"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 627163	NM_021870.3(FGG):c.963del (p.Phe321fs)	FGG (F321fs)	Deletion (frameshift variant)	Hypofibrinogenemia	GLikely pathogenic
Select item 627185	NM_021870.3(FGG):c.952G>A (p.Gly318Ser)	FGG (G318S)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	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 16361	NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	FGG (R301C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 626936	NM_021870.3(FGG):c.677G>T (p.Gly226Val)	FGG (G226V)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +1 more	GLikely pathogenic
Select item 627102	NM_021870.3(FGG):c.622T>C (p.Cys208Arg)	FGG (C208R)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GUncertain significance
Select item 16378	NM_021870.3(FGG):c.571G>A (p.Gly191Arg)	FGG (G191R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 627074	NM_021870.3(FGG):c.447C>A (p.Asn149Lys)	FGG (N149K)	Single nucleotide variant (missense variant)	Thromboembolism	GUncertain significance
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 547969	NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	FGG (A108G)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +6 more	GConflicting classifications of pathogenicity
Select item 627266	NM_021870.3(FGG):c.185T>C (p.Val62Ala)	FGG (V62A)	Single nucleotide variant (missense variant)	Thromboembolism	GUncertain significance
Select item 627235	NM_021870.3(FGG):c.140C>T (p.Thr47Ile)	FGG (T47I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 16376	NM_021870.3(FGG):c.78+5G>A	FGG	Single nucleotide variant (intron variant)	Hypofibrinogenemia	GLikely pathogenic