C2717906[trait identifier] AND "Division of Rheumatology, Allergy and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979213	NM_000062.3(SERPING1):c.195del (p.Leu65fs)	SERPING1 (L65fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979214	NM_000062.3(SERPING1):c.314_317del (p.Pro105fs)	SERPING1 (P105fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979215	NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs)	SERPING1 (S195fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979216	NM_000062.3(SERPING1):c.686-1G>A	SERPING1	Single nucleotide variant (splice acceptor variant)	Hereditary angioedema type 1	GPathogenic
Select item 979217	NM_000062.3(SERPING1):c.902del (p.Thr301fs)	SERPING1 (T301fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 979218	NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter)	SERPING1 (K329*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 692101	NM_000062.3(SERPING1):c.1104del (p.Asp369fs)	SERPING1 (D369fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 979219	NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs)	SERPING1 (I412fs)	Insertion (frameshift variant)	Hereditary angioedema type 1	GPathogenic

ClinVar