SERPING1 (serpin family G member 1) - Rat Genome Database

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Gene: SERPING1 (serpin family G member 1) Homo sapiens
Analyze
Symbol: SERPING1
Name: serpin family G member 1
RGD ID: 1344082
HGNC Page HGNC:1228
Description: Enables serine-type endopeptidase inhibitor activity. Involved in negative regulation of complement activation, lectin pathway. Located in blood microparticle; collagen-containing extracellular matrix; and extracellular exosome. Implicated in several diseases, including COVID-19; angioedema (multiple); cerebral infarction; pancreatitis; and toxic shock syndrome. Biomarker of acute myocardial infarction; autosomal dominant polycystic kidney disease; hereditary angioedema; and macular degeneration.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1 esterase inhibitor; C1-inhibiting factor; C1-inhibitor; C1IN; C1INH; C1NH; complement component 1 inhibitor; HAE1; HAE2; plasma protease C1 inhibitor; serine (or cysteine) proteinase inhibitor, clade g (c1 inhibitor), member 1, (angioedema, hereditary); serine/cysteine proteinase inhibitor clade G member 1; serpin G1; serpin peptidase inhibitor clade G member 1; serpin peptidase inhibitor, clade G (C1 inhibitor), member 1; serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381157,597,685 - 57,614,848 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1157,597,387 - 57,619,171 (+)EnsemblGRCh38hg38GRCh38
GRCh371157,365,158 - 57,382,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361157,121,603 - 57,138,902 (+)NCBINCBI36Build 36hg18NCBI36
Build 341157,121,733 - 57,138,895NCBI
Celera1154,721,543 - 54,738,843 (+)NCBICelera
Cytogenetic Map11q12.1NCBI
HuRef1153,713,821 - 53,731,117 (+)NCBIHuRef
CHM1_11157,231,240 - 57,248,536 (+)NCBICHM1_1
T2T-CHM13v2.01157,547,859 - 57,565,023 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbonyl sulfide  (ISO)
CGP 52608  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
danazol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (EXP,ISO)
dioxygen  (ISO)
diquat  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hydralazine  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
lansoprazole  (ISO)
lead(0)  (ISO)
lipopolysaccharide  (EXP,ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methcathinone  (EXP)
methimazole  (ISO)
morphine  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
olanzapine  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
pantoprazole  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
Ptaquiloside  (ISO)
rabeprazole  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Prolonged C1 inhibitor administration improves local healing of burn wounds and reduces myocardial inflammation in a rat burn wound model. Begieneman MP, etal., J Burn Care Res. 2012 Jul;33(4):544-51.
2. Myocardial infarction induces atrial inflammation that can be prevented by C1-esterase inhibitor. Begieneman MP, etal., J Clin Pathol. 2016 Dec;69(12):1093-1099. doi: 10.1136/jclinpath-2016-203639. Epub 2016 May 6.
3. Impact of combined C1 esterase inhibitor/coagulation factor XIII or N-acetylcysteine/tirilazad mesylate administration on leucocyte adherence and cytokine release in experimental endotoxaemia. Birnbaum J, etal., J Int Med Res. 2008 Jul-Aug;36(4):748-59.
4. Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations. Blanch A, etal., Hum Mutat. 2002 Nov;20(5):405-6.
5. The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. Bos IG, etal., J Biol Chem 2003 Aug 8;278(32):29463-70. Epub 2003 May 27.
6. Influence of C1-inhibitor on inflammation, edema and shock. Dickneite G Behring Inst Mitt. 1993 Dec;(93):299-305.
7. Refinement of tourniquet-induced peripheral ischemia/reperfusion injury in rats: comparison of 2 h vs 24 h reperfusion. Duehrkop C and Rieben R, Lab Anim. 2014 Apr;48(2):143-54. doi: 10.1177/0023677213516313.
8. C1 esterase inhibitor reduces lower extremity ischemia/reperfusion injury and associated lung damage. Duehrkop C, etal., PLoS One. 2013 Aug 26;8(8):e72059. doi: 10.1371/journal.pone.0072059. eCollection 2013.
9. Endogenous C1-inhibitor production and expression in the heart after acute myocardial infarction. Emmens RW, etal., Cardiovasc Pathol. 2016 Jan-Feb;25(1):33-9. doi: 10.1016/j.carpath.2015.09.006. Epub 2015 Sep 25.
10. Anti-apoptotic role for C1 inhibitor in ischemia/reperfusion-induced myocardial cell injury. Fu J, etal., Biochem Biophys Res Commun. 2006 Oct 20;349(2):504-12. Epub 2006 Aug 22.
11. C1-inactivator is upregulated in glioblastoma. Förnvik K, etal., PLoS One. 2017 Sep 7;12(9):e0183086. doi: 10.1371/journal.pone.0183086. eCollection 2017.
12. Determination of a gene and environment risk model for age-related macular degeneration. Gibson J, etal., Br J Ophthalmol. 2010 Oct;94(10):1382-7. doi: 10.1136/bjo.2010.182568. Epub 2010 Jun 24.
13. Variation in complement component C1 inhibitor in age-related macular degeneration. Gibson J, etal., Immunobiology. 2012 Feb;217(2):251-5. doi: 10.1016/j.imbio.2011.07.015. Epub 2011 Jul 23.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Inhibition of classical complement activation attenuates liver ischaemia and reperfusion injury in a rat model. Heijnen BH, etal., Clin Exp Immunol. 2006 Jan;143(1):15-23.
16. C1-esterase inhibitor reduces infarct volume after cortical vein occlusion. Heimann A, etal., Brain Res. 1999 Aug 14;838(1-2):210-3.
17. Beneficial effects of C1 esterase inhibitor in murine traumatic shock. Kochilas L, etal., Shock. 1997 Sep;8(3):165-9.
18. Proteases and protease inhibitors in taurocholate-induced acute pancreatitis in rats. Kruse P, etal., Int J Pancreatol. 1999 Apr;25(2):113-21.
19. The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration. Lee AY, etal., Br J Ophthalmol. 2010 Jul;94(7):915-7. doi: 10.1136/bjo.2009.172007.
20. The kallikrein-kinin system: current and future pharmacological targets. Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
21. Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese. Nakata I, etal., PLoS One. 2011 Apr 19;6(4):e19108. doi: 10.1371/journal.pone.0019108.
22. Blood coagulation. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. C1 inhibitor gene expression in patients with hereditary angioedema: quantitative evaluation by means of real-time RT-PCR. Pappalardo E, etal., J Allergy Clin Immunol. 2004 Sep;114(3):638-44.
25. Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects. Park KH, etal., Mol Vis. 2009;15:200-7. Epub 2009 Jan 23.
26. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
27. Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection. Ramlall V, etal., Nat Med. 2020 Aug 3. pii: 10.1038/s41591-020-1021-2. doi: 10.1038/s41591-020-1021-2.
28. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
30. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
31. How it all starts: Initiation of the clotting cascade. Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
32. Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease. Su Z, etal., J Intern Med. 2014 Feb 4. doi: 10.1111/joim.12214.
33. Mutant prourokinase with adjunctive C1-inhibitor is an effective and safer alternative to tPA in rat stroke. Tomasi S, etal., PLoS One. 2011;6(7):e21999. Epub 2011 Jul 14.
34. Effects of C1 inhibitor and r-SP-C surfactant on oxygenation and histology in rats with lavage-induced acute lung injury. Vangerow B, etal., Intensive Care Med. 2001 Sep;27(9):1526-31.
35. Combined treatment with C1 esterase inhibitor and antithrombin III improves survival in severe acute experimental pancreatitis. Yamaguchi H, etal., Gut. 1997 Apr;40(4):531-5.
36. Effects of C1 inhibitor on endothelial cell activation in a rat hind limb ischemia-reperfusion injury model. Zhang S, etal., J Vasc Surg. 2018 Jan 27. pii: S0741-5214(17)32653-8. doi: 10.1016/j.jvs.2017.10.072.
37. Safety and efficacy of prophylactic nanofiltered C1-inhibitor in hereditary angioedema. Zuraw BL and Kalfus I, Am J Med. 2012 Sep;125(9):938.e1-7. doi: 10.1016/j.amjmed.2012.02.020. Epub 2012 Jul 14.
38. C1 inhibitor treatment improves host defense in pneumococcal meningitis in rats and mice. Zwijnenburg PJ, etal., J Infect Dis. 2007 Jul 1;196(1):115-23. Epub 2007 May 17.
Additional References at PubMed
PMID:1339401   PMID:1363816   PMID:1451784   PMID:1531292   PMID:1684567   PMID:1885769   PMID:2026152   PMID:2118657   PMID:2154751   PMID:2296585   PMID:2323781   PMID:2365061  
PMID:2478116   PMID:2563376   PMID:2723063   PMID:3089875   PMID:3178731   PMID:3267220   PMID:3295045   PMID:3393514   PMID:3458172   PMID:3488058   PMID:3587308   PMID:3756141  
PMID:3965505   PMID:6282262   PMID:6416294   PMID:6604523   PMID:6980881   PMID:7586269   PMID:7749926   PMID:7814636   PMID:7883978   PMID:8172583   PMID:8529136   PMID:8755917  
PMID:9234243   PMID:9882449   PMID:10570951   PMID:10946292   PMID:11437612   PMID:11460008   PMID:11527969   PMID:11933207   PMID:12123444   PMID:12421980   PMID:12477932   PMID:12492481  
PMID:12539042   PMID:12754519   PMID:14568956   PMID:14635117   PMID:14718574   PMID:14760718   PMID:15096536   PMID:15174051   PMID:15325085   PMID:15489334   PMID:15583734   PMID:15596402  
PMID:15596403   PMID:15607116   PMID:15879149   PMID:15971231   PMID:16237761   PMID:16335952   PMID:16409206   PMID:16470590   PMID:16502470   PMID:16617246   PMID:17230419   PMID:17488724  
PMID:17498209   PMID:17502473   PMID:17521609   PMID:17709141   PMID:17908769   PMID:17916775   PMID:17976427   PMID:18022239   PMID:18035804   PMID:18535392   PMID:18586324   PMID:18758157  
PMID:18842294   PMID:19056867   PMID:19201015   PMID:19344414   PMID:19423540   PMID:19607829   PMID:19706314   PMID:19752569   PMID:19925520   PMID:20016407   PMID:20024535   PMID:20062564  
PMID:20120775   PMID:20161815   PMID:20237496   PMID:20306692   PMID:20351192   PMID:20406964   PMID:20438785   PMID:20532227   PMID:20628624   PMID:20736409   PMID:20800603   PMID:20804470  
PMID:21345278   PMID:21623829   PMID:21695123   PMID:21864911   PMID:21873635   PMID:21988832   PMID:22001489   PMID:22014012   PMID:22046132   PMID:22078245   PMID:22230421   PMID:22276768  
PMID:22456031   PMID:22456345   PMID:22483117   PMID:22516433   PMID:22831796   PMID:22882460   PMID:22994404   PMID:23123409   PMID:23251661   PMID:23265861   PMID:23318225   PMID:23376485  
PMID:23383108   PMID:23399388   PMID:23437219   PMID:23533145   PMID:23583915   PMID:23607270   PMID:23688413   PMID:23966370   PMID:24172014   PMID:24262729   PMID:24412907   PMID:24456027  
PMID:24468257   PMID:24565773   PMID:24981860   PMID:25037231   PMID:25053016   PMID:25056061   PMID:25208595   PMID:25352749   PMID:25359215   PMID:25369003   PMID:25800206   PMID:25800435  
PMID:25910212   PMID:26154504   PMID:26167880   PMID:26194112   PMID:26347576   PMID:26371246   PMID:26535898   PMID:26782794   PMID:26812872   PMID:26871637   PMID:26890881   PMID:26895475  
PMID:27187751   PMID:27197075   PMID:27338096   PMID:27818099   PMID:28135312   PMID:28194776   PMID:28484054   PMID:28514442   PMID:28595743   PMID:28675934   PMID:28742139   PMID:28758643  
PMID:28889214   PMID:29036225   PMID:29513108   PMID:29548426   PMID:29567681   PMID:29885370   PMID:30278448   PMID:30379966   PMID:30389558   PMID:30398465   PMID:30508583   PMID:30554660  
PMID:30685616   PMID:30784776   PMID:30817230   PMID:31273033   PMID:31334892   PMID:31397881   PMID:31409531   PMID:31933486   PMID:31982983   PMID:32065705   PMID:32163480   PMID:32179338  
PMID:32351099   PMID:32445210   PMID:32531085   PMID:32659156   PMID:32717572   PMID:32887189   PMID:32896191   PMID:33034800   PMID:33130967   PMID:33730015   PMID:33808005   PMID:33914953  
PMID:33961781   PMID:34348603   PMID:34844023   PMID:34871158   PMID:34971012   PMID:35156780   PMID:35821062   PMID:35959625   PMID:35996317   PMID:36385678   PMID:36515245   PMID:36724073  
PMID:36787826   PMID:37620742   PMID:37716525   PMID:38182098   PMID:38254961   PMID:38877850  


Genomics

Comparative Map Data
SERPING1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381157,597,685 - 57,614,848 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1157,597,387 - 57,619,171 (+)EnsemblGRCh38hg38GRCh38
GRCh371157,365,158 - 57,382,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361157,121,603 - 57,138,902 (+)NCBINCBI36Build 36hg18NCBI36
Build 341157,121,733 - 57,138,895NCBI
Celera1154,721,543 - 54,738,843 (+)NCBICelera
Cytogenetic Map11q12.1NCBI
HuRef1153,713,821 - 53,731,117 (+)NCBIHuRef
CHM1_11157,231,240 - 57,248,536 (+)NCBICHM1_1
T2T-CHM13v2.01157,547,859 - 57,565,023 (+)NCBIT2T-CHM13v2.0
Serping1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39284,595,704 - 84,605,748 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl284,595,731 - 84,605,788 (-)EnsemblGRCm39 Ensembl
GRCm38284,765,360 - 84,775,444 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl284,765,387 - 84,775,444 (-)EnsemblGRCm38mm10GRCm38
MGSCv37284,605,517 - 84,615,586 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36284,566,224 - 84,576,243 (-)NCBIMGSCv36mm8
Celera286,360,569 - 86,370,824 (-)NCBICelera
Cytogenetic Map2DNCBI
cM Map249.45NCBI
Serping1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8390,249,410 - 90,259,299 (-)NCBIGRCr8
mRatBN7.2369,842,726 - 69,852,583 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl369,842,739 - 69,852,034 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx373,224,542 - 73,233,831 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0381,823,206 - 81,832,495 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0379,582,111 - 79,591,395 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0372,161,230 - 72,171,109 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl372,161,189 - 72,171,078 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0378,681,813 - 78,691,622 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4367,968,808 - 67,978,102 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1367,865,179 - 67,874,474 (-)NCBI
Celera369,198,069 - 69,207,363 (-)NCBICelera
Cytogenetic Map3q24NCBI
Serping1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555112,545,285 - 2,557,982 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555112,545,337 - 2,557,850 (+)NCBIChiLan1.0ChiLan1.0
SERPING1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2958,754,075 - 58,771,341 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11159,773,949 - 59,791,183 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01152,838,502 - 52,855,781 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11156,309,685 - 56,326,639 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1156,309,686 - 56,326,639 (+)Ensemblpanpan1.1panPan2
SERPING1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11838,570,354 - 38,580,751 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1838,570,607 - 38,581,665 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1838,116,824 - 38,129,580 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01839,252,348 - 39,265,152 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1839,252,350 - 39,454,090 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11838,835,311 - 38,848,057 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01838,408,314 - 38,421,069 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01839,039,067 - 39,051,835 (-)NCBIUU_Cfam_GSD_1.0
