Related gene-specific medical variations for Gene (Select 2266) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381927	NM_021870.3(FGG):c.124-2A>G	FGG	Single nucleotide variant (splice acceptor variant)	Familial dysfibrinogenemia	GPathogenic
Select item 3366970	NM_021870.3(FGG):c.1006A>T (p.Met336Leu)	FGG (M336L)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 3257729	NM_021870.3(FGG):c.1242del (p.Phe415fs)	FGG (F415fs)	Deletion (frameshift variant)	Congenital afibrinogenemia +1 more	GLikely pathogenic
Select item 2664006	NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)	FGG (D356G)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia	GLikely pathogenic
Select item 2441431	NM_021870.3(FGG):c.661C>A (p.Gln221Lys)	FGG (Q221K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098509	NM_021870.3(FGG):c.606G>C (p.Gln202His)	FGG (Q202H)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098508	NM_021870.3(FGG):c.694A>G (p.Lys232Glu)	FGG (K232E)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098507	NM_021870.3(FGG):c.700T>C (p.Trp234Arg)	FGG (W234R)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 1098506	NM_021870.3(FGG):c.1202G>A (p.Arg401Gln)	FGG (R401Q)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia	GUncertain significance
Select item 16372	FIBRINOGEN OSLO 3	FGG	Variation	FIBRINOGEN OSLO III	Gother