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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369438	NM_000509.5(FGG):c.*216C>T	FGG	Single nucleotide variant	Congenital afibrinogenemia +1 more	GBenign
Select item 2136246	NM_021870.3(FGG):c.*480G>T	FGG (A434S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1250353	NM_021870.3(FGG):c.*441T>A	FGG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1271870	NM_021870.3(FGG):c.*291C>T	FGG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 817223	NM_021870.3(FGG):c.1289dup (p.Ala431fs)	FGG (A431fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1268953	NM_021870.3(FGG):c.1129+712G>A	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234766	NM_021870.3(FGG):c.1129+421G>A	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 626970	NM_021870.3(FGG):c.1099G>A (p.Ala367Thr)	FGG (A367T)	Single nucleotide variant (missense variant)	Hypofibrinogenemia +3 more	GConflicting classifications of pathogenicity
Select item 1703920	NM_021870.3(FGG):c.1087A>G (p.Asn363Asp)	FGG (N363D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16366	NM_021870.2(FGG):c.1007T>C (p.Met336Thr)	FGG (M336T)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +2 more	GPathogenic/Likely pathogenic
Select item 16365	NM_021870.2(FGG):c.1001A>T (p.Asn334Ile)	FGG (N334I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16362	NM_021870.2(FGG):c.902G>A (p.Arg301His)	FGG (R301H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 432325	NM_021870.3(FGG):c.713A>G (p.Lys238Arg)	FGG (K238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497803	NM_021870.3(FGG):c.691A>G (p.Lys231Glu)	FGG (K231E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234325	NM_021870.3(FGG):c.533-43C>T	FGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347830	NM_021870.3(FGG):c.418T>C (p.Tyr140His)	FGG (Y140H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 626954	NM_021870.3(FGG):c.331A>T (p.Lys111Ter)	FGG (K111*)	Single nucleotide variant (nonsense)	Abnormal bleeding +2 more	GPathogenic
Select item 546155	NM_021870.3(FGG):c.278C>T (p.Thr93Ile)	FGG (T93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 900593	NM_021870.3(FGG):c.124G>A (p.Gly42Ser)	FGG (G42S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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

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Items: 21