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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627244	NM_021871.4(FGA):c.1472G>A (p.Cys491Tyr)	FGA (C491Y)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GLikely pathogenic
Select item 627159	NM_021871.4(FGA):c.945del (p.Gly316fs)	FGA (G316fs)	Deletion (frameshift variant)	Hypofibrinogenemia	GPathogenic
Select item 627406	NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	FGA (R308*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
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 627216	NM_021871.4(FGA):c.117del (p.Val40fs)	FGA (V40fs)	Deletion (frameshift variant)	Hypofibrinogenemia +1 more	GPathogenic/Likely pathogenic
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 627199	NM_021871.4(FGA):c.104G>C (p.Arg35Pro)	FGA (R35P)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GPathogenic
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 627196	NM_021871.4(FGA):c.103C>A (p.Arg35Ser)	FGA (R35S)	Single nucleotide variant (missense variant)	Hypofibrinogenemia	GPathogenic

ClinVar