ClinVar for MedGen (Select 226778) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16404	NM_021871.4(FGA):c.104G>A (p.Arg35His)	FGA (R35H)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 16399	NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	FGA (R35C)	Single nucleotide variant (missense variant)	Familial dysfibrinogenemia +1 more	GPathogenic