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

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271584	NM_000508.5(FGA):c.2492A>G (p.Asn831Ser)	FGA (N831S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094589	NM_000508.5(FGA):c.2439A>C (p.Gln813His)	FGA (Q813H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094588	NM_000508.5(FGA):c.2393A>C (p.Asn798Thr)	FGA (N798T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385030	NM_000508.5(FGA):c.2340C>A (p.His780Gln)	FGA (H780Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212458	NM_000508.5(FGA):c.2323G>A (p.Ala775Thr)	FGA (A775T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2611623	NM_000508.5(FGA):c.2314G>A (p.Glu772Lys)	FGA (E772K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478126	NM_000508.5(FGA):c.2293G>A (p.Ala765Thr)	FGA (A765T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094587	NM_000508.5(FGA):c.2177T>C (p.Val726Ala)	FGA (V726A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330724	NM_000508.5(FGA):c.2159G>C (p.Arg720Thr)	FGA (R720T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620357	NM_000508.5(FGA):c.2149C>A (p.Leu717Ile)	FGA (L717I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510418	NM_000508.5(FGA):c.2051A>C (p.Asn684Thr)	FGA (N684T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468111	NM_000508.5(FGA):c.2018T>C (p.Leu673Pro)	FGA (L673P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466504	NM_000508.5(FGA):c.2007G>T (p.Leu669Phe)	FGA (L669F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3278574	NM_021871.4(FGA):c.1858A>G (p.Lys620Glu)	FGA (K620E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 347807	NM_021871.4(FGA):c.1838A>G (p.His613Arg)	FGA (H613R)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 347808	NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)	FGA (G608A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 2554435	NM_021871.4(FGA):c.1808T>A (p.Met603Lys)	FGA (M603K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094584	NM_021871.4(FGA):c.1607T>C (p.Met536Thr)	FGA (M536T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606356	NM_021871.4(FGA):c.1606A>G (p.Met536Val)	FGA (M536V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094583	NM_021871.4(FGA):c.1535G>T (p.Arg512Met)	FGA (R512M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299856	NM_021871.4(FGA):c.1474C>T (p.Pro492Ser)	FGA (P492S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 347811	NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)	FGA (D473N)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 3094582	NM_021871.4(FGA):c.1408A>G (p.Ile470Val)	FGA (I470V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381593	NM_021871.4(FGA):c.1082A>G (p.Asn361Ser)	FGA (N361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 900484	NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)	FGA (G358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3094581	NM_021871.4(FGA):c.1061C>G (p.Pro354Arg)	FGA (P354R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314801	NM_021871.4(FGA):c.1058G>C (p.Arg353Thr)	FGA (R353T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708400	NM_021871.4(FGA):c.1048G>A (p.Gly350Arg)	FGA (G350R)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 3094580	NM_021871.4(FGA):c.1010G>A (p.Gly337Glu)	FGA (G337E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 347813	NM_021871.4(FGA):c.919A>G (p.Asn307Asp)	FGA (N307D)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GUncertain significance
Select item 2494207	NM_021871.4(FGA):c.897C>A (p.Ser299Arg)	FGA (S299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489123	NM_021871.4(FGA):c.839G>A (p.Gly280Glu)	FGA (G280E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293451	NM_021871.4(FGA):c.784G>A (p.Glu262Lys)	FGA (E262K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2331287	NM_021871.4(FGA):c.763C>A (p.Pro255Thr)	FGA (P255T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518830	NM_021871.4(FGA):c.761T>C (p.Met254Thr)	FGA (M254T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287279	NM_021871.4(FGA):c.648A>T (p.Arg216Ser)	FGA (R216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094591	NM_021871.4(FGA):c.559G>A (p.Ala187Thr)	FGA (A187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094590	NM_021871.4(FGA):c.553A>G (p.Ser185Gly)	FGA (S185G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276577	NM_021871.4(FGA):c.528G>C (p.Lys176Asn)	FGA (K176N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708420	NM_021871.4(FGA):c.475G>A (p.Val159Ile)	FGA (V159I)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 347821	NM_021871.4(FGA):c.346G>A (p.Asp116Asn)	FGA (D116N)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +3 more	GUncertain significance
Select item 2474112	NM_021871.4(FGA):c.249C>A (p.Asn83Lys)	FGA (N83K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094586	NM_021871.4(FGA):c.206G>A (p.Arg69Lys)	FGA (R69K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3094585	NM_021871.4(FGA):c.183C>A (p.Asn61Lys)	FGA (N61K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678092	NM_021871.4(FGA):c.154T>A (p.Trp52Arg)	FGA (W52R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3278575	NM_021871.4(FGA):c.52T>C (p.Trp18Arg)	FGA (W18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 46