"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "FGA"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380987	NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)	FGA (Y579*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 16410	NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	FGA (E545V)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +3 more	GPathogenic
Select item 3379563	NM_021871.4(FGA):c.1456G>A (p.Glu486Lys)	FGA (E486K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683308	NM_021871.4(FGA):c.1452del (p.Ser485fs)	FGA (S485fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 16405	NM_000508.3(FGA):c.1358G>A (p.Ser453Asn)	FGA (S453N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379564	NM_021871.4(FGA):c.1121C>A (p.Thr374Asn)	FGA (T374N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684487	NM_021871.4(FGA):c.1055del (p.Pro352fs)	FGA (P352fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3380988	NM_021871.4(FGA):c.1037del (p.Asn346fs)	FGA (N346fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 16420	NM_021871.4(FGA):c.991A>G (p.Thr331Ala)	FGA (T331A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +3 more	GConflicting classifications of pathogenicity
Select item 3379565	NM_021871.4(FGA):c.389T>C (p.Val130Ala)	FGA (V130A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379566	NM_021871.4(FGA):c.368G>A (p.Arg123His)	FGA (R123H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683312	NM_021871.4(FGA):c.163T>C (p.Cys55Arg)	FGA (C55R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 16402	NM_000508.3(FGA):c.112A>G (p.Arg38Gly)	FGA (R38G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 16404	NM_021871.4(FGA):c.104G>A (p.Arg35His)	FGA (R35H)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +5 more	GPathogenic
Select item 16399	NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	FGA (R35C)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +1 more	GPathogenic
Select item 16398	NM_000508.3(FGA):c.92G>T (p.Gly31Val)	FGA (G31V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic