710[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance
Select item 3357227	NM_000062.2(SERPING1):c.-168G>A	SERPING1	Single nucleotide variant	SERPING1-related disorder	GLikely benign
Select item 3956	NC_000011.10:g.57597582C>T	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GPathogenic
Select item 3242430	NM_000062.3(SERPING1):c.-161A>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GPathogenic
Select item 305009	NM_000062.2(SERPING1):c.-99dup	SERPING1	Duplication	Hereditary angioneurotic edema	GLikely benign
Select item 3353791	NM_000062.2(SERPING1):c.-99delC	SERPING1	Deletion	SERPING1-related disorder	GLikely benign
Select item 305010	NM_000062.2(SERPING1):c.-105C>A	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 3053304	NM_000062.2(SERPING1):c.-104C>T	SERPING1	Single nucleotide variant	SERPING1-related disorder	GLikely benign
Select item 877957	NM_000062.2(SERPING1):c.-100C>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 305011	NM_000062.2(SERPING1):c.-99C>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 3034653	NM_000062.2(SERPING1):c.-96A>C	SERPING1	Single nucleotide variant	SERPING1-related disorder	GLikely benign
Select item 877958	NM_000062.2(SERPING1):c.-94C>G	SERPING1	Single nucleotide variant	Hereditary angioedema type 1	GUncertain significance
Select item 305012	NM_000062.3(SERPING1):c.-56T>G	SERPING1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 1	GUncertain significance
Select item 305013	NM_000062.3(SERPING1):c.-36A>T	SERPING1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 1	GUncertain significance
Select item 305014	NM_000062.3(SERPING1):c.-24G>C	SERPING1	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema type 1	GBenign
Select item 3253589	NM_000062.3(SERPING1):c.-23+30G>A	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GLikely benign
Select item 870444	NM_000062.3(SERPING1):c.-22-155G>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	GPathogenic
Select item 3253590	NM_000062.3(SERPING1):c.-22-3C>G	SERPING1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3253588	NM_000062.3(SERPING1):c.-22-1G>A	SERPING1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary angioedema type 1	GPathogenic
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 626353	NM_000062.3(SERPING1):c.1A>C (p.Met1Leu)	SERPING1 (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary angioedema type 1	GPathogenic
Select item 626352	NM_000062.3(SERPING1):c.1A>G (p.Met1Val)	SERPING1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2910260	NM_000062.3(SERPING1):c.2T>G (p.Met1Arg)	SERPING1 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3336827	NM_000062.3(SERPING1):c.6_13del (p.Ser3fs)	SERPING1 (S3fs)	Deletion (frameshift variant +1 more)	Hereditary angioedema type 1	GPathogenic
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 1911084	NM_000062.3(SERPING1):c.6C>A (p.Ala2=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 830237	NM_000062.3(SERPING1):c.9del (p.Arg4fs)	SERPING1 (R4fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 1771763	NM_000062.3(SERPING1):c.13C>T (p.Leu5=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1167822	NM_000062.3(SERPING1):c.25A>C (p.Thr9Pro)	SERPING1 (T9P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3317641	NM_000062.3(SERPING1):c.27C>T (p.Thr9=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1557245	NM_000062.3(SERPING1):c.27C>A (p.Thr9=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1380534	NM_000062.3(SERPING1):c.31CTG[6] (p.Leu15dup)	SERPING1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2963343	NM_000062.3(SERPING1):c.31C>T (p.Leu11=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255467	NM_000062.3(SERPING1):c.35T>G (p.Leu12Arg)	SERPING1 (L12R)	Single nucleotide variant (missense variant)	Hereditary angioedema type 1	GLikely pathogenic
Select item 3255481	NM_000062.3(SERPING1):c.44del (p.Leu15fs)	SERPING1 (L15fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 689535	NM_000062.3(SERPING1):c.51+1del	SERPING1	Deletion (splice donor variant)	Angioedema	GLikely pathogenic
Select item 305017	NM_000062.3(SERPING1):c.51G>C (p.Gly17=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 92195	NM_000062.3(SERPING1):c.51G>A (p.Gly17=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3248625	NM_000062.3(SERPING1):c.51+1G>T	SERPING1	Single nucleotide variant (splice donor variant)	Hereditary angioedema type 1	GPathogenic
Select item 2755140	NM_000062.3(SERPING1):c.51+1G>C	SERPING1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1387977	NM_000062.3(SERPING1):c.51+1G>A	SERPING1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2972682	NM_000062.3(SERPING1):c.51+3A>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2907408	NM_000062.3(SERPING1):c.51+3A>C	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1745353	NM_000062.3(SERPING1):c.51+3A>G	SERPING1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2715579	NM_000062.3(SERPING1):c.51+4T>C	SERPING1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 450500	NM_000062.3(SERPING1):c.51+5G>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1994534	NM_000062.3(SERPING1):c.51+13T>G	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013769	NM_000062.3(SERPING1):c.51+19G>A	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 983229	NM_000062.3(SERPING1):c.51+101G>A	SERPING1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983237	NM_000062.3(SERPING1):c.51+612GT[8]	SERPING1	Microsatellite (intron variant)	Hereditary angioedema type 1	GBenign