Serping1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494714,797,581 - 14,810,679 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365814,908,458 - 4,924,645 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365814,911,403 - 4,924,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPING1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl213,324,158 - 13,338,663 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1213,324,160 - 13,338,826 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2212,957,676 - 12,972,291 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SERPING1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1115,617,122 - 15,634,540 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl115,616,674 - 15,633,855 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038112,967,736 - 112,984,582 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Serping1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248643,091,083 - 3,103,090 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248643,091,397 - 3,103,084 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SERPING1
682 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000062.3(SERPING1):c.1250-3T>G single nucleotide variant not provided [RCV000519192] Chr11:57614325 [GRCh38]
Chr11:57381798 [GRCh37]
Chr11:11q12.1		 uncertain significance
NG_009625.1:g.(13995_19163)_(19384_21774)del deletion Hereditary angioedema type 1 [RCV000004150] Chr11:11q11-q13.1 pathogenic
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) duplication Hereditary angioedema type 1 [RCV000004155] Chr11:57614345..57614346 [GRCh38]
Chr11:57381818..57381819 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1264del (p.Ser422fs) deletion Hereditary angioedema type 1 [RCV000004156] Chr11:57614338 [GRCh38]
Chr11:57381811 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1249+1G>T single nucleotide variant Hereditary angioedema type 1 [RCV000004157] Chr11:57611937 [GRCh38]
Chr11:57379410 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1306del (p.Leu436fs) deletion Hereditary angioedema type 1 [RCV000004158] Chr11:57614384 [GRCh38]
Chr11:57381857 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) insertion Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [RCV000004160] Chr11:57614435..57614436 [GRCh38]
Chr11:57381908..57381909 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.10:g.57597582C>T single nucleotide variant Hereditary angioedema type 1 [RCV000004162] Chr11:57597582 [GRCh38]
Chr11:57365055 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1183C>G (p.Leu395Val) single nucleotide variant not provided [RCV000518886] Chr11:57611870 [GRCh38]
Chr11:57379343 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) single nucleotide variant Hereditary angioedema type 1 [RCV000576890]|not provided [RCV001853828] Chr11:57611885 [GRCh38]
Chr11:57379358 [GRCh37]
Chr11:11q12.1		 pathogenic|uncertain significance
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) single nucleotide variant Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [RCV000004151] Chr11:57614450 [GRCh38]
Chr11:57381923 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) single nucleotide variant Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [RCV000004152]|Hereditary angioedema type 1 [RCV000768682]|Hereditary angioedema type 1 [RCV002482825]|Inborn genetic diseases [RCV002390090]|not provided [RCV000433404] Chr11:57614475 [GRCh38]
Chr11:57381948 [GRCh37]
Chr11:11q12.1		 pathogenic|conflicting interpretations of pathogenicity
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) single nucleotide variant Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [RCV000004153]|Hereditary angioedema type 1 [RCV000768683]|not provided [RCV000059084] Chr11:57614474 [GRCh38]
Chr11:57381947 [GRCh37]
Chr11:11q12.1		 pathogenic|not provided
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) single nucleotide variant Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [RCV000004154]|not provided [RCV000059083] Chr11:57614474 [GRCh38]
Chr11:57381947 [GRCh37]
Chr11:11q12.1		 pathogenic|not provided
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) single nucleotide variant Hereditary C1 esterase inhibitor deficiency - dysfunctional factor [RCV000004159] Chr11:57614439 [GRCh38]
Chr11:57381912 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1394C>T (p.Ala465Val) single nucleotide variant Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor [RCV000004161]|not provided [RCV003555910] Chr11:57614472 [GRCh38]
Chr11:57381945 [GRCh37]
Chr11:11q12.1		 pathogenic|uncertain significance
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000004163] Chr11:57602081 [GRCh38]
Chr11:57369554 [GRCh37]
Chr11:11q12.1		 pathogenic
GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3 copy number gain See cases [RCV000051908] Chr11:57372226..57936167 [GRCh38]
Chr11:57139699..57703639 [GRCh37]
Chr11:56896275..57460215 [NCBI36]
Chr11:11q12.1		 uncertain significance
NM_000062.2(SERPING1):c.890-8C>T single nucleotide variant Malignant melanoma [RCV000069504] Chr11:57606400 [GRCh38]
Chr11:57373873 [GRCh37]
Chr11:57130449 [NCBI36]
Chr11:11q12.1		 not provided
NM_000062.2(SERPING1):c.924C>T (p.Thr308=) single nucleotide variant Malignant melanoma [RCV000069505] Chr11:57606442 [GRCh38]
Chr11:57373915 [GRCh37]
Chr11:57130491 [NCBI36]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln) single nucleotide variant Hereditary angioedema type 1 [RCV004586533]|not provided [RCV000059080] Chr11:57614367 [GRCh38]
Chr11:57381840 [GRCh37]
Chr11:11q12.1		 pathogenic|not provided
NM_000062.3(SERPING1):c.1322T>C (p.Met441Thr) single nucleotide variant not provided [RCV000059081] Chr11:57614400 [GRCh38]
Chr11:57381873 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.1340T>C (p.Leu447Pro) single nucleotide variant not provided [RCV000059082] Chr11:57614418 [GRCh38]
Chr11:57381891 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.1397G>T (p.Arg466Leu) single nucleotide variant not provided [RCV000059085] Chr11:57614475 [GRCh38]
Chr11:57381948 [GRCh37]
Chr11:11q12.1		 likely pathogenic|not provided
NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly) single nucleotide variant not provided [RCV000059086] Chr11:57614496 [GRCh38]
Chr11:57381969 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.1490A>G (p.Asp497Gly) single nucleotide variant Hereditary angioedema type 1 [RCV004579536]|not provided [RCV000059087] Chr11:57614568 [GRCh38]
Chr11:57382041 [GRCh37]
Chr11:11q12.1		 likely pathogenic|not provided
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) single nucleotide variant Hereditary angioedema type 1 [RCV000316871]|not provided [RCV000059088]|not specified [RCV002247461] Chr11:57600179 [GRCh38]
Chr11:57367652 [GRCh37]
Chr11:11q12.1		 benign|likely benign|not provided
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys) single nucleotide variant Hereditary angioedema type 1 [RCV004586534]|not provided [RCV000059089] Chr11:57600288 [GRCh38]
Chr11:57367761 [GRCh37]
Chr11:11q12.1		 pathogenic|not provided
NM_000062.3(SERPING1):c.509C>T (p.Ser170Phe) single nucleotide variant not provided [RCV000059090] Chr11:57600336 [GRCh38]
Chr11:57367809 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) single nucleotide variant Hereditary angioedema type 1 [RCV000768681]|not provided [RCV000059091] Chr11:57600377 [GRCh38]
Chr11:57367850 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic|not provided
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004691742]|not provided [RCV000059092] Chr11:57606013 [GRCh38]
Chr11:57373486 [GRCh37]
Chr11:11q12.1		 pathogenic|not provided
NM_000062.3(SERPING1):c.695T>A (p.Ile232Lys) single nucleotide variant Inborn genetic diseases [RCV002362696]|not provided [RCV000059093] Chr11:57606019 [GRCh38]
Chr11:57373492 [GRCh37]
Chr11:11q12.1		 uncertain significance|not provided
NM_000062.3(SERPING1):c.895T>C (p.Trp299Arg) single nucleotide variant not provided [RCV000059094] Chr11:57606413 [GRCh38]
Chr11:57373886 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.686-9T>C single nucleotide variant Hereditary angioedema type 1 [RCV000318031]|not provided [RCV000077810] Chr11:57606001 [GRCh38]
Chr11:57373474 [GRCh37]
Chr11:11q12.1		 benign|likely benign|not provided
NM_000062.3(SERPING1):c.51G>A (p.Gly17=) single nucleotide variant not provided [RCV000077811] Chr11:57598321 [GRCh38]
Chr11:57365794 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.685+88G>A single nucleotide variant Hereditary angioedema type 1 [RCV001263125]|not provided [RCV000077812] Chr11:57602257 [GRCh38]
Chr11:57602257..57602258 [GRCh38]
Chr11:57369730 [GRCh37]
Chr11:57369730..57369731 [GRCh37]
Chr11:11q12.1		 benign|not provided
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) single nucleotide variant Hereditary angioedema type 1 [RCV000576893] Chr11:57614463 [GRCh38]
Chr11:57381936 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.9:g.(?_57365055)_(57428908_?)dup duplication not provided [RCV001907904] Chr11:57365055..57428908 [GRCh37]
Chr11:11q12.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 copy number gain See cases [RCV000142757] Chr11:55319519..58998777 [GRCh38]
Chr11:55086995..58766250 [GRCh37]
Chr11:54843571..58522826 [NCBI36]
Chr11:11q11-12.1		 pathogenic
NM_000062.3(SERPING1):c.1030-20A>G single nucleotide variant Hereditary angioedema type 1 [RCV000608451]|not provided [RCV001513857]|not specified [RCV000246192] Chr11:57611697 [GRCh38]
Chr11:57379170 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) single nucleotide variant Hereditary angioedema type 1 [RCV000616583]|Inborn genetic diseases [RCV002392753]|not provided [RCV001513858]|not specified [RCV000250736] Chr11:57614516 [GRCh38]
Chr11:57381989 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.51G>C (p.Gly17=) single nucleotide variant Hereditary angioedema type 1 [RCV000307049]|not provided [RCV003718166] Chr11:57598321 [GRCh38]
Chr11:57365794 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.849C>T (p.Ser283=) single nucleotide variant Hereditary angioedema type 1 [RCV000351666]|Inborn genetic diseases [RCV002411196]|not provided [RCV000861270]|not specified [RCV000616333] Chr11:57606173 [GRCh38]
Chr11:57373646 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) single nucleotide variant Hereditary angioedema type 1 [RCV000404962]|Hereditary angioedema type 1 [RCV000768088]|not provided [RCV000861019] Chr11:57598275 [GRCh38]
Chr11:57365748 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.-24G>C single nucleotide variant Hereditary angioedema type 1 [RCV000312741] Chr11:57597721 [GRCh38]
Chr11:57365194 [GRCh37]
Chr11:11q12.1		 benign|uncertain significance
NM_000062.3(SERPING1):c.-36A>T single nucleotide variant Hereditary angioedema type 1 [RCV000408080] Chr11:57597709 [GRCh38]
Chr11:57365182 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.2(SERPING1):c.-99C>G single nucleotide variant Hereditary angioedema type 1 [RCV000295139]|SERPING1-related disorder [RCV003950020] Chr11:57597646 [GRCh38]
Chr11:57365119 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) single nucleotide variant Hereditary angioedema type 1 [RCV000296699]|Inborn genetic diseases [RCV002392839]|not provided [RCV000860805]|not specified [RCV000430524] Chr11:57606075 [GRCh38]
Chr11:57373548 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) single nucleotide variant Hereditary angioedema type 1 [RCV000364086]|not provided [RCV001859812] Chr11:57599944 [GRCh38]
Chr11:57367417 [GRCh37]
Chr11:11q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000062.3(SERPING1):c.468C>T (p.Ala156=) single nucleotide variant Hereditary angioedema type 1 [RCV000262879]|Inborn genetic diseases [RCV002328804]|not provided [RCV000861791] Chr11:57600295 [GRCh38]
Chr11:57367768 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.167T>C (p.Val56Ala) single nucleotide variant Hereditary angioedema type 1 [RCV000320487]|SERPING1-related disorder [RCV003920257]|not provided [RCV000861052] Chr11:57599994 [GRCh38]
Chr11:57367467 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.-21T>C single nucleotide variant Hereditary angioedema type 1 [RCV000365154]|not provided [RCV001653502]|not specified [RCV001723889] Chr11:57598250 [GRCh38]
Chr11:57365723 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.465C>T (p.His155=) single nucleotide variant Hereditary angioedema type 1 [RCV000371540]|Inborn genetic diseases [RCV003298367]|not provided [RCV000861779] Chr11:57600292 [GRCh38]
Chr11:57367765 [GRCh37]
Chr11:11q12.1		 benign|likely benign|uncertain significance
NM_000062.3(SERPING1):c.52-1G>A single nucleotide variant Hereditary angioedema type 1 [RCV004595502]|not provided [RCV000329390] Chr11:57599878 [GRCh38]
Chr11:57367351 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.135C>T (p.Val45=) single nucleotide variant Hereditary angioedema type 1 [RCV000265421] Chr11:57599962 [GRCh38]
Chr11:57367435 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1218C>T (p.Ser406=) single nucleotide variant Hereditary angioedema type 1 [RCV000382970]|not provided [RCV000861413]|not specified [RCV000603020] Chr11:57611905 [GRCh38]
Chr11:57379378 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) single nucleotide variant Hereditary angioedema type 1 [RCV000266502]|not provided [RCV002520729] Chr11:57600112 [GRCh38]
Chr11:57367585 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) single nucleotide variant Hereditary angioedema type 1 [RCV000361136]|SERPING1-related disorder [RCV004755861]|not provided [RCV001850619] Chr11:57600054 [GRCh38]
Chr11:57367527 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.686-5C>G single nucleotide variant Hereditary angioedema type 1 [RCV000386360]|not provided [RCV001795925] Chr11:57606005 [GRCh38]
Chr11:57373478 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.51+5G>T single nucleotide variant not provided [RCV000522906] Chr11:57598326 [GRCh38]
Chr11:57365799 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1121T>C (p.Leu374Pro) single nucleotide variant not provided [RCV000489312] Chr11:57611808 [GRCh38]
Chr11:57379281 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.936del (p.His314fs) deletion not provided [RCV000489334] Chr11:57606452 [GRCh38]
Chr11:57373925 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.283A>C (p.Thr95Pro) single nucleotide variant not provided [RCV001573519] Chr11:57600110 [GRCh38]
Chr11:57367583 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1397G>C (p.Arg466Pro) single nucleotide variant not provided [RCV000490187] Chr11:57614475 [GRCh38]
Chr11:57381948 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1458_1465delinsA (p.His486fs) indel not provided [RCV000521406] Chr11:57614536..57614543 [GRCh38]
Chr11:57382009..57382016 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.2(SERPING1):c.-99dup duplication Hereditary angioneurotic edema [RCV000334747] Chr11:57597638..57597639 [GRCh38]
Chr11:57365111..57365112 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.-56T>G single nucleotide variant Hereditary angioedema type 1 [RCV000352407] Chr11:57597689 [GRCh38]
Chr11:57365162 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.2(SERPING1):c.-105C>A single nucleotide variant Hereditary angioedema type 1 [RCV000408070]|SERPING1-related disorder [RCV004755860] Chr11:57597640 [GRCh38]
Chr11:57365113 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) microsatellite Hereditary angioedema type 1 [RCV000768685]|not provided [RCV000598998] Chr11:57614428..57614429 [GRCh38]
