ClinVar for Gene (Select 710) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3230223	NM_000062.3(SERPING1):c.1381G>T (p.Ala461Ser)	SERPING1 (A461S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160495	NM_000062.3(SERPING1):c.577C>G (p.Leu193Val)	SERPING1 (L193V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160494	NM_000062.3(SERPING1):c.197C>T (p.Pro66Leu)	SERPING1 (P66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160493	NM_000062.3(SERPING1):c.1000C>T (p.His334Tyr)	SERPING1 (H334Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3054878	NM_000062.3(SERPING1):c.1337T>A (p.Val446Glu)	SERPING1 (V446E)	Single nucleotide variant (missense variant)	SERPING1-related disorder	GUncertain significance
Select item 3053304	NM_000062.2(SERPING1):c.-104C>T	SERPING1	Single nucleotide variant	SERPING1-related disorder	GLikely benign
Select item 3034653	NM_000062.2(SERPING1):c.-96A>C	SERPING1	Single nucleotide variant	SERPING1-related disorder	GLikely benign
Select item 3031921	NM_000062.3(SERPING1):c.778G>T (p.Glu260Ter)	SERPING1 (E260*)	Single nucleotide variant (nonsense)	SERPING1-related disorder	GPathogenic
Select item 3023917	NM_000062.3(SERPING1):c.434C>G (p.Ala145Gly)	SERPING1 (A145G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023437	NM_000062.3(SERPING1):c.1487A>G (p.Tyr496Cys)	SERPING1 (Y496C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017349	NM_000062.3(SERPING1):c.1197C>A (p.Pro399=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011192	NM_000062.3(SERPING1):c.1384A>G (p.Ile462Val)	SERPING1 (I462V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010994	NM_000062.3(SERPING1):c.741C>T (p.Ser247=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010178	NM_000062.3(SERPING1):c.890-11C>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006949	NM_000062.3(SERPING1):c.459C>G (p.Leu153=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001767	NM_000062.3(SERPING1):c.1029+19C>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001332	NM_000062.3(SERPING1):c.52-5C>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000255	NM_000062.3(SERPING1):c.1249+13A>G	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994741	NM_000062.3(SERPING1):c.936C>T (p.Pro312=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993101	NM_000062.3(SERPING1):c.935C>A (p.Pro312His)	SERPING1 (P312H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987637	NM_000062.3(SERPING1):c.210A>T (p.Ser70=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972682	NM_000062.3(SERPING1):c.51+3A>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2964620	NM_000062.3(SERPING1):c.1051C>T (p.His351Tyr)	SERPING1 (H351Y)	Single nucleotide variant (missense variant)	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 2963200	NM_000062.3(SERPING1):c.550+8C>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957603	NM_000062.3(SERPING1):c.396C>T (p.Asp132=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916320	NM_000062.3(SERPING1):c.1236C>T (p.Ile412=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913308	NM_000062.3(SERPING1):c.844C>T (p.Pro282Ser)	SERPING1 (P282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912968	NM_000062.3(SERPING1):c.588C>T (p.Ile196=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910261	NM_000062.3(SERPING1):c.218del (p.Asn73fs)	SERPING1 (N73fs)	Deletion (frameshift variant)	not provided	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 2909465	NM_000062.3(SERPING1):c.239C>T (p.Ala80Val)	SERPING1 (A80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909194	NM_000062.3(SERPING1):c.711G>A (p.Val237=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907753	NM_000062.3(SERPING1):c.850G>A (p.Asp284Asn)	SERPING1 (D284N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907714	NM_000062.3(SERPING1):c.420C>T (p.Ala140=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907408	NM_000062.3(SERPING1):c.51+3A>C	SERPING1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2900272	NM_000062.3(SERPING1):c.761A>G (p.Asn254Ser)	SERPING1 (N254S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896873	NM_000062.3(SERPING1):c.581A>G (p.Glu194Gly)	SERPING1 (E194G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889483	NM_000062.3(SERPING1):c.868C>T (p.Leu290Phe)	SERPING1 (L290F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879443	NM_000062.3(SERPING1):c.681C>T (p.Ser227=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878114	NM_000062.3(SERPING1):c.191G>C (p.Ser64Thr)	SERPING1 (S64T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2868738	NM_000062.3(SERPING1):c.859C>T (p.Leu287Phe)	SERPING1 (L287F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867061	NM_000062.3(SERPING1):c.966G>A (p.Val322=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862525	NM_000062.3(SERPING1):c.1134T>A (p.Val378=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862524	NM_000062.3(SERPING1):c.1133_1134insA (p.Lys380fs)	SERPING1 (K380fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2861472	NM_000062.3(SERPING1):c.997G>C (p.Ala333Pro)	SERPING1 (A333P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847993	NM_000062.3(SERPING1):c.889+8T>G	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847971	NM_000062.3(SERPING1):c.207_218del (p.67TTNS[1])	SERPING1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2847583	