ClinVar for MedGen (Select 1543) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336721	NM_000062.3(SERPING1):c.656C>T (p.Thr219Ile)	SERPING1 (T219I)	Single nucleotide variant (missense variant)	Angioedema	GUncertain significance
Select item 3255495	NM_000062.3(SERPING1):c.1058T>C (p.Leu353Pro)	SERPING1 (L353P)	Single nucleotide variant (missense variant)	Angioedema	GLikely pathogenic
Select item 3255493	NM_000062.3(SERPING1):c.1195C>T (p.Pro399Ser)	SERPING1 (P399S)	Single nucleotide variant (missense variant)	Angioedema	GPathogenic
Select item 3255484	NM_000062.3(SERPING1):c.136_139delinsTTG (p.Ala46fs)	SERPING1 (A46fs)	Indel (frameshift variant)	Angioedema	GPathogenic
Select item 3248618	NM_000062.3(SERPING1):c.523_526delinsTG (p.Ala175fs)	SERPING1 (A175fs)	Indel (frameshift variant)	Angioedema	GPathogenic
Select item 3248557	NM_000062.3(SERPING1):c.550+1G>A	SERPING1	Single nucleotide variant (splice donor variant)	Angioedema	GPathogenic
Select item 3001332	NM_000062.3(SERPING1):c.52-5C>T	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2811807	NM_000062.3(SERPING1):c.382dup (p.Thr128fs)	SERPING1 (T128fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 689537	NM_000062.3(SERPING1):c.1249+5G>C	SERPING1	Single nucleotide variant (intron variant)	Angioedema	GUncertain significance
Select item 689536	NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp)	SERPING1 (C123W)	Single nucleotide variant (missense variant)	Angioedema	GUncertain significance
Select item 689535	NM_000062.3(SERPING1):c.51+1del	SERPING1	Deletion (splice donor variant)	Angioedema	GLikely pathogenic
Select item 427759	NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr)	SERPING1 (M492T)	Single nucleotide variant (missense variant)	Angioedema	GLikely pathogenic
Select item 375385	NM_206927.4(SYTL2):c.893del (p.Ser298fs)	SYTL2 (S249fs +5 more)	Deletion (frameshift variant)	Angioedema	GUncertain significance
Select item 252940	NM_000062.3(SERPING1):c.587T>A (p.Ile196Asn)	SERPING1 (I196N)	Single nucleotide variant (missense variant)	Angioedema	GLikely pathogenic
Select item 1170	NM_000505.4(F12):c.983C>G (p.Thr328Arg)	F12 (T328R)	Single nucleotide variant (missense variant)	Angioedema +4 more	GPathogenic