Chr11:57381901..57381902 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.166del (p.Val56fs) deletion not provided [RCV000599141] Chr11:57599993 [GRCh38]
Chr11:57367466 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) single nucleotide variant Hereditary angioedema type 1 [RCV000768684]|not provided [RCV000423987] Chr11:57606195 [GRCh38]
Chr11:57373668 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000062.3(SERPING1):c.589C>G (p.Leu197Val) single nucleotide variant not provided [RCV000483273] Chr11:57602073 [GRCh38]
Chr11:57369546 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.856del (p.Arg286fs) deletion not provided [RCV000482510] Chr11:57606178 [GRCh38]
Chr11:57373651 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1169_1175del (p.Lys390fs) deletion not provided [RCV000482881] Chr11:57611852..57611858 [GRCh38]
Chr11:57379325..57379331 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.512C>T (p.Pro171Leu) single nucleotide variant not provided [RCV000485353] Chr11:57600339 [GRCh38]
Chr11:57367812 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.279G>A (p.Glu93=) single nucleotide variant Inborn genetic diseases [RCV002436371]|not provided [RCV002056702]|not specified [RCV000456111] Chr11:57600106 [GRCh38]
Chr11:57367579 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004691788]|not provided [RCV000497385] Chr11:57606076 [GRCh38]
Chr11:57373549 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr) single nucleotide variant Angioedema [RCV000490705] Chr11:57614553 [GRCh38]
Chr11:57382026 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000508612] Chr11:57606471 [GRCh38]
Chr11:57373944 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.587T>A (p.Ile196Asn) single nucleotide variant Angioedema [RCV004579542]|Hereditary angioedema type 1 [RCV000508641] Chr11:57602071 [GRCh38]
Chr11:57369544 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.550+745_685+308del deletion Hereditary angioedema type 1 [RCV000508675] Chr11:57601067..57602422 [GRCh38]
Chr11:57368540..57369895 [GRCh37]
Chr11:11q12.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) indel Hereditary angioedema type 1 [RCV000576891] Chr11:57602130 [GRCh38]
Chr11:57369603 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.356C>G (p.Thr119Ser) single nucleotide variant Inborn genetic diseases [RCV003299984] Chr11:57600183 [GRCh38]
Chr11:57367656 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.615dup (p.Val206fs) duplication Hereditary angioedema type 1 [RCV000677372] Chr11:57602098..57602099 [GRCh38]
Chr11:57369571..57369572 [GRCh37]
Chr11:11q12.1		 pathogenic
GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3 copy number gain not provided [RCV000683370] Chr11:49313405..59008426 [GRCh37]
Chr11:11p11.12-q12.1		 uncertain significance
NM_000062.3(SERPING1):c.415G>T (p.Glu139Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004690531] Chr11:57600242 [GRCh38]
Chr11:57367715 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1350dup (p.Glu451fs) duplication Hereditary angioedema type 1 [RCV004813499] Chr11:57614427..57614428 [GRCh38]
Chr11:57381900..57381901 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000768687] Chr11:57606530 [GRCh38]
Chr11:57374003 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000768693]|not provided [RCV001855976] Chr11:57614498 [GRCh38]
Chr11:57381971 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) deletion Hereditary angioedema type 1 [RCV000768694] Chr11:57611793 [GRCh38]
Chr11:57379266 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs) deletion Hereditary angioedema type 1 [RCV000768695] Chr11:57602069..57602072 [GRCh38]
Chr11:57369542..57369545 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.279dup (p.Pro94fs) duplication not provided [RCV001574037]|not specified [RCV001726599] Chr11:57600105..57600106 [GRCh38]
Chr11:57367578..57367579 [GRCh37]
Chr11:11q12.1		 benign|likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000758137] Chr11:57599882 [GRCh38]
Chr11:57367355 [GRCh37]
Chr11:11q12.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q12.1(chr11:57147016-57667222)x3 copy number gain not provided [RCV000750056] Chr11:57147016..57667222 [GRCh37]
Chr11:11q12.1		 benign
GRCh37/hg19 11q12.1(chr11:57306011-57669349)x3 copy number gain not provided [RCV000750057] Chr11:57306011..57669349 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1104del (p.Asp369fs) deletion Hereditary angioedema type 1 [RCV000853399] Chr11:57611790 [GRCh38]
Chr11:57379263 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000758138] Chr11:57611934 [GRCh38]
Chr11:57379407 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.135C>G (p.Val45=) single nucleotide variant SERPING1-related disorder [RCV003978068]|not provided [RCV000927335] Chr11:57599962 [GRCh38]
Chr11:57367435 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.9del (p.Arg4fs) deletion Hereditary angioedema type 1 [RCV001030448] Chr11:57598278 [GRCh38]
Chr11:57365751 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.451C>T (p.Leu151=) single nucleotide variant Inborn genetic diseases [RCV002336792]|not provided [RCV000867443] Chr11:57600278 [GRCh38]
Chr11:57367751 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.846C>T (p.Pro282=) single nucleotide variant not provided [RCV000868878] Chr11:57606170 [GRCh38]
Chr11:57373643 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.491_502del (p.Glu164_Met167del) deletion Hereditary angioedema type 1 [RCV000856829] Chr11:57600315..57600326 [GRCh38]
Chr11:57367788..57367799 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.550+9C>G single nucleotide variant Hereditary angioedema type 1 [RCV001107853]|SERPING1-related disorder [RCV003908151]|not provided [RCV000861217] Chr11:57600386 [GRCh38]
Chr11:57367859 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) microsatellite Hereditary angioedema type 1 [RCV000768688]|Hereditary angioedema type 1 [RCV005049683] Chr11:57599929..57599930 [GRCh38]
Chr11:57367402..57367403 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) single nucleotide variant Hereditary angioedema type 1 [RCV000768692] Chr11:57598271 [GRCh38]
Chr11:57365744 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000768686]|SERPING1-related disorder [RCV003392582]|not provided [RCV001008644] Chr11:57614558 [GRCh38]
Chr11:57382031 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) indel Hereditary angioedema type 1 [RCV000768689] Chr11:57602158..57602159 [GRCh38]
Chr11:57369631..57369632 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs) deletion Hereditary angioedema type 1 [RCV000768690] Chr11:57600167..57600170 [GRCh38]
Chr11:57367640..57367643 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) single nucleotide variant Hereditary angioedema type 1 [RCV000768691]|not provided [RCV003558567] Chr11:57598271 [GRCh38]
Chr11:57365744 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000856823] Chr11:57599951 [GRCh38]
Chr11:57367424 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1453C>G (p.Gln485Glu) single nucleotide variant not provided [RCV000994636] Chr11:57614531 [GRCh38]
Chr11:57382004 [GRCh37]
Chr11:11q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) duplication Hereditary angioedema type 1 [RCV000851277] Chr11:57602080..57602081 [GRCh38]
Chr11:57369553..57369554 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1249+5G>C single nucleotide variant Angioedema [RCV000850287] Chr11:57611941 [GRCh38]
Chr11:57379414 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp) single nucleotide variant Angioedema [RCV000850286] Chr11:57600196 [GRCh38]
Chr11:57367669 [GRCh37]
Chr11:11q12.1		 uncertain significance
Single allele duplication not provided [RCV000844966] Chr11:55033164..57518726 [GRCh37]
Chr11:11q11-12.1		 not provided
NM_000062.3(SERPING1):c.51+1del deletion Angioedema [RCV000850285] Chr11:57598319 [GRCh38]
Chr11:57365792 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1409del (p.Val470fs) deletion not provided [RCV001008176] Chr11:57614487 [GRCh38]
Chr11:57381960 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr) single nucleotide variant Hereditary angioedema type 1 [RCV000851273] Chr11:57606202 [GRCh38]
Chr11:57373675 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000851278] Chr11:57614524 [GRCh38]
Chr11:57381997 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.239C>G (p.Ala80Gly) single nucleotide variant Hereditary angioedema type 1 [RCV000851279] Chr11:57600066 [GRCh38]
Chr11:57367539 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.347del (p.Gln116fs) deletion Hereditary angioedema type 1 [RCV000851280] Chr11:57600174 [GRCh38]
Chr11:57367647 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.508del (p.Ser170fs) deletion Hereditary angioedema type 1 [RCV000851281] Chr11:57600332 [GRCh38]
Chr11:57367805 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) single nucleotide variant Hereditary angioedema type 1 [RCV000851274]|not provided [RCV001759640] Chr11:57606426 [GRCh38]
Chr11:57373899 [GRCh37]
Chr11:11q12.1		 pathogenic|uncertain significance
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) single nucleotide variant Hereditary angioedema type 1 [RCV000851275] Chr11:57611723 [GRCh38]
Chr11:57379196 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer) duplication Hereditary angioedema type 1 [RCV000851276] Chr11:57614419..57614420 [GRCh38]
Chr11:57381892..57381893 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) single nucleotide variant Hereditary angioedema type 1 [RCV000851282]|not provided [RCV003558613] Chr11:57614495 [GRCh38]
Chr11:57381968 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) deletion Hereditary angioedema type 1 [RCV000851283] Chr11:57611867 [GRCh38]
Chr11:57379340 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) single nucleotide variant Hereditary angioedema type 1 [RCV000851284] Chr11:57614451 [GRCh38]
Chr11:57381924 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1038_1052del (p.Gln346_Ser350del) deletion Hereditary angioedema type 1 [RCV000851285] Chr11:57611723..57611737 [GRCh38]
Chr11:57379196..57379210 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.2(SERPING1):c.-94C>G single nucleotide variant Hereditary angioedema type 1 [RCV001104144] Chr11:57597651 [GRCh38]
Chr11:57365124 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys) single nucleotide variant Hereditary angioedema type 1 [RCV001107207]|not provided [RCV001430413] Chr11:57599996 [GRCh38]
Chr11:57367469 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1078C>T (p.Pro360Ser) single nucleotide variant not provided [RCV003105040] Chr11:57611765 [GRCh38]
Chr11:57379238 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.933A>G (p.Glu311=) single nucleotide variant not provided [RCV000870458] Chr11:57606451 [GRCh38]
Chr11:57373924 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.129G>A (p.Gly43=) single nucleotide variant Inborn genetic diseases [RCV003338830]|SERPING1-related disorder [RCV003965668]|not provided [RCV000863375] Chr11:57599956 [GRCh38]
Chr11:57367429 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.968C>T (p.Pro323Leu) single nucleotide variant not provided [RCV000861764] Chr11:57606486 [GRCh38]
Chr11:57373959 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser) single nucleotide variant Hereditary angioedema type 1 [RCV001107208]|Inborn genetic diseases [RCV002451322]|not provided [RCV001436658] Chr11:57600071 [GRCh38]
Chr11:57367544 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu) single nucleotide variant Hereditary angioedema type 1 [RCV001107209] Chr11:57600120 [GRCh38]
Chr11:57367593 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) single nucleotide variant Hereditary angioedema type 1 [RCV001107210]|not provided [RCV003769102] Chr11:57600157 [GRCh38]
Chr11:57367630 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1029+384A>G single nucleotide variant Hereditary angioedema type 1 [RCV001090005] Chr11:57606931 [GRCh38]
Chr11:57374404 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.551-162_551-154del deletion not provided [RCV001637270] Chr11:57601856..57601864 [GRCh38]
Chr11:57369329..57369337 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser) single nucleotide variant Hereditary angioedema type 1 [RCV001102615] Chr11:57606196 [GRCh38]
Chr11:57373669 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile) single nucleotide variant Hereditary angioedema type 1 [RCV001102618]|Inborn genetic diseases [RCV002320364]|not provided [RCV001491789] Chr11:57611851 [GRCh38]
Chr11:57379324 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr) single nucleotide variant Hereditary angioedema type 1 [RCV001107852] Chr11:57600324 [GRCh38]
Chr11:57367797 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp) single nucleotide variant Hereditary angioedema type 1 [RCV001107854]|not provided [RCV001856439] Chr11:57606045 [GRCh38]
Chr11:57373518 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly) single nucleotide variant Hereditary angioedema type 1 [RCV001102614] Chr11:57606180 [GRCh38]
Chr11:57373653 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1029+5G>T single nucleotide variant Hereditary angioedema type 1 [RCV001102617]|not provided [RCV002069713] Chr11:57606552 [GRCh38]
Chr11:57374025 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp) single nucleotide variant Hereditary angioedema type 1 [RCV001102619]|Inborn genetic diseases [RCV004960449] Chr11:57614487 [GRCh38]
Chr11:57381960 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1434C>T (p.Leu478=) single nucleotide variant Hereditary angioedema type 1 [RCV001102620]|not provided [RCV002554996] Chr11:57614512 [GRCh38]
Chr11:57381985 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.551-155_551-154del deletion not provided [RCV001708282] Chr11:57601856..57601857 [GRCh38]
Chr11:57369329..57369330 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.685+315T>C single nucleotide variant not provided [RCV001684785] Chr11:57602484 [GRCh38]
Chr11:57369957 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.-22-155G>T single nucleotide variant Hereditary angioedema type 1 [RCV001090004] Chr11:57598094 [GRCh38]
Chr11:57365567 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala) single nucleotide variant Hereditary angioedema type 1 [RCV001104452]|not provided [RCV001519541] Chr11:57599969 [GRCh38]
Chr11:57367442 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) single nucleotide variant Hereditary angioedema type 1 [RCV001102616]|not provided [RCV003669186] Chr11:57606499 [GRCh38]
Chr11:57373972 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.164del (p.Phe55fs) deletion not provided [RCV001008802] Chr11:57599990 [GRCh38]
Chr11:57367463 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.2(SERPING1):c.-100C>G single nucleotide variant Hereditary angioedema type 1 [RCV001104143]|SERPING1-related disorder [RCV003963048] Chr11:57597645 [GRCh38]
Chr11:57365118 [GRCh37]
Chr11:11q12.1		 benign|uncertain significance
NM_000062.3(SERPING1):c.*66T>C single nucleotide variant Hereditary angioedema type 1 [RCV001104536] Chr11:57614647 [GRCh38]
Chr11:57382120 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro) single nucleotide variant Hereditary angioedema type 1 [RCV001253494] Chr11:57611880 [GRCh38]
Chr11:57379353 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1030-1513del deletion Hereditary angioedema type 1 [RCV001263112] Chr11:57610204 [GRCh38]
Chr11:57377677 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.685+1100C>T single nucleotide variant Hereditary angioedema type 1 [RCV001263127] Chr11:57603269 [GRCh38]
Chr11:57603269..57603270 [GRCh38]
Chr11:57370742 [GRCh37]
Chr11:57370742..57370743 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.686-1572G>T single nucleotide variant Hereditary angioedema type 1 [RCV001263128] Chr11:57604438 [GRCh38]
Chr11:57371911 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.686-1565G>A single nucleotide variant Hereditary angioedema type 1 [RCV001263129] Chr11:57604445 [GRCh38]
Chr11:57371918 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1029+851C>G single nucleotide variant Hereditary angioedema type 1 [RCV001263137] Chr11:57607398 [GRCh38]
Chr11:57374871 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1029+926G>T single nucleotide variant Hereditary angioedema type 1 [RCV001263138] Chr11:57607473 [GRCh38]
Chr11:57374946 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1029+1497A>G single nucleotide variant Hereditary angioedema type 1 [RCV001263140] Chr11:57608044 [GRCh38]
Chr11:57375517 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) single nucleotide variant Hereditary angioedema type 1 [RCV001258393] Chr11:57606503 [GRCh38]
Chr11:57373976 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.403_418del (p.Ser135fs) deletion Hereditary angioedema type 1 [RCV004690530] Chr11:57600229..57600244 [GRCh38]
Chr11:57367702..57367717 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1265del (p.Ser422fs) deletion Hereditary angioedema type 1 [RCV004596002] Chr11:57614343 [GRCh38]
Chr11:57381816 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1029+260G>A single nucleotide variant Hereditary angioedema type 1 [RCV001263135] Chr11:57606807 [GRCh38]
Chr11:57374280 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1029+2111G>A single nucleotide variant Hereditary angioedema type 1 [RCV001263142] Chr11:57608658 [GRCh38]
Chr11:57608658..57608659 [GRCh38]
Chr11:57376131 [GRCh37]
Chr11:57376131..57376132 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) insertion Hereditary angioedema type 1 [RCV001258394] Chr11:57611920..57611921 [GRCh38]
Chr11:57379393..57379394 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.403_404del (p.His136fs) microsatellite Hereditary angioedema type 1 [RCV004690529] Chr11:57600227..57600228 [GRCh38]
Chr11:57367700..57367701 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) microsatellite Hereditary angioedema type 1 [RCV001258389] Chr11:57600136..57600139 [GRCh38]
Chr11:57367609..57367612 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter) single nucleotide variant not provided [RCV001311767] Chr11:57611936 [GRCh38]
Chr11:57379409 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.52-130C>T single nucleotide variant Hereditary angioedema type 1 [RCV001263120]|not provided [RCV001692366] Chr11:57599749 [GRCh38]
Chr11:57367222 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1030-1975G>C single nucleotide variant Hereditary angioedema type 1 [RCV001263111] Chr11:57609742 [GRCh38]
Chr11:57377215 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1250-282T>C single nucleotide variant Hereditary angioedema type 1 [RCV001263117]|not provided [RCV001683759] Chr11:57614046 [GRCh38]
Chr11:57381519 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.52-696C>T single nucleotide variant Hereditary angioedema type 1 [RCV001263119] Chr11:57599183 [GRCh38]
Chr11:57366656 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1250-154C>G single nucleotide variant Hereditary angioedema type 1 [RCV001263126]|not provided [RCV004707579] Chr11:57614174 [GRCh38]
Chr11:57381647 [GRCh37]
Chr11:11q12.1		 benign|likely benign
NM_000062.3(SERPING1):c.1029+2110T>C single nucleotide variant Hereditary angioedema type 1 [RCV001263141] Chr11:57608657 [GRCh38]
Chr11:57376130 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1030-1222A>G single nucleotide variant Hereditary angioedema type 1 [RCV001263113] Chr11:57610495 [GRCh38]
Chr11:57377968 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1250-538T>C single nucleotide variant Hereditary angioedema type 1 [RCV001263116] Chr11:57613790 [GRCh38]
Chr11:57613790..57613791 [GRCh38]
Chr11:57381263 [GRCh37]
Chr11:57381263..57381264 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.686-1333A>T single nucleotide variant Hereditary angioedema type 1 [RCV001263132] Chr11:57604677 [GRCh38]
Chr11:57372150 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.686-179A>G single nucleotide variant Hereditary angioedema type 1 [RCV001263134] Chr11:57605831 [GRCh38]
Chr11:57373304 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.195del (p.Leu65fs) deletion Hereditary angioedema type 1 [RCV001258388] Chr11:57600022 [GRCh38]
Chr11:57367495 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) duplication Hereditary angioedema type 1 [RCV001258390] Chr11:57602058..57602059 [GRCh38]
Chr11:57369531..57369532 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.902del (p.Thr301fs) deletion Hereditary angioedema type 1 [RCV001258392] Chr11:57606420 [GRCh38]
Chr11:57373893 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.764G>C (p.Ser255Thr) single nucleotide variant not provided [RCV001756628] Chr11:57606088 [GRCh38]
Chr11:57373561 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.473C>G (p.Ser158Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004691681] Chr11:57600300 [GRCh38]
Chr11:57367773 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1226T>C (p.Met409Thr) single nucleotide variant Hereditary angioedema type 1 [RCV004596630] Chr11:57611913 [GRCh38]
Chr11:57379386 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1379C>A (p.Ser460Tyr) single nucleotide variant Hereditary angioedema type 1 [RCV004597236] Chr11:57614457 [GRCh38]
Chr11:57381930 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.51+101G>A single nucleotide variant Hereditary angioedema type 1 [RCV001263110]|not provided [RCV001713075] Chr11:57598422 [GRCh38]
Chr11:57365895 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1030-1198G>T single nucleotide variant Hereditary angioedema type 1 [RCV001263114] Chr11:57610519 [GRCh38]
Chr11:57377992 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1030-865C>T single nucleotide variant Hereditary angioedema type 1 [RCV001263115] Chr11:57610852 [GRCh38]
Chr11:57378325 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.51+612GT[8] microsatellite Hereditary angioedema type 1 [RCV001263118] Chr11:57598932..57598933 [GRCh38]
Chr11:57366405..57366406 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.551-500C>G single nucleotide variant Hereditary angioedema type 1 [RCV001263121]|not provided [RCV004718833] Chr11:57601535 [GRCh38]
Chr11:57369008 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.551-495A>C single nucleotide variant Hereditary angioedema type 1 [RCV001263122]|not provided [RCV004718834] Chr11:57601540 [GRCh38]
Chr11:57369013 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.551-156A>G single nucleotide variant Hereditary angioedema type 1 [RCV001263123] Chr11:57601879 [GRCh38]
Chr11:57369352 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.551-155A>G single nucleotide variant Hereditary angioedema type 1 [RCV001263124]|not provided [RCV001655707] Chr11:57601880 [GRCh38]
Chr11:57369353 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.686-1488_686-1487insT insertion Hereditary angioedema type 1 [RCV001263130] Chr11:57604522..57604523 [GRCh38]
Chr11:57371995..57371996 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.686-1335T>A single nucleotide variant Hereditary angioedema type 1 [RCV001263131] Chr11:57604675 [GRCh38]
Chr11:57372148 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.686-957A>G single nucleotide variant Hereditary angioedema type 1 [RCV001263133] Chr11:57605053 [GRCh38]
Chr11:57605053..57605054 [GRCh38]
Chr11:57372526 [GRCh37]
Chr11:57372526..57372527 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1029+312T>C single nucleotide variant Hereditary angioedema type 1 [RCV001263136]|not provided [RCV001655708] Chr11:57606859 [GRCh38]
Chr11:57606859..57606860 [GRCh38]
Chr11:57374332 [GRCh37]
Chr11:57374332..57374333 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.1029+1443G>C single nucleotide variant Hereditary angioedema type 1 [RCV001263139] Chr11:57607990 [GRCh38]
Chr11:57375463 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.686-1G>A single nucleotide variant Hereditary angioedema type 1 [RCV001258391] Chr11:57606009 [GRCh38]
Chr11:57373482 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1216del (p.Ser406fs) deletion Hereditary angioedema type 1 [RCV004596629] Chr11:57611903 [GRCh38]
Chr11:57379376 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.130A>T (p.Lys44Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004597228] Chr11:57599957 [GRCh38]
Chr11:57367430 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1376C>A (p.Ala459Asp) single nucleotide variant Hereditary angioedema type 1 [RCV004597235] Chr11:57614454 [GRCh38]
Chr11:57381927 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1442T>C (p.Leu481Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004597237] Chr11:57614520 [GRCh38]
Chr11:57381993 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.667C>T (p.Gln223Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004691712]|not provided [RCV005103538] Chr11:57602151 [GRCh38]
Chr11:57369624 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro) indel not provided [RCV001280757] Chr11:57606497..57606498 [GRCh38]
Chr11:57373970..57373971 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1142C>T (p.Ala381Val) single nucleotide variant not provided [RCV001319222] Chr11:57611829 [GRCh38]
Chr11:57379302 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1325del (p.Gln442fs) deletion Hereditary angioedema type 1 [RCV004597230] Chr11:57614403 [GRCh38]
Chr11:57381876 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1367C>A (p.Ala456Glu) single nucleotide variant Hereditary angioedema type 1 [RCV004597233]|not provided [RCV005102059] Chr11:57614445 [GRCh38]
Chr11:57381918 [GRCh37]
Chr11:11q12.1		 pathogenic|uncertain significance
NM_000062.3(SERPING1):c.890-1G>A single nucleotide variant Hereditary angioedema type 1 [RCV004814784] Chr11:57606407 [GRCh38]
Chr11:57373880 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.749T>A (p.Val250Asp) single nucleotide variant not provided [RCV001321911] Chr11:57606073 [GRCh38]
Chr11:57373546 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.769G>A (p.Ala257Thr) single nucleotide variant not provided [RCV001322154] Chr11:57606093 [GRCh38]
Chr11:57373566 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1096C>T (p.Arg366Cys) single nucleotide variant not provided [RCV001320682] Chr11:57611783 [GRCh38]
Chr11:57379256 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1324C>G (p.Gln442Glu) single nucleotide variant Hereditary angioedema type 1 [RCV001334184] Chr11:57614402 [GRCh38]
Chr11:57381875 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1187T>C (p.Leu396Pro) single nucleotide variant not provided [RCV001297132] Chr11:57611874 [GRCh38]
Chr11:57379347 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.890-14C>G single nucleotide variant Hereditary angioedema type 1 [RCV001374628]|Inborn genetic diseases [RCV002377560]|SERPING1-related disorder [RCV003394016] Chr11:57606394 [GRCh38]
Chr11:57373867 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.404G>A (p.Ser135Asn) single nucleotide variant not provided [RCV001327035] Chr11:57600231 [GRCh38]
Chr11:57367704 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1489G>A (p.Asp497Asn) single nucleotide variant not provided [RCV001351735] Chr11:57614567 [GRCh38]
Chr11:57382040 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.685+13G>A single nucleotide variant not provided [RCV001399615] Chr11:57602182 [GRCh38]
Chr11:57369655 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.221C>A (p.Ser74Ter) single nucleotide variant not provided [RCV001388357] Chr11:57600048 [GRCh38]
Chr11:57367521 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.9:g.(?_57235082)_(57467503_?)del deletion not provided [RCV001390202] Chr11:57235082..57467503 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.284C>T (p.Thr95Ile) single nucleotide variant Inborn genetic diseases [RCV004038554]|SERPING1-related disorder [RCV004756245]|not provided [RCV001456350] Chr11:57600111 [GRCh38]
Chr11:57367584 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1196C>T (p.Pro399Leu) single nucleotide variant not provided [RCV001387009] Chr11:57611883 [GRCh38]
Chr11:57379356 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.133G>T (p.Val45Phe) single nucleotide variant not provided [RCV001417839] Chr11:57599960 [GRCh38]
Chr11:57367433 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.25A>C (p.Thr9Pro) single nucleotide variant not provided [RCV001517501] Chr11:57598295 [GRCh38]
Chr11:57365768 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter) single nucleotide variant Hereditary angioedema type 1 [RCV002244080] Chr11:57600173 [GRCh38]
Chr11:57367646 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.155A>G (p.Lys52Arg) single nucleotide variant Hereditary angioedema type 1 [RCV005051257]|not provided [RCV003108428] Chr11:57599982 [GRCh38]
Chr11:57367455 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002259399] Chr11:57614347 [GRCh38]
Chr11:57381820 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.402G>A (p.Glu134=) single nucleotide variant Inborn genetic diseases [RCV003162132]|not provided [RCV003109072] Chr11:57600229 [GRCh38]
Chr11:57367702 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.448T>C (p.Ser150Pro) single nucleotide variant not provided [RCV001756627] Chr11:57600275 [GRCh38]
Chr11:57367748 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.826C>T (p.Arg276Trp) single nucleotide variant not provided [RCV001754515] Chr11:57606150 [GRCh38]
Chr11:57373623 [GRCh37]
Chr11:11q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000062.3(SERPING1):c.798G>A (p.Val266=) single nucleotide variant not provided [RCV001753972] Chr11:57606122 [GRCh38]
Chr11:57373595 [GRCh37]
Chr11:11q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000062.3(SERPING1):c.1324C>T (p.Gln442Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004597229] Chr11:57614402 [GRCh38]
Chr11:57381875 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1431C>G (p.Phe477Leu) single nucleotide variant Angioedema [RCV004799173] Chr11:57614509 [GRCh38]
Chr11:57381982 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1319C>T (p.Ala440Val) single nucleotide variant not provided [RCV001950026] Chr11:57614397 [GRCh38]
Chr11:57381870 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1361del (p.Val454fs) deletion not provided [RCV001949529] Chr11:57614439 [GRCh38]
Chr11:57381912 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.615T>G (p.Cys205Trp) single nucleotide variant not provided [RCV002006113] Chr11:57602099 [GRCh38]
Chr11:57369572 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1049C>T (p.Ser350Phe) single nucleotide variant not provided [RCV001970907] Chr11:57611736 [GRCh38]
Chr11:57379209 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1214C>A (p.Thr405Asn) single nucleotide variant Inborn genetic diseases [RCV004955824]|not provided [RCV001928292] Chr11:57611901 [GRCh38]
Chr11:57379374 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1250-1G>C single nucleotide variant not provided [RCV002002457] Chr11:57614327 [GRCh38]
Chr11:57381800 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.431A>T (p.Asp144Val) single nucleotide variant not provided [RCV002025130] Chr11:57600258 [GRCh38]
Chr11:57367731 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.421G>A (p.Val141Met) single nucleotide variant not provided [RCV001970308] Chr11:57600248 [GRCh38]
Chr11:57367721 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.890-15_890-14insG insertion not provided [RCV001863648] Chr11:57606393..57606394 [GRCh38]
Chr11:57373866..57373867 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1481G>A (p.Arg494Gln) single nucleotide variant not provided [RCV001971708] Chr11:57614559 [GRCh38]
Chr11:57382032 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.500T>C (p.Met167Thr) single nucleotide variant not provided [RCV001892345] Chr11:57600327 [GRCh38]
Chr11:57367800 [GRCh37]
Chr11:11q12.1		 uncertain significance
NC_000011.9:g.(?_57373463)_(57374040_?)del deletion not provided [RCV001912717] Chr11:57373463..57374040 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1045C>T (p.Leu349Phe) single nucleotide variant SERPING1-related disorder [RCV003892966]|not provided [RCV001926702] Chr11:57611732 [GRCh38]
Chr11:57379205 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3 copy number gain not provided [RCV001825196] Chr11:57112299..57871866 [GRCh37]
Chr11:11q12.1		 not provided
NM_000062.3(SERPING1):c.1429T>C (p.Phe477Leu) single nucleotide variant Hereditary angioedema type 1 [RCV004596499]|not provided [RCV001949095] Chr11:57614507 [GRCh38]
Chr11:57381980 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.188C>G (p.Ser63Cys) single nucleotide variant not provided [RCV002020399] Chr11:57600015 [GRCh38]
Chr11:57367488 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1195C>G (p.Pro399Ala) single nucleotide variant not provided [RCV001966714] Chr11:57611882 [GRCh38]
Chr11:57379355 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.551-2del deletion not provided [RCV001983806] Chr11:57602033 [GRCh38]
Chr11:57369506 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.725C>T (p.Thr242Ile) single nucleotide variant not provided [RCV002004503] Chr11:57606049 [GRCh38]
Chr11:57373522 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1499C>T (p.Ala500Val) single nucleotide variant not provided [RCV002022672] Chr11:57614577 [GRCh38]
Chr11:57382050 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.935C>G (p.Pro312Arg) single nucleotide variant not provided [RCV001948732] Chr11:57606453 [GRCh38]
Chr11:57373926 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3 copy number gain not provided [RCV001829225] Chr11:57037091..57453575 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.808A>G (p.Thr270Ala) single nucleotide variant not provided [RCV001966097] Chr11:57606132 [GRCh38]
Chr11:57373605 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1369G>T (p.Ala457Ser) single nucleotide variant not provided [RCV002020558] Chr11:57614447 [GRCh38]
Chr11:57381920 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.551-1G>C single nucleotide variant Hereditary angioedema type 1 [RCV004691455]|not provided [RCV001890309] Chr11:57602034 [GRCh38]
Chr11:57369507 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.425T>C (p.Leu142Ser) single nucleotide variant not provided [RCV001940959] Chr11:57600252 [GRCh38]
Chr11:57367725 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.614G>A (p.Cys205Tyr) single nucleotide variant not provided [RCV001956072] Chr11:57602098 [GRCh38]
Chr11:57369571 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.65C>T (p.Ser22Leu) single nucleotide variant not provided [RCV001942713] Chr11:57599892 [GRCh38]
Chr11:57367365 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.647A>T (p.Lys216Ile) single nucleotide variant not provided [RCV001888611] Chr11:57602131 [GRCh38]
Chr11:57369604 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.549C>T (p.Leu183=) single nucleotide variant not provided [RCV001886879] Chr11:57600376 [GRCh38]
Chr11:57367849 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.123C>T (p.Gly41=) single nucleotide variant Inborn genetic diseases [RCV004955997]|not provided [RCV002037850] Chr11:57599950 [GRCh38]
Chr11:57367423 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.473C>T (p.Ser158Leu) single nucleotide variant not provided [RCV002033832] Chr11:57600300 [GRCh38]
Chr11:57367773 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.994del (p.Val332fs) deletion not provided [RCV001958710] Chr11:57606512 [GRCh38]
Chr11:57373985 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.685+2T>G single nucleotide variant not provided [RCV001963107] Chr11:57602171 [GRCh38]
Chr11:57369644 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.781C>T (p.Leu261Phe) single nucleotide variant not provided [RCV001881460] Chr11:57606105 [GRCh38]
Chr11:57373578 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.190A>G (p.Ser64Gly) single nucleotide variant not provided [RCV001961722] Chr11:57600017 [GRCh38]
Chr11:57367490 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1273C>T (p.Leu425Phe) single nucleotide variant not provided [RCV001905422] Chr11:57614351 [GRCh38]
Chr11:57381824 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.400G>T (p.Glu134Ter) single nucleotide variant not provided [RCV001951503] Chr11:57600227 [GRCh38]
Chr11:57367700 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.540G>C (p.Gln180His) single nucleotide variant not provided [RCV002031102] Chr11:57600367 [GRCh38]
Chr11:57367840 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.134T>C (p.Val45Ala) single nucleotide variant not provided [RCV001974371] Chr11:57599961 [GRCh38]
Chr11:57367434 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.827G>A (p.Arg276Gln) single nucleotide variant not provided [RCV001881325] Chr11:57606151 [GRCh38]
Chr11:57373624 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1174C>T (p.Gln392Ter) single nucleotide variant not provided [RCV001953847] Chr11:57611861 [GRCh38]
Chr11:57379334 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.136G>A (p.Ala46Thr) single nucleotide variant not provided [RCV002030674] Chr11:57599963 [GRCh38]
Chr11:57367436 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.298_309del (p.Ile100_Thr103del) deletion not provided [RCV001920105] Chr11:57600115..57600126 [GRCh38]
Chr11:57367588..57367599 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.305_317del (p.Pro102fs) deletion not provided [RCV001951502] Chr11:57600127..57600139 [GRCh38]
Chr11:57367600..57367612 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1072del (p.Leu358fs) deletion not provided [RCV001899034] Chr11:57611758 [GRCh38]
Chr11:57379231 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.9:g.(?_57365055)_(57367870_?)del deletion not provided [RCV001975173] Chr11:57365055..57367870 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.9:g.(?_57369488)_(57369662_?)del deletion not provided [RCV001922467] Chr11:57369488..57369662 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1253T>A (p.Phe418Tyr) single nucleotide variant not provided [RCV002034928] Chr11:57614331 [GRCh38]
Chr11:57381804 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.303A>G (p.Gln101=) single nucleotide variant not provided [RCV001900753] Chr11:57600130 [GRCh38]
Chr11:57367603 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) single nucleotide variant Hereditary angioedema type 1 [RCV002506949]|not provided [RCV001917099] Chr11:57606515 [GRCh38]
Chr11:57373988 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.31CTG[6] (p.Leu15dup) microsatellite SERPING1-related disorder [RCV004756307]|not provided [RCV001917244] Chr11:57598300..57598301 [GRCh38]
Chr11:57365773..57365774 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.51+1G>A single nucleotide variant not provided [RCV001875712] Chr11:57598322 [GRCh38]
Chr11:57365795 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1360G>T (p.Val454Leu) single nucleotide variant not provided [RCV001881173] Chr11:57614438 [GRCh38]
Chr11:57381911 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.685+1G>A single nucleotide variant not provided [RCV001958903] Chr11:57602170 [GRCh38]
Chr11:57369643 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.862G>A (p.Val288Ile) single nucleotide variant Inborn genetic diseases [RCV004038829]|not provided [RCV002046811] Chr11:57606186 [GRCh38]
Chr11:57373659 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1012_1016del (p.Gln338fs) deletion not provided [RCV002035458] Chr11:57606528..57606532 [GRCh38]
Chr11:57374001..57374005 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1378T>C (p.Ser460Pro) single nucleotide variant not provided [RCV001906971] Chr11:57614456 [GRCh38]
Chr11:57381929 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.685+1G>T single nucleotide variant not provided [RCV001938110] Chr11:57602170 [GRCh38]
Chr11:57369643 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.685+6T>C single nucleotide variant not provided [RCV001940520] Chr11:57602175 [GRCh38]
Chr11:57369648 [GRCh37]
Chr11:11q12.1		 uncertain significance
NC_000011.9:g.(?_57365055)_(57369662_?)del deletion not provided [RCV001960674] Chr11:57365055..57369662 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.641C>G (p.Thr214Arg) single nucleotide variant Inborn genetic diseases [RCV002361271]|SERPING1-related disorder [RCV003913462]|not provided [RCV001958002] Chr11:57602125 [GRCh38]
Chr11:57369598 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.988T>G (p.Tyr330Asp) single nucleotide variant not provided [RCV001921747] Chr11:57606506 [GRCh38]
Chr11:57373979 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.953C>T (p.Ser318Leu) single nucleotide variant not provided [RCV001958260] Chr11:57606471 [GRCh38]
Chr11:57373944 [GRCh37]
Chr11:11q12.1		 uncertain significance
NC_000011.9:g.(?_57369488)_(57369662_?)dup duplication not provided [RCV002050039] Chr11:57369488..57369662 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1283G>A (p.Cys428Tyr) single nucleotide variant not provided [RCV001975248] Chr11:57614361 [GRCh38]
Chr11:57381834 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1147A>G (p.Met383Val) single nucleotide variant Hereditary angioedema type 1 [RCV002208778] Chr11:57611834 [GRCh38]
Chr11:57379307 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1212G>A (p.Thr404=) single nucleotide variant not provided [RCV002110189] Chr11:57611899 [GRCh38]
Chr11:57379372 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.990C>T (p.Tyr330=) single nucleotide variant not provided [RCV002086157] Chr11:57606508 [GRCh38]
Chr11:57373981 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.768C>T (p.Asp256=) single nucleotide variant Inborn genetic diseases [RCV003307958]|SERPING1-related disorder [RCV003913690]|not provided [RCV002126793] Chr11:57606092 [GRCh38]
Chr11:57373565 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.550+11G>A single nucleotide variant not provided [RCV002133828] Chr11:57600388 [GRCh38]
Chr11:57367861 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.486G>A (p.Lys162=) single nucleotide variant not provided [RCV002076132] Chr11:57600313 [GRCh38]
Chr11:57367786 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.714T>C (p.Asn238=) single nucleotide variant not provided [RCV002088108] Chr11:57606038 [GRCh38]
Chr11:57373511 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1029+15T>C single nucleotide variant not provided [RCV002146201] Chr11:57606562 [GRCh38]
Chr11:57374035 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1249+20G>A single nucleotide variant not provided [RCV002094039] Chr11:57611956 [GRCh38]
Chr11:57379429 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.417G>A (p.Glu139=) single nucleotide variant not provided [RCV002174078] Chr11:57600244 [GRCh38]
Chr11:57367717 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1422G>A (p.Gln474=) single nucleotide variant Inborn genetic diseases [RCV004046417]|not provided [RCV002075981] Chr11:57614500 [GRCh38]
Chr11:57381973 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.207C>T (p.Asn69=) single nucleotide variant SERPING1-related disorder [RCV003958820]|not provided [RCV002094379] Chr11:57600034 [GRCh38]
Chr11:57367507 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.466G>A (p.Ala156Thr) single nucleotide variant not provided [RCV002168682] Chr11:57600293 [GRCh38]
Chr11:57367766 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.627C>G (p.Ala209=) single nucleotide variant not provided [RCV002114548] Chr11:57602111 [GRCh38]
Chr11:57369584 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1250-11T>G single nucleotide variant not provided [RCV002133260] Chr11:57614317 [GRCh38]
Chr11:57381790 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.551-16C>G single nucleotide variant not provided [RCV002105556] Chr11:57602019 [GRCh38]
Chr11:57369492 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.522C>T (p.Ile174=) single nucleotide variant SERPING1-related disorder [RCV003950981]|not provided [RCV002080388] Chr11:57600349 [GRCh38]
Chr11:57367822 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) single nucleotide variant Hereditary angioedema type 1 [RCV002208779]|Hereditary angioedema type 1 [RCV004595650] Chr11:57614528 [GRCh38]
Chr11:57382001 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.921A>G (p.Lys307=) single nucleotide variant SERPING1-related disorder [RCV004756351]|not provided [RCV002168148] Chr11:57606439 [GRCh38]
Chr11:57373912 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.27C>A (p.Thr9=) single nucleotide variant not provided [RCV002194821] Chr11:57598297 [GRCh38]
Chr11:57365770 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1395C>T (p.Ala465=) single nucleotide variant not provided [RCV002097127] Chr11:57614473 [GRCh38]
Chr11:57381946 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.890-12T>C single nucleotide variant not provided [RCV002212180] Chr11:57606396 [GRCh38]
Chr11:57373869 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1246T>C (p.Leu416=) single nucleotide variant not provided [RCV002199270] Chr11:57611933 [GRCh38]
Chr11:57379406 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1249+12C>A single nucleotide variant not provided [RCV002220841] Chr11:57611948 [GRCh38]
Chr11:57379421 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs) indel Hereditary angioedema with C1Inh deficiency [RCV002221651] Chr11:57606501..57606502 [GRCh38]
Chr11:57373974..57373975 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer) deletion Hereditary angioedema with C1Inh deficiency [RCV002221652] Chr11:57606535 [GRCh38]
Chr11:57374008 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.100C>A (p.Pro34Thr) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221653] Chr11:57599927 [GRCh38]
Chr11:57367400 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1051del (p.His351fs) deletion Hereditary angioedema with C1Inh deficiency [RCV002221654] Chr11:57611736 [GRCh38]
Chr11:57379209 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1094dup (p.His365fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221655] Chr11:57611780..57611781 [GRCh38]