NM_000062.3(SERPING1):c.1249+15C>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845168	NM_000062.3(SERPING1):c.1304A>G (p.Asp435Gly)	SERPING1 (D435G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844043	NM_000062.3(SERPING1):c.657C>T (p.Thr219=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840799	NM_000062.3(SERPING1):c.1093C>T (p.His365Tyr)	SERPING1 (H365Y)	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 2837525	NM_000062.3(SERPING1):c.1364_1375del (p.Glu455_Ala458del)	SERPING1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2836782	NM_000062.3(SERPING1):c.326_327del (p.Leu109fs)	SERPING1 (L109fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2834287	NM_000062.3(SERPING1):c.1195C>A (p.Pro399Thr)	SERPING1 (P399T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833041	NM_000062.3(SERPING1):c.805_809dup (p.Asn271fs)	SERPING1 (N271fs)	Duplication (frameshift variant)	not provided	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 2827438	NM_000062.3(SERPING1):c.1312del (p.Val438fs)	SERPING1 (V438fs)	Deletion (frameshift variant)	not provided	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 2815436	NM_000062.3(SERPING1):c.1185C>T (p.Leu395=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814242	NM_000062.3(SERPING1):c.720_721dup (p.Arg241fs)	SERPING1 (R241fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2811807	NM_000062.3(SERPING1):c.382dup (p.Thr128fs)	SERPING1 (T128fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2809540	NM_000062.3(SERPING1):c.972_973insGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTGCCCATG (p.Met325delinsAlaAlaTer)	SERPING1	Microsatellite (nonsense)	not provided	GPathogenic
Select item 2805198	NM_000062.3(SERPING1):c.733A>G (p.Ser245Gly)	SERPING1 (S245G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799235	NM_000062.3(SERPING1):c.733AGC[2] (p.Ser247del)	SERPING1 (S247del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2796576	NM_000062.3(SERPING1):c.910G>C (p.Asp304His)	SERPING1 (D304H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792797	NM_000062.3(SERPING1):c.1158G>A (p.Leu386=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2789131	NM_000062.3(SERPING1):c.52-9G>C	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782100	NM_000062.3(SERPING1):c.1350A>C (p.Thr450=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781018	NM_000062.3(SERPING1):c.550+20C>T	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780213	NM_000062.3(SERPING1):c.1196C>A (p.Pro399His)	SERPING1 (P399H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769565	NM_000062.3(SERPING1):c.1445G>A (p.Trp482Ter)	SERPING1 (W482*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2768455	NM_000062.3(SERPING1):c.1035G>A (p.Gly345=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767252	NM_000062.3(SERPING1):c.1250-10T>G	SERPING1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765382	NM_000062.3(SERPING1):c.921A>T (p.Lys307Asn)	SERPING1 (K307N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764929	NM_000062.3(SERPING1):c.1187T>A (p.Leu396Gln)	SERPING1 (L396Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763455	NM_000062.3(SERPING1):c.1381G>A (p.Ala461Thr)	SERPING1 (A461T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761809	NM_000062.3(SERPING1):c.1157_1158del (p.Leu386fs)	SERPING1 (L386fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2761563	NM_000062.3(SERPING1):c.1237A>G (p.Met413Val)	SERPING1 (M413V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755140	NM_000062.3(SERPING1):c.51+1G>C	SERPING1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2754371	NM_000062.3(SERPING1):c.1468G>C (p.Val490Leu)	SERPING1 (V490L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753309	NM_000062.3(SERPING1):c.309C>G (p.Thr103=)	SERPING1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752141	NM_000062.3(SERPING1):c.1380del (p.Ala461fs)	SERPING1 (A461fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2751269	NM_000062.3(SERPING1):c.401dup (p.Ser135fs)	SERPING1 (S135fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2750707	NM_000062.3(SERPING1):c.932A>G (p.Glu311Gly)	SERPING1 (E311G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739741	NM_000062.3(SERPING1):c.934C>T (p.Pro312Ser)	SERPING1 (P312S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738393	NM_000062.3(SERPING1):c.698G>C (p.Arg233Thr)	SERPING1 (R233T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736654	NM_000062.3(SERPING1):c.950A>C (p.Asn317Thr)	SERPING1 (N317T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736395	NM_000062.3(SERPING1):c.520A>G (p.Ile174Val)	SERPING1 (I174V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735620	NM_000062.3(SERPING1):c.1442T>G (p.Leu481Arg)	SERPING1 (L481R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735617	NM_000062.3(SERPING1):c.1180A>C (p.Thr394Pro)	SERPING1 (T394P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735615	NM_000062.3(SERPING1):c.1070T>A (p.Ile357Asn)	SERPING1 (I357N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735614	NM_000062.3(SERPING1):c.1033G>A (p.Gly345Arg)	SERPING1 (G345R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735613	NM_000062.3(SERPING1):c.1029+1G>T	SERPING1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2735611	NM_000062.3(SERPING1):c.743C>G (p.Pro248Arg)	SERPING1 (P248R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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