4(FANCF):c.448G>A (p.Gly150Ser)	FANCF (G150S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303644	NM_022725.4(FANCF):c.389A>G (p.Gln130Arg)	FANCF (Q130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 970279	NM_022725.4(FANCF):c.364C>G (p.Arg122Gly)	FANCF (R122G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2357428	NM_022725.4(FANCF):c.355C>G (p.Pro119Ala)	FANCF (P119A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445791	NM_022725.4(FANCF):c.302G>C (p.Arg101Pro)	FANCF (R101P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 3277668	NM_022725.4(FANCF):c.182G>A (p.Arg61Gln)	FANCF (R61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534045	NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)	FANCF (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2364283	NM_022725.4(FANCF):c.95G>A (p.Arg32His)	FANCF (R32H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1056405	NM_022725.4(FANCF):c.89C>G (p.Thr30Ser)	FANCF (T30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2276428	NM_022725.4(FANCF):c.39G>C (p.Glu13Asp)	FANCF (E13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147930	NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)	FANCF (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 24