"GeneDx"[submitter] AND "SERPING1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305015	NM_000062.3(SERPING1):c.-21T>C	SERPING1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 305016	NM_000062.3(SERPING1):c.5C>T (p.Ala2Val)	SERPING1 (A2V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 450500	NM_000062.3(SERPING1):c.51+5G>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 983229	NM_000062.3(SERPING1):c.51+101G>A	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983239	NM_000062.3(SERPING1):c.52-130C>T	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 280064	NM_000062.3(SERPING1):c.52-1G>A	SERPING1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 696821	NM_000062.3(SERPING1):c.129G>A (p.Gly43=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 817621	NM_000062.3(SERPING1):c.164del (p.Phe55fs)	SERPING1 (F55fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 503648	NM_000062.3(SERPING1):c.166del (p.Val56fs)	SERPING1 (V56fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1303128	NM_000062.3(SERPING1):c.448T>C (p.Ser150Pro)	SERPING1 (S150P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305024	NM_000062.3(SERPING1):c.468C>T (p.Ala156=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 418660	NM_000062.3(SERPING1):c.512C>T (p.Pro171Leu)	SERPING1 (P171L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 68253	NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg)	SERPING1 (G184R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1286657	NM_000062.3(SERPING1):c.551-155_551-154del	SERPING1	Deletion (intron variant)	not provided	GBenign
Select item 1237722	NM_000062.3(SERPING1):c.551-162_551-154del	SERPING1	Deletion (intron variant)	not provided	GBenign
Select item 983243	NM_000062.3(SERPING1):c.551-155A>G	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2430943	NM_000062.3(SERPING1):c.551-1G>A	SERPING1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 418485	NM_000062.3(SERPING1):c.589C>G (p.Leu197Val)	SERPING1 (L197V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92196	NM_000062.3(SERPING1):c.685+88G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 1272213	NM_000062.3(SERPING1):c.685+315T>C	SERPING1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92194	NM_000062.3(SERPING1):c.686-9T>C	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 305026	NM_000062.3(SERPING1):c.751C>T (p.Leu251=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 432141	NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro)	SERPING1 (L251P)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GLikely pathogenic
Select item 1303129	NM_000062.3(SERPING1):c.764G>C (p.Ser255Thr)	SERPING1 (S255T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302083	NM_000062.3(SERPING1):c.798G>A (p.Val266=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1304947	NM_000062.3(SERPING1):c.826C>T (p.Arg276Trp)	SERPING1 (R276W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 305027	NM_000062.3(SERPING1):c.849C>T (p.Ser283=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1 +3 more	GBenign/Likely benign
Select item 419322	NM_000062.3(SERPING1):c.856del (p.Arg286fs)	SERPING1 (R286fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 378573	NM_000062.3(SERPING1):c.871A>C (p.Asn291His)	SERPING1 (N291H)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2663363	NM_000062.3(SERPING1):c.897G>A (p.Trp299Ter)	SERPING1 (W299*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 690347	NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser)	SERPING1 (F303S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426410	NM_000062.3(SERPING1):c.936del (p.His314fs)	SERPING1 (H314fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 983254	NM_000062.3(SERPING1):c.1029+312T>C	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254785	NM_000062.3(SERPING1):c.1030-20A>G	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +2 more	GBenign
Select item 426682	NM_000062.3(SERPING1):c.1121T>C (p.Leu374Pro)	SERPING1 (L374P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419503	NM_000062.3(SERPING1):c.1169_1175del (p.Lys390fs)	SERPING1 (K390fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 450648	NM_000062.3(SERPING1):c.1183C>G (p.Leu395Val)	SERPING1 (L395V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305028	NM_000062.3(SERPING1):c.1218C>T (p.Ser406=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 983236	NM_000062.3(SERPING1):c.1250-282T>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GBenign
Select item 451758	NM_000062.3(SERPING1):c.1250-3T>G	SERPING1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 503707	NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs)	SERPING1 (E451fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3947	NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)	SERPING1 (R466C)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +1 more	GPathogenic
Select item 426171	NM_000062.3(SERPING1):c.1397G>C (p.Arg466Pro)	SERPING1 (R466P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3946	NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	SERPING1 (R466H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 817083	NM_000062.3(SERPING1):c.1409del (p.Val470fs)	SERPING1 (V470fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 254786	NM_000062.3(SERPING1):c.1438G>A (p.Val480Met)	SERPING1 (V480M)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1 +3 more	GBenign
Select item 451253	NM_000062.3(SERPING1):c.1458_1465delinsA (p.His486fs)	SERPING1 (H486fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 626347	NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)	SERPING1 (R494*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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Items: 48