ClinVar for MedGen (Select 585077) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3954	NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp)	SERPING1	Insertion (inframe_indel)	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	GPathogenic
Select item 3953	NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu)	SERPING1 (V454E)	Single nucleotide variant (missense variant)	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	GPathogenic
Select item 3948	NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser)	SERPING1 (R466S)	Single nucleotide variant (missense variant)	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	GPathogenic
Select item 3947	NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)	SERPING1 (R466C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3946	NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	SERPING1 (R466H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3945	NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr)	SERPING1 (A458T)	Single nucleotide variant (missense variant)	Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	GPathogenic

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