"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689535	NM_000062.3(SERPING1):c.51+1del	SERPING1	Deletion (splice donor variant)	Angioedema	GLikely pathogenic
Select item 689536	NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp)	SERPING1 (C123W)	Single nucleotide variant (missense variant)	Angioedema	GUncertain significance
Select item 689537	NM_000062.3(SERPING1):c.1249+5G>C	SERPING1	Single nucleotide variant (intron variant)	Angioedema	GUncertain significance
Select item 427759	NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr)	SERPING1 (M492T)	Single nucleotide variant (missense variant)	Angioedema	GLikely pathogenic

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