Select item 983238	NM_000062.3(SERPING1):c.52-696C>T	SERPING1	Single nucleotide variant (intron variant)	Hereditary angioedema type 1	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 1558990	NM_000062.3(SERPING1):c.52-16G>A	SERPING1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2789131	NM_000062.3(SERPING1):c.52-9G>C	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2199211	NM_000062.3(SERPING1):c.52-5CA[4]	SERPING1	Microsatellite (splice acceptor variant)	not provided	GUncertain significance
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 3255482	NM_000062.3(SERPING1):c.52-2A>G	SERPING1	Single nucleotide variant (splice acceptor variant)	Hereditary angioedema type 1	GPathogenic
Select item 2822567	NM_000062.3(SERPING1):c.52-1G>C	SERPING1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 619175	NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter)	SERPING1 (R19*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 2130412	NM_000062.3(SERPING1):c.59C>G (p.Ala20Gly)	SERPING1 (A20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336839	NM_000062.3(SERPING1):c.64dup (p.Ser22fs)	SERPING1 (S22fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 1365661	NM_000062.3(SERPING1):c.65C>T (p.Ser22Leu)	SERPING1 (S22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299717	NM_000062.3(SERPING1):c.74del (p.Asn25fs)	SERPING1 (N25fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic
Select item 3336722	NM_000062.3(SERPING1):c.79_85del (p.Thr27fs)	SERPING1 (T27fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3338297	NM_000062.3(SERPING1):c.82dup (p.Ser28fs)	SERPING1 (S28fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 2832868	NM_000062.3(SERPING1):c.86C>G (p.Ser29Cys)	SERPING1 (S29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712038	NM_000062.3(SERPING1):c.94C>G (p.Gln32Glu)	SERPING1 (Q32E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981982	NM_000062.3(SERPING1):c.100C>G (p.Pro34Ala)	SERPING1 (P34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299728	NM_000062.3(SERPING1):c.100C>A (p.Pro34Thr)	SERPING1 (P34T)	Single nucleotide variant (missense variant)	Hereditary angioedema with C1Inh deficiency	GUncertain significance
Select item 626349	NM_000062.3(SERPING1):c.106_107del (p.Ser36fs)	SERPING1 (S36fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255508	NM_000062.3(SERPING1):c.110dup (p.Leu37fs)	SERPING1 (L37fs)	Duplication (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 3255512	NM_000062.3(SERPING1):c.115del (p.Asp39fs)	SERPING1 (D39fs)	Deletion (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 305018	NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu)	SERPING1 (D39E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3248624	NM_000062.3(SERPING1):c.120_121del (p.Gly41fs)	SERPING1 (G41fs)	Microsatellite (frameshift variant)	Hereditary angioedema type 1	GPathogenic
Select item 2789132	NM_000062.3(SERPING1):c.121G>T (p.Gly41Cys)	SERPING1 (G41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1453178	NM_000062.3(SERPING1):c.123C>T (p.Gly41=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2055125	NM_000062.3(SERPING1):c.124G>A (p.Glu42Lys)	SERPING1 (E42K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 694737	NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter)	SERPING1 (E42*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	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 3256130	NM_000062.3(SERPING1):c.130A>T (p.Lys44Ter)	SERPING1 (K44*)	Single nucleotide variant (nonsense)	Hereditary angioedema type 1	GPathogenic
Select item 1096580	NM_000062.3(SERPING1):c.133G>T (p.Val45Phe)	SERPING1 (V45F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1478827	NM_000062.3(SERPING1):c.134T>C (p.Val45Ala)	SERPING1 (V45A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750374	NM_000062.3(SERPING1):c.135C>G (p.Val45=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 305019	NM_000062.3(SERPING1):c.135C>T (p.Val45=)	SERPING1	Single nucleotide variant (synonymous variant)	Hereditary angioedema type 1	GUncertain significance
Select item 3255484	NM_000062.3(SERPING1):c.136_139delinsTTG (p.Ala46fs)	SERPING1 (A46fs)	Indel (frameshift variant)	Angioedema	GPathogenic
Select item 1486469	NM_000062.3(SERPING1):c.136G>A (p.Ala46Thr)	SERPING1 (A46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840031	NM_000062.3(SERPING1):c.139A>G (p.Thr47Ala)	SERPING1 (T47A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878120	NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala)	SERPING1 (T48A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2150338	NM_000062.3(SERPING1):c.153C>T (p.Ser51=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414593	NM_000062.3(SERPING1):c.155A>G (p.Lys52Arg)	SERPING1 (K52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817621	NM_000062.3(SERPING1):c.164del (p.Phe55fs)	SERPING1 (F55fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1777442	NM_000062.3(SERPING1):c.165C>T (p.Phe55=)	SERPING1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2714694	NM_000062.3(SERPING1):c.166G>A (p.Val56Ile)	SERPING1 (V56I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503648	NM_000062.3(SERPING1):c.166del (p.Val56fs)	SERPING1 (V56fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 305020	NM_000062.3(SERPING1):c.167T>C (p.Val56Ala)	SERPING1 (V56A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 879578	NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys)	SERPING1 (E57K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2182792	NM_000062.3(SERPING1):c.171A>G (p.Glu57=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299739	NM_000062.3(SERPING1):c.172_181del (p.Pro58fs)	SERPING1 (P58fs)	Deletion (frameshift variant)	Hereditary angioedema with C1Inh deficiency	GPathogenic

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