ClinVar for MedGen (Select 414178) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 276	NM_000934.4(SERPINF2):c.1231G>A (p.Val411Met)	SERPINF2 (V347M +1 more)	Single nucleotide variant (missense variant)	Alpha-2-plasmin inhibitor deficiency	GPathogenic
Select item 275	NM_000934.4(SERPINF2):c.525AGA[1] (p.Glu176del)	SERPINF2 (E112del +1 more)	Microsatellite (inframe_deletion)	Alpha-2-plasmin inhibitor deficiency	GPathogenic
Select item 274	NM_000934.4(SERPINF2):c.1437dup (p.Met480fs)	SERPINF2 (M416fs +1 more)	Duplication (frameshift variant)	Alpha-2-plasmin inhibitor deficiency	GPathogenic

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