"GeneDx"[submitter] AND "FGA"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1252841	NM_000508.5(FGA):c.*328C>T	FGA	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 256327	NM_000508.5(FGA):c.7_34dup	FGA	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 256329	NM_000508.5(FGA):c.2586C>T (p.Pro862=)	FGA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1309523	NM_000508.5(FGA):c.2414G>C (p.Gly805Ala)	FGA (G805A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369493	NM_021871.4(FGA):c.1904C>A (p.Ser635Tyr)	FGA (S635Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 16408	NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)	FGA (R573L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817156	NM_021871.4(FGA):c.1113del (p.His372fs)	FGA (H372fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 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 1247674	NM_021871.4(FGA):c.510+60G>A	FGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268821	NM_021871.4(FGA):c.510+37C>T	FGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16415	NM_021871.4(FGA):c.510+1G>T	FGA	Single nucleotide variant (splice donor variant)	Familial dysfibrinogenemia +4 more	GPathogenic
Select item 1303212	NM_021871.4(FGA):c.431_432del (p.Lys144fs)	FGA (K144fs)	Deletion (frameshift variant)	Congenital afibrinogenemia +1 more	GConflicting classifications of pathogenicity
Select item 1282432	NM_021871.4(FGA):c.365-144TTCT[17]	FGA	Microsatellite (intron variant)	not provided	GBenign
Select item 1277611	NM_021871.4(FGA):c.365-144TTCT[15]	FGA	Microsatellite (intron variant)	not provided	GBenign
Select item 1228209	NM_021871.4(FGA):c.365-144TTCT[16]	FGA	Microsatellite (intron variant)	not provided	GBenign
Select item 1263150	NM_021871.4(FGA):c.365-144TTCT[13]	FGA	Microsatellite (intron variant)	not provided	GBenign
Select item 1257622	NM_021871.4(FGA):c.365-144TTCT[12]	FGA	Microsatellite (intron variant)	not provided	GBenign
Select item 1233634	NM_021871.4(FGA):c.365-144TTCT[11]	FGA	Microsatellite (intron variant)	not provided	GBenign
Select item 817729	NM_021871.4(FGA):c.327_337del (p.Met110fs)	FGA (M110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3233974	NM_021871.4(FGA):c.263T>A (p.Leu88His)	FGA (L88H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1266157	NM_021871.4(FGA):c.181-96T>A	FGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222924	NM_021871.4(FGA):c.181-148G>A	FGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279619	NM_021871.4(FGA):c.181-186T>C	FGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247550	NM_021871.4(FGA):c.180+123G>A	FGA	Single nucleotide variant (intron variant)	not provided	GBenign
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 3342526	NM_021871.4(FGA):c.95G>A (p.Gly32Glu)	FGA (G32E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 347823	NM_021871.4(FGA):c.16A>G (p.Ile6Val)	FGA (I6V)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GBenign
Select item 347824	NM_021871.3(FGA):c.-58A>G	FGA	Single nucleotide variant	Congenital afibrinogenemia +2 more	GBenign
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 3361161	NM_021871.4(FGA):c.5T>C (p.Phe2Ser)	FGA (F2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 33