Chr11:57379253..57379254 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1100T>G (p.Leu367Arg) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221656] Chr11:57611787 [GRCh38]
Chr11:57379260 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer) deletion Hereditary angioedema with C1Inh deficiency [RCV002221657]|not provided [RCV003565488] Chr11:57611872 [GRCh38]
Chr11:57379345 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221658] Chr11:57611879 [GRCh38]
Chr11:57379352 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004671425]|Hereditary angioedema with C1Inh deficiency [RCV002221659] Chr11:57611880 [GRCh38]
Chr11:57379353 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1249+2T>C single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221660] Chr11:57611938 [GRCh38]
Chr11:57379411 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004587197]|Hereditary angioedema with C1Inh deficiency [RCV002221661] Chr11:57614367 [GRCh38]
Chr11:57381840 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1379C>G (p.Ser460Cys) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221662] Chr11:57614457 [GRCh38]
Chr11:57381930 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1422G>C (p.Gln474His) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221663] Chr11:57614500 [GRCh38]
Chr11:57381973 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.172_181del (p.Pro58fs) deletion Hereditary angioedema with C1Inh deficiency [RCV002221664] Chr11:57599999..57600008 [GRCh38]
Chr11:57367472..57367481 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221665] Chr11:57614502 [GRCh38]
Chr11:57381975 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1425G>T (p.Gln475His) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221666] Chr11:57614503 [GRCh38]
Chr11:57381976 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.197dup (p.Thr67fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221667] Chr11:57600022..57600023 [GRCh38]
Chr11:57367495..57367496 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221668] Chr11:57600056 [GRCh38]
Chr11:57367529 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer) deletion Hereditary angioedema with C1Inh deficiency [RCV002221669] Chr11:57600056 [GRCh38]
Chr11:57367529 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004587198]|Hereditary angioedema with C1Inh deficiency [RCV002221670] Chr11:57600365 [GRCh38]
Chr11:57367838 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.550+1G>T single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221671] Chr11:57600378 [GRCh38]
Chr11:57367851 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.623dup (p.Ala209fs) duplication Hereditary angioedema type 1 [RCV004577957]|Hereditary angioedema with C1Inh deficiency [RCV002221672] Chr11:57602106..57602107 [GRCh38]
Chr11:57369579..57369580 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.216C>G (p.Thr72=) single nucleotide variant not provided [RCV002184415] Chr11:57600043 [GRCh38]
Chr11:57367516 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.429G>A (p.Gly143=) single nucleotide variant not provided [RCV002199746] Chr11:57600256 [GRCh38]
Chr11:57367729 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs) insertion Hereditary angioedema with C1Inh deficiency [RCV002250381] Chr11:57600157..57600158 [GRCh38]
Chr11:57367630..57367631 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.748_749del (p.Val250fs) deletion Hereditary angioedema with C1Inh deficiency [RCV002250382] Chr11:57606072..57606073 [GRCh38]
Chr11:57373545..57373546 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1113A>G (p.Glu371=) single nucleotide variant not provided [RCV002101869] Chr11:57611800 [GRCh38]
Chr11:57379273 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.996G>A (p.Val332=) single nucleotide variant not provided [RCV002117694] Chr11:57606514 [GRCh38]
Chr11:57373987 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.519C>T (p.Ser173=) single nucleotide variant not provided [RCV002204386] Chr11:57600346 [GRCh38]
Chr11:57367819 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.306C>T (p.Pro102=) single nucleotide variant not provided [RCV002182376] Chr11:57600133 [GRCh38]
Chr11:57367606 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1192C>T (p.Leu398=) single nucleotide variant not provided [RCV002163153] Chr11:57611879 [GRCh38]
Chr11:57379352 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1257C>T (p.Phe419=) single nucleotide variant not provided [RCV002098186] Chr11:57614335 [GRCh38]
Chr11:57381808 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.685+15A>G single nucleotide variant not provided [RCV002140768] Chr11:57602184 [GRCh38]
Chr11:57369657 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.785dup (p.Asn263fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221648] Chr11:57606108..57606109 [GRCh38]
Chr11:57373581..57373582 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs) insertion Hereditary angioedema with C1Inh deficiency [RCV002221649] Chr11:57606459..57606460 [GRCh38]
Chr11:57373932..57373933 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.951dup (p.Ser318fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221650] Chr11:57606468..57606469 [GRCh38]
Chr11:57373941..57373942 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.52-16G>A single nucleotide variant not provided [RCV002202499] Chr11:57599863 [GRCh38]
Chr11:57367336 [GRCh37]
Chr11:11q12.1		 benign
NM_000062.3(SERPING1):c.686-20C>G single nucleotide variant not provided [RCV002143683] Chr11:57605990 [GRCh38]
Chr11:57373463 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.74del (p.Asn25fs) deletion Hereditary angioedema with C1Inh deficiency [RCV002221642] Chr11:57599899 [GRCh38]
Chr11:57367372 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.635dup (p.Phe213fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221643] Chr11:57602116..57602117 [GRCh38]
Chr11:57369589..57369590 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.673_675del (p.Phe225del) deletion Hereditary angioedema with C1Inh deficiency [RCV002221644] Chr11:57602155..57602157 [GRCh38]
Chr11:57369628..57369630 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu) single nucleotide variant Hereditary angioedema with C1Inh deficiency [RCV002221645] Chr11:57606032 [GRCh38]
Chr11:57373505 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221646] Chr11:57606056..57606057 [GRCh38]
Chr11:57373529..57373530 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.779dup (p.Leu261fs) duplication Hereditary angioedema with C1Inh deficiency [RCV002221647] Chr11:57606102..57606103 [GRCh38]
Chr11:57373575..57373576 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.670A>G (p.Ile224Val) single nucleotide variant not provided [RCV003117296] Chr11:57602154 [GRCh38]
Chr11:57369627 [GRCh37]
Chr11:11q12.1		 uncertain significance
NC_000011.9:g.(?_57365055)_(57374040_?)del deletion not provided [RCV003119232] Chr11:57365055..57374040 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.9:g.(?_57373463)_(57382054_?)del deletion not provided [RCV003119233] Chr11:57373463..57382054 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1352A>G (p.Glu451Gly) single nucleotide variant Hereditary angioedema type 1 [RCV004596003] Chr11:57614430 [GRCh38]
Chr11:57381903 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1250-1G>A single nucleotide variant Hereditary angioedema type 1 [RCV004597220] Chr11:57614327 [GRCh38]
Chr11:57381800 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1328A>G (p.His443Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004597231] Chr11:57614406 [GRCh38]
Chr11:57381879 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1396C>G (p.Arg466Gly) single nucleotide variant Hereditary angioedema type 1 [RCV004597240] Chr11:57614474 [GRCh38]
Chr11:57381947 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg) single nucleotide variant Hereditary angioedema type 1 [RCV003320016] Chr11:57611883 [GRCh38]
Chr11:57379356 [GRCh37]
Chr11:11q12.1		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_000062.3(SERPING1):c.1309C>T (p.Gln437Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004595656]|not provided [RCV002262358] Chr11:57614387 [GRCh38]
Chr11:57381860 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.430del (p.Asp144fs) deletion Hereditary angioedema type 1 [RCV004691676] Chr11:57600253 [GRCh38]
Chr11:57367726 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.543C>T (p.Val181=) single nucleotide variant Inborn genetic diseases [RCV002349588]|not provided [RCV003776110] Chr11:57600370 [GRCh38]
Chr11:57367843 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.712_715delinsT (p.Asn238_Ala239delinsSer) indel Inborn genetic diseases [RCV002367442] Chr11:57606036..57606039 [GRCh38]
Chr11:57373509..57373512 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.518G>A (p.Ser173Asn) single nucleotide variant not provided [RCV002297231] Chr11:57600345 [GRCh38]
Chr11:57367818 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.551-1G>A single nucleotide variant not provided [RCV003129476] Chr11:57602034 [GRCh38]
Chr11:57369507 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.550+1G>C single nucleotide variant Hereditary angioedema type 1 [RCV004584247] Chr11:57600378 [GRCh38]
Chr11:57367851 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.550+5G>A single nucleotide variant Hereditary angioedema type 1 [RCV004584269] Chr11:57600382 [GRCh38]
Chr11:57367855 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.51+1G>T single nucleotide variant Hereditary angioedema type 1 [RCV004584277] Chr11:57598322 [GRCh38]
Chr11:57365795 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1289T>C (p.Leu430Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004586446] Chr11:57614367 [GRCh38]
Chr11:57381840 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.846del (p.Ser283fs) deletion Hereditary angioedema type 1 [RCV004586447] Chr11:57606168 [GRCh38]
Chr11:57373641 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.808A>C (p.Thr270Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004586452] Chr11:57606132 [GRCh38]
Chr11:57373605 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.808_809delinsCAA (p.Thr270fs) indel Hereditary angioedema type 1 [RCV004586453] Chr11:57606132..57606133 [GRCh38]
Chr11:57373605..57373606 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.622C>T (p.Gln208Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004586454] Chr11:57602106 [GRCh38]
Chr11:57369579 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1223A>G (p.Asp408Gly) single nucleotide variant Inborn genetic diseases [RCV002361803]|not provided [RCV003103298] Chr11:57611910 [GRCh38]
Chr11:57379383 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1437C>T (p.Phe479=) single nucleotide variant Inborn genetic diseases [RCV002394288] Chr11:57614515 [GRCh38]
Chr11:57381988 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1162A>T (p.Met388Leu) single nucleotide variant Inborn genetic diseases [RCV002359505] Chr11:57611849 [GRCh38]
Chr11:57379322 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs) deletion Inborn genetic diseases [RCV002383476] Chr11:57614436..57614469 [GRCh38]
Chr11:57381909..57381942 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.51+3A>G single nucleotide variant Inborn genetic diseases [RCV002335998]|not provided [RCV003096615] Chr11:57598324 [GRCh38]
Chr11:57365797 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.770C>G (p.Ala257Gly) single nucleotide variant not provided [RCV002299489] Chr11:57606094 [GRCh38]
Chr11:57373567 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1493C>T (p.Pro498Leu) single nucleotide variant Inborn genetic diseases [RCV002389746] Chr11:57614571 [GRCh38]
Chr11:57382044 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1380C>T (p.Ser460=) single nucleotide variant Inborn genetic diseases [RCV002381157]|not provided [RCV003095063] Chr11:57614458 [GRCh38]
Chr11:57381931 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1187T>G (p.Leu396Arg) single nucleotide variant Inborn genetic diseases [RCV002340540] Chr11:57611874 [GRCh38]
Chr11:57379347 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.348G>A (p.Gln116=) single nucleotide variant Inborn genetic diseases [RCV002459006] Chr11:57600175 [GRCh38]
Chr11:57367648 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.165C>T (p.Phe55=) single nucleotide variant Inborn genetic diseases [RCV002403797]|SERPING1-related disorder [RCV003896174]|not provided [RCV003097074] Chr11:57599992 [GRCh38]
Chr11:57367465 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1167C>T (p.Ser389=) single nucleotide variant Inborn genetic diseases [RCV002333448] Chr11:57611854 [GRCh38]
Chr11:57379327 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.732_733dup (p.Ser245fs) duplication Inborn genetic diseases [RCV002380112] Chr11:57606054..57606055 [GRCh38]
Chr11:57373527..57373528 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1259A>G (p.Asp420Gly) single nucleotide variant not provided [RCV002301482] Chr11:57614337 [GRCh38]
Chr11:57381810 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.*10G>A single nucleotide variant Inborn genetic diseases [RCV002391838] Chr11:57614591 [GRCh38]
Chr11:57382064 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.13C>T (p.Leu5=) single nucleotide variant Inborn genetic diseases [RCV002389240] Chr11:57598283 [GRCh38]
Chr11:57365756 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.686-11_686-10insTTG insertion not provided [RCV002815384] Chr11:57605999..57606000 [GRCh38]
Chr11:57373472..57373473 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.51+13T>G single nucleotide variant not provided [RCV002819069] Chr11:57598334 [GRCh38]
Chr11:57365807 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1261T>A (p.Phe421Ile) single nucleotide variant not provided [RCV002903993] Chr11:57614339 [GRCh38]
Chr11:57381812 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1258G>A (p.Asp420Asn) single nucleotide variant not provided [RCV002754962] Chr11:57614336 [GRCh38]
Chr11:57381809 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.686-7C>G single nucleotide variant not provided [RCV002881584] Chr11:57606003 [GRCh38]
Chr11:57373476 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1333A>G (p.Thr445Ala) single nucleotide variant not provided [RCV002991785] Chr11:57614411 [GRCh38]
Chr11:57381884 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.348G>T (p.Gln116His) single nucleotide variant not provided [RCV003014272] Chr11:57600175 [GRCh38]
Chr11:57367648 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.377del (p.Pro126fs) deletion Hereditary angioedema with C1Inh deficiency [RCV002463183] Chr11:57600203 [GRCh38]
Chr11:57367676 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1336G>A (p.Val446Met) single nucleotide variant not provided [RCV003076667] Chr11:57614414 [GRCh38]
Chr11:57381887 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1081C>T (p.Gln361Ter) single nucleotide variant not provided [RCV003151649] Chr11:57611768 [GRCh38]
Chr11:57379241 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.100C>G (p.Pro34Ala) single nucleotide variant not provided [RCV002785362] Chr11:57599927 [GRCh38]
Chr11:57367400 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.890-20C>T single nucleotide variant not provided [RCV002781471] Chr11:57606388 [GRCh38]
Chr11:57373861 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1064del (p.Leu355fs) deletion not provided [RCV002848352] Chr11:57611749 [GRCh38]
Chr11:57379222 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.889+8T>C single nucleotide variant not provided [RCV002998717] Chr11:57606221 [GRCh38]
Chr11:57373694 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1474A>G (p.Met492Val) single nucleotide variant not provided [RCV003079121] Chr11:57614552 [GRCh38]
Chr11:57382025 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.603G>A (p.Lys201=) single nucleotide variant Inborn genetic diseases [RCV004966114]|not provided [RCV002795566] Chr11:57602087 [GRCh38]
Chr11:57369560 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.762C>T (p.Asn254=) single nucleotide variant not provided [RCV002781470] Chr11:57606086 [GRCh38]
Chr11:57373559 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.810CAA[2] (p.Asn272del) microsatellite Hereditary angioedema type 1 [RCV004698574]|not provided [RCV003037394] Chr11:57606134..57606136 [GRCh38]
Chr11:57373607..57373609 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.641C>T (p.Thr214Met) single nucleotide variant not provided [RCV002949129] Chr11:57602125 [GRCh38]
Chr11:57369598 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.482A>G (p.Lys161Arg) single nucleotide variant not provided [RCV002821008] Chr11:57600309 [GRCh38]
Chr11:57367782 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.987G>C (p.Lys329Asn) single nucleotide variant not provided [RCV003054264] Chr11:57606505 [GRCh38]
Chr11:57373978 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1250-12G>A single nucleotide variant not provided [RCV002976598] Chr11:57614316 [GRCh38]
Chr11:57381789 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1086C>A (p.Asn362Lys) single nucleotide variant not provided [RCV002820388] Chr11:57611773 [GRCh38]
Chr11:57379246 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.911A>T (p.Asp304Val) single nucleotide variant not provided [RCV002846413] Chr11:57606429 [GRCh38]
Chr11:57373902 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1375G>A (p.Ala459Thr) single nucleotide variant not provided [RCV003002673] Chr11:57614453 [GRCh38]
Chr11:57381926 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.723G>A (p.Arg241=) single nucleotide variant not provided [RCV002620050] Chr11:57606047 [GRCh38]
Chr11:57373520 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.566C>A (p.Thr189Asn) single nucleotide variant not provided [RCV003037391] Chr11:57602050 [GRCh38]
Chr11:57369523 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.773A>T (p.Asn258Ile) single nucleotide variant not provided [RCV003037393] Chr11:57606097 [GRCh38]
Chr11:57373570 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.171A>G (p.Glu57=) single nucleotide variant not provided [RCV002592196] Chr11:57599998 [GRCh38]
Chr11:57367471 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.550+20C>A single nucleotide variant not provided [RCV002640079] Chr11:57600397 [GRCh38]
Chr11:57367870 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.993T>C (p.Pro331=) single nucleotide variant not provided [RCV003039092] Chr11:57606511 [GRCh38]
Chr11:57373984 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.419C>G (p.Ala140Gly) single nucleotide variant not provided [RCV002735061] Chr11:57600246 [GRCh38]
Chr11:57367719 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.986del (p.Lys329fs) deletion not provided [RCV003059188] Chr11:57606503 [GRCh38]
Chr11:57373976 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1497G>C (p.Arg499Ser) single nucleotide variant not provided [RCV003059098] Chr11:57614575 [GRCh38]
Chr11:57382048 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1097G>A (p.Arg366His) single nucleotide variant not provided [RCV003056543] Chr11:57611784 [GRCh38]
Chr11:57379257 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.263_266dup (p.Gln89fs) microsatellite not provided [RCV002872020] Chr11:57600087..57600088 [GRCh38]
Chr11:57367560..57367561 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.686-18T>C single nucleotide variant not provided [RCV003022484] Chr11:57605992 [GRCh38]
Chr11:57373465 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.929T>C (p.Met310Thr) single nucleotide variant not provided [RCV002825775] Chr11:57606447 [GRCh38]
Chr11:57373920 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.124G>A (p.Glu42Lys) single nucleotide variant SERPING1-related disorder [RCV004756438]|not provided [RCV002933169] Chr11:57599951 [GRCh38]
Chr11:57367424 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.550+2T>C single nucleotide variant not provided [RCV003058312] Chr11:57600379 [GRCh38]
Chr11:57367852 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1404G>A (p.Leu468=) single nucleotide variant not provided [RCV002805508] Chr11:57614482 [GRCh38]
Chr11:57381955 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.642G>A (p.Thr214=) single nucleotide variant not provided [RCV002790495] Chr11:57602126 [GRCh38]
Chr11:57369599 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1257C>A (p.Phe419Leu) single nucleotide variant not provided [RCV003041912] Chr11:57614335 [GRCh38]
Chr11:57381808 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV003083889] Chr11:57606046 [GRCh38]
Chr11:57373519 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1250-4C>T single nucleotide variant not provided [RCV002720949] Chr11:57614324 [GRCh38]
Chr11:57381797 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.815A>C (p.Asn272Thr) single nucleotide variant not provided [RCV003047269] Chr11:57606139 [GRCh38]
Chr11:57373612 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1404G>C (p.Leu468=) single nucleotide variant not provided [RCV002632992] Chr11:57614482 [GRCh38]
Chr11:57381955 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser) single nucleotide variant not provided [RCV002581241] Chr11:57602124 [GRCh38]
Chr11:57369597 [GRCh37]
Chr11:11q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_000062.3(SERPING1):c.51+19G>A single nucleotide variant not provided [RCV002856577] Chr11:57598340 [GRCh38]
Chr11:57365813 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.550G>T (p.Gly184Trp) single nucleotide variant not provided [RCV003062379] Chr11:57600377 [GRCh38]
Chr11:57367850 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1342G>T (p.Glu448Ter) single nucleotide variant not provided [RCV003062382] Chr11:57614420 [GRCh38]
Chr11:57381893 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.392C>G (p.Ser131Cys) single nucleotide variant not provided [RCV002714906] Chr11:57600219 [GRCh38]
Chr11:57367692 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1029+14C>T single nucleotide variant not provided [RCV002671134] Chr11:57606561 [GRCh38]
Chr11:57374034 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.198G>A (p.Pro66=) single nucleotide variant not provided [RCV002961915] Chr11:57600025 [GRCh38]
Chr11:57367498 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.59C>G (p.Ala20Gly) single nucleotide variant not provided [RCV003044532] Chr11:57599886 [GRCh38]
Chr11:57367359 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.707T>G (p.Phe236Cys) single nucleotide variant not provided [RCV003009877] Chr11:57606031 [GRCh38]
Chr11:57373504 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.625G>A (p.Ala209Thr) single nucleotide variant not provided [RCV003048429] Chr11:57602109 [GRCh38]
Chr11:57369582 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.889+18C>T single nucleotide variant not provided [RCV002648150] Chr11:57606231 [GRCh38]
Chr11:57373704 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1030G>A (p.Val344Met) single nucleotide variant not provided [RCV002922045] Chr11:57611717 [GRCh38]
Chr11:57379190 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1034G>A (p.Gly345Glu) single nucleotide variant not provided [RCV003062380] Chr11:57611721 [GRCh38]
Chr11:57379194 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.655A>C (p.Thr219Pro) single nucleotide variant not provided [RCV002942752] Chr11:57602139 [GRCh38]
Chr11:57369612 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1211C>G (p.Thr404Arg) single nucleotide variant not provided [RCV003069914] Chr11:57611898 [GRCh38]
Chr11:57379371 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1474A>T (p.Met492Leu) single nucleotide variant not provided [RCV002722064] Chr11:57614552 [GRCh38]
Chr11:57382025 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.52-5CA[4] microsatellite not provided [RCV002634207] Chr11:57599873..57599874 [GRCh38]
Chr11:57367346..57367347 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.551-10T>G single nucleotide variant not provided [RCV002942785] Chr11:57602025 [GRCh38]
Chr11:57369498 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.6C>A (p.Ala2=) single nucleotide variant not provided [RCV002589601] Chr11:57598276 [GRCh38]
Chr11:57365749 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.153C>T (p.Ser51=) single nucleotide variant not provided [RCV003071850] Chr11:57599980 [GRCh38]
Chr11:57367453 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.551-15T>C single nucleotide variant not provided [RCV002680869] Chr11:57602020 [GRCh38]
Chr11:57369493 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1368G>A (p.Ala456=) single nucleotide variant not provided [RCV002606235] Chr11:57614446 [GRCh38]
Chr11:57381919 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.265_276del (p.Gln89_Thr92del) deletion not provided [RCV002611809] Chr11:57600081..57600092 [GRCh38]
Chr11:57367554..57367565 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1199G>A (p.Arg400His) single nucleotide variant Inborn genetic diseases [RCV003340641]|not provided [RCV002612486] Chr11:57611886 [GRCh38]
Chr11:57379359 [GRCh37]
Chr11:11q12.1		 likely benign|uncertain significance
NM_000062.3(SERPING1):c.1465C>G (p.Pro489Ala) single nucleotide variant not provided [RCV003136565] Chr11:57614543 [GRCh38]
Chr11:57382016 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1264dup (p.Ser422fs) duplication Hereditary angioedema type 1 [RCV004597221] Chr11:57614337..57614338 [GRCh38]
Chr11:57381810..57381811 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1280T>C (p.Leu427Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004597222] Chr11:57614358 [GRCh38]
Chr11:57381831 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1293del (p.Glu432fs) deletion Hereditary angioedema type 1 [RCV004597225] Chr11:57614371 [GRCh38]
Chr11:57381844 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser) single nucleotide variant Hereditary angioedema type 1 [RCV004597239] Chr11:57614490 [GRCh38]
Chr11:57381963 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.449C>T (p.Ser150Phe) single nucleotide variant Hereditary angioedema type 1 [RCV004691678] Chr11:57600276 [GRCh38]
Chr11:57367749 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1029+84G>A single nucleotide variant not provided [RCV003395797] Chr11:57606631 [GRCh38]
Chr11:57374104 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.884T>C (p.Leu295Pro) single nucleotide variant Hereditary angioedema type 1 [RCV005051321]|not provided [RCV003543140] Chr11:57606208 [GRCh38]
Chr11:57373681 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1380del (p.Ala461fs) deletion not provided [RCV003571221] Chr11:57614457 [GRCh38]
Chr11:57381930 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1468G>C (p.Val490Leu) single nucleotide variant not provided [RCV003569286] Chr11:57614546 [GRCh38]
Chr11:57382019 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.897G>A (p.Trp299Ter) single nucleotide variant not provided [RCV003442551] Chr11:57606415 [GRCh38]
Chr11:57373888 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.434C>G (p.Ala145Gly) single nucleotide variant not provided [RCV003881012] Chr11:57600261 [GRCh38]
Chr11:57367734 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.844C>T (p.Pro282Ser) single nucleotide variant not provided [RCV003738834] Chr11:57606168 [GRCh38]
Chr11:57373641 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.139A>G (p.Thr47Ala) single nucleotide variant not provided [RCV003716159] Chr11:57599966 [GRCh38]
Chr11:57367439 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1236C>T (p.Ile412=) single nucleotide variant not provided [RCV003740373] Chr11:57611923 [GRCh38]
Chr11:57379396 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.550+20C>T single nucleotide variant not provided [RCV003659747] Chr11:57600397 [GRCh38]
Chr11:57367870 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1487A>G (p.Tyr496Cys) single nucleotide variant not provided [RCV003882623] Chr11:57614565 [GRCh38]
Chr11:57382038 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.921A>T (p.Lys307Asn) single nucleotide variant not provided [RCV003578298] Chr11:57606439 [GRCh38]
Chr11:57373912 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.390C>G (p.Cys130Trp) single nucleotide variant not provided [RCV003544995] Chr11:57600217 [GRCh38]
Chr11:57367690 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1364_1375del (p.Glu455_Ala458del) deletion not provided [RCV003692598] Chr11:57614441..57614452 [GRCh38]
Chr11:57381914..57381925 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.837C>G (p.Asp279Glu) single nucleotide variant not provided [RCV003545737] Chr11:57606161 [GRCh38]
Chr11:57373634 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.326_327del (p.Leu109fs) deletion not provided [RCV003690267] Chr11:57600152..57600153 [GRCh38]
Chr11:57367625..57367626 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1250-10T>G single nucleotide variant not provided [RCV003573815] Chr11:57614318 [GRCh38]
Chr11:57381791 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1249+15C>T single nucleotide variant not provided [RCV003692847] Chr11:57611951 [GRCh38]
Chr11:57379424 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1187T>A (p.Leu396Gln) single nucleotide variant not provided [RCV003578111] Chr11:57611874 [GRCh38]
Chr11:57379347 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.51+4T>C single nucleotide variant not provided [RCV003545795] Chr11:57598325 [GRCh38]
Chr11:57365798 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1195C>A (p.Pro399Thr) single nucleotide variant not provided [RCV003694416] Chr11:57611882 [GRCh38]
Chr11:57379355 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1243A>T (p.Lys415Ter) single nucleotide variant not provided [RCV003544024] Chr11:57611930 [GRCh38]
Chr11:57379403 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1273del (p.Asn426fs) deletion not provided [RCV003546382] Chr11:57614350 [GRCh38]
Chr11:57381823 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.86C>G (p.Ser29Cys) single nucleotide variant not provided [RCV003689728] Chr11:57599913 [GRCh38]
Chr11:57367386 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1445G>A (p.Trp482Ter) single nucleotide variant not provided [RCV003578796] Chr11:57614523 [GRCh38]
Chr11:57381996 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.94C>G (p.Gln32Glu) single nucleotide variant not provided [RCV003545627] Chr11:57599921 [GRCh38]
Chr11:57367394 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.191G>C (p.Ser64Thr) single nucleotide variant not provided [RCV003715328] Chr11:57600018 [GRCh38]
Chr11:57367491 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.889+8T>G single nucleotide variant not provided [RCV003693062] Chr11:57606221 [GRCh38]
Chr11:57373694 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1029+4A>C single nucleotide variant not provided [RCV003544460] Chr11:57606551 [GRCh38]
Chr11:57374024 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.805_809dup (p.Asn271fs) duplication not provided [RCV003689809] Chr11:57606128..57606129 [GRCh38]
Chr11:57373601..57373602 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1035G>A (p.Gly345=) single nucleotide variant not provided [RCV003576385] Chr11:57611722 [GRCh38]
Chr11:57379195 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.207_218del (p.67TTNS[1]) deletion not provided [RCV003693051] Chr11:57600026..57600037 [GRCh38]
Chr11:57367499..57367510 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.713del (p.Asn238fs) deletion not provided [RCV003547493] Chr11:57606036 [GRCh38]
Chr11:57373509 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1272C>A (p.Asp424Glu) single nucleotide variant not provided [RCV003545953] Chr11:57614350 [GRCh38]
Chr11:57381823 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.52-1G>C single nucleotide variant not provided [RCV003714134] Chr11:57599878 [GRCh38]
Chr11:57367351 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1051C>T (p.His351Tyr) single nucleotide variant not provided [RCV003828242] Chr11:57611738 [GRCh38]
Chr11:57379211 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.657C>T (p.Thr219=) single nucleotide variant not provided [RCV003716635] Chr11:57602141 [GRCh38]
Chr11:57369614 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.935C>A (p.Pro312His) single nucleotide variant not provided [RCV003850196] Chr11:57606453 [GRCh38]
Chr11:57373926 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.396C>T (p.Asp132=) single nucleotide variant not provided [RCV003811266] Chr11:57600223 [GRCh38]
Chr11:57367696 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1133_1134insA (p.Lys380fs) insertion not provided [RCV003699872] Chr11:57611820..57611821 [GRCh38]
Chr11:57379293..57379294 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1350A>C (p.Thr450=) single nucleotide variant not provided [RCV003663744] Chr11:57614428 [GRCh38]
Chr11:57381901 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1503A>C (p.Ter501Cys) single nucleotide variant Hereditary angioedema type 1 [RCV004698587]|not provided [RCV003549979] Chr11:57614581 [GRCh38]
Chr11:57382054 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.520A>G (p.Ile174Val) single nucleotide variant not provided [RCV003559935] Chr11:57600347 [GRCh38]
Chr11:57367820 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1450C>G (p.Gln484Glu) single nucleotide variant not provided [RCV003548135] Chr11:57614528 [GRCh38]
Chr11:57382001 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.950A>C (p.Asn317Thr) single nucleotide variant not provided [RCV003560032] Chr11:57606468 [GRCh38]
Chr11:57373941 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.966G>A (p.Val322=) single nucleotide variant not provided [RCV003700533] Chr11:57606484 [GRCh38]
Chr11:57373957 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.322C>T (p.Gln108Ter) single nucleotide variant not provided [RCV003557595] Chr11:57600149 [GRCh38]
Chr11:57367622 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.809C>A (p.Thr270Asn) single nucleotide variant Hereditary angioedema type 1 [RCV004586448] Chr11:57606133 [GRCh38]
Chr11:57373606 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.550+2T>A single nucleotide variant Hereditary angioedema type 1 [RCV004584268] Chr11:57600379 [GRCh38]
Chr11:57367852 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1211C>T (p.Thr404Met) single nucleotide variant not provided [RCV003561968] Chr11:57611898 [GRCh38]
Chr11:57379371 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1134T>A (p.Val378=) single nucleotide variant not provided [RCV003699873] Chr11:57611821 [GRCh38]
Chr11:57379294 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.275_298del (p.Thr92_Thr99del) deletion not provided [RCV003559273] Chr11:57600092..57600115 [GRCh38]
Chr11:57367565..57367588 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.859C>T (p.Leu287Phe) single nucleotide variant not provided [RCV003698130] Chr11:57606183 [GRCh38]
Chr11:57373656 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.868C>T (p.Leu290Phe) single nucleotide variant not provided [RCV003717856] Chr11:57606192 [GRCh38]
Chr11:57373665 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.52-5C>T single nucleotide variant Angioedema [RCV004595713]|not provided [RCV003852475] Chr11:57599874 [GRCh38]
Chr11:57367347 [GRCh37]
Chr11:11q12.1		 pathogenic|likely benign|uncertain significance
NM_000062.3(SERPING1):c.51+3A>T single nucleotide variant not provided [RCV003837792] Chr11:57598324 [GRCh38]
Chr11:57365797 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.733AGC[2] (p.Ser247del) microsatellite not provided [RCV003668404] Chr11:57606056..57606058 [GRCh38]
Chr11:57373529..57373531 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1196C>A (p.Pro399His) single nucleotide variant not provided [RCV003665583] Chr11:57611883 [GRCh38]
Chr11:57379356 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1158G>A (p.Leu386=) single nucleotide variant not provided [RCV003667450] Chr11:57611845 [GRCh38]
Chr11:57379318 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.166G>A (p.Val56Ile) single nucleotide variant not provided [RCV003552960] Chr11:57599993 [GRCh38]
Chr11:57367466 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.997G>C (p.Ala333Pro) single nucleotide variant not provided [RCV003704365] Chr11:57606515 [GRCh38]
Chr11:57373988 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1157_1158del (p.Leu386fs) deletion Hereditary angioedema type 1 [RCV004579620]|not provided [RCV003567813] Chr11:57611844..57611845 [GRCh38]
Chr11:57379317..57379318 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.52-9G>C single nucleotide variant not provided [RCV003674527] Chr11:57599870 [GRCh38]
Chr11:57367343 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.401dup (p.Ser135fs) duplication not provided [RCV003563857] Chr11:57600227..57600228 [GRCh38]
Chr11:57367700..57367701 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.733A>G (p.Ser245Gly) single nucleotide variant not provided [RCV003676615] Chr11:57606057 [GRCh38]
Chr11:57373530 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1237A>G (p.Met413Val) single nucleotide variant not provided [RCV003567683] Chr11:57611924 [GRCh38]
Chr11:57379397 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.681C>T (p.Ser227=) single nucleotide variant not provided [RCV003710726] Chr11:57602165 [GRCh38]
Chr11:57369638 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.600C>G (p.Pro200=) single nucleotide variant not provided [RCV003556539] Chr11:57602084 [GRCh38]
Chr11:57369557 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.711G>A (p.Val237=) single nucleotide variant not provided [RCV003732107] Chr11:57606035 [GRCh38]
Chr11:57373508 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.720_721dup (p.Arg241fs) microsatellite not provided [RCV003680834] Chr11:57606040..57606041 [GRCh38]
Chr11:57373513..57373514 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.51+3A>C single nucleotide variant Hereditary angioedema type 1 [RCV004584239]|not provided [RCV003727119] Chr11:57598324 [GRCh38]
Chr11:57365797 [GRCh37]
Chr11:11q12.1		 pathogenic|uncertain significance
NM_000062.3(SERPING1):c.51+1G>C single nucleotide variant not provided [RCV003564198] Chr11:57598322 [GRCh38]
Chr11:57365795 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.890-11C>T single nucleotide variant not provided [RCV003867353] Chr11:57606397 [GRCh38]
Chr11:57373870 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.461A>C (p.Tyr154Ser) single nucleotide variant not provided [RCV003557596] Chr11:57600288 [GRCh38]
Chr11:57367761 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.462C>G (p.Tyr154Ter) single nucleotide variant not provided [RCV003557597] Chr11:57600289 [GRCh38]
Chr11:57367762 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.459C>G (p.Leu153=) single nucleotide variant not provided [RCV003861564] Chr11:57600286 [GRCh38]
Chr11:57367759 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.741C>T (p.Ser247=) single nucleotide variant not provided [RCV003869657] Chr11:57606065 [GRCh38]
Chr11:57373538 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1197C>A (p.Pro399=) single nucleotide variant not provided [RCV003871468] Chr11:57611884 [GRCh38]
Chr11:57379357 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1384A>G (p.Ile462Val) single nucleotide variant not provided [RCV003869855] Chr11:57614462 [GRCh38]
Chr11:57381935 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1185C>T (p.Leu395=) single nucleotide variant not provided [RCV003683433] Chr11:57611872 [GRCh38]
Chr11:57379345 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.239C>T (p.Ala80Val) single nucleotide variant not provided [RCV003732268] Chr11:57600066 [GRCh38]
Chr11:57367539 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1029+19C>T single nucleotide variant not provided [RCV003862830] Chr11:57606566 [GRCh38]
Chr11:57374039 [GRCh37]
Chr11:11q12.1		 likely benign
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
NM_000062.3(SERPING1):c.972_973insGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTGCCCATG (p.Met325delinsAlaAlaTer) microsatellite not provided [RCV003679995] Chr11:57606477..57606478 [GRCh38]
Chr11:57373950..57373951 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV003734626] Chr11:57598272 [GRCh38]
Chr11:57365745 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.761A>G (p.Asn254Ser) single nucleotide variant not provided [RCV003737069] Chr11:57606085 [GRCh38]
Chr11:57373558 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3 copy number gain not specified [RCV003986941] Chr11:57112299..57871866 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
NM_000062.3(SERPING1):c.210A>T (p.Ser70=) single nucleotide variant not provided [RCV003841756] Chr11:57600037 [GRCh38]
Chr11:57367510 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.934C>T (p.Pro312Ser) single nucleotide variant not provided [RCV003555592] Chr11:57606452 [GRCh38]
Chr11:57373925 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.581A>G (p.Glu194Gly) single nucleotide variant not provided [RCV003733168] Chr11:57602065 [GRCh38]
Chr11:57369538 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.382dup (p.Thr128fs) duplication Angioedema [RCV004595711]|not provided [RCV003685095] Chr11:57600208..57600209 [GRCh38]
Chr11:57367681..57367682 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1304A>G (p.Asp435Gly) single nucleotide variant not provided [RCV003719379] Chr11:57614382 [GRCh38]
Chr11:57381855 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.936C>T (p.Pro312=) single nucleotide variant not provided [RCV003858364] Chr11:57606454 [GRCh38]
Chr11:57373927 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.932A>G (p.Glu311Gly) single nucleotide variant not provided [RCV003563592] Chr11:57606450 [GRCh38]
Chr11:57373923 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.498C>A (p.Asn166Lys) single nucleotide variant not provided [RCV003557598] Chr11:57600325 [GRCh38]
Chr11:57367798 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.553G>C (p.Ala185Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004696551]|not provided [RCV003557599] Chr11:57602037 [GRCh38]
Chr11:57369510 [GRCh37]
Chr11:11q12.1		 pathogenic|uncertain significance
NM_000062.3(SERPING1):c.743C>G (p.Pro248Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004577964]|not provided [RCV003557600] Chr11:57606067 [GRCh38]
Chr11:57373540 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.1029+1G>T single nucleotide variant not provided [RCV003557601] Chr11:57606548 [GRCh38]
Chr11:57374021 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1033G>A (p.Gly345Arg) single nucleotide variant not provided [RCV003557602] Chr11:57611720 [GRCh38]
Chr11:57379193 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1070T>A (p.Ile357Asn) single nucleotide variant Hereditary angioedema type 1 [RCV004579618]|not provided [RCV003557603] Chr11:57611757 [GRCh38]
Chr11:57379230 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.1180A>C (p.Thr394Pro) single nucleotide variant not provided [RCV003557604] Chr11:57611867 [GRCh38]
Chr11:57379340 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1442T>G (p.Leu481Arg) single nucleotide variant not provided [RCV003557605] Chr11:57614520 [GRCh38]
Chr11:57381993 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.550+8C>T single nucleotide variant not provided [RCV003822854] Chr11:57600385 [GRCh38]
Chr11:57367858 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.698G>C (p.Arg233Thr) single nucleotide variant not provided [RCV003562603] Chr11:57606022 [GRCh38]
Chr11:57373495 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.420C>T (p.Ala140=) single nucleotide variant not provided [RCV003727311] Chr11:57600247 [GRCh38]
Chr11:57367720 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1312del (p.Val438fs) deletion not provided [RCV003683653] Chr11:57614389 [GRCh38]
Chr11:57381862 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV003822997] Chr11:57598301 [GRCh38]
Chr11:57365774 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.309C>G (p.Thr103=) single nucleotide variant not provided [RCV003566820] Chr11:57600136 [GRCh38]
Chr11:57367609 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1093C>T (p.His365Tyr) single nucleotide variant not provided [RCV003718699] Chr11:57611780 [GRCh38]
Chr11:57379253 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.218del (p.Asn73fs) deletion not provided [RCV003734627] Chr11:57600044 [GRCh38]
Chr11:57367517 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.838A>T (p.Ser280Cys) single nucleotide variant not provided [RCV003551435] Chr11:57606162 [GRCh38]
Chr11:57373635 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.910G>C (p.Asp304His) single nucleotide variant not provided [RCV003670683] Chr11:57606428 [GRCh38]
Chr11:57373901 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.121G>T (p.Gly41Cys) single nucleotide variant not provided [RCV003674528] Chr11:57599948 [GRCh38]
Chr11:57367421 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1381G>A (p.Ala461Thr) single nucleotide variant not provided [RCV003565096] Chr11:57614459 [GRCh38]
Chr11:57381932 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1197C>T (p.Pro399=) single nucleotide variant not provided [RCV003554763] Chr11:57611884 [GRCh38]
Chr11:57379357 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.850G>A (p.Asp284Asn) single nucleotide variant not provided [RCV003727343] Chr11:57606174 [GRCh38]
Chr11:57373647 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1249+13A>G single nucleotide variant not provided [RCV003857430] Chr11:57611949 [GRCh38]
Chr11:57379422 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.588C>T (p.Ile196=) single nucleotide variant not provided [RCV003727604] Chr11:57602072 [GRCh38]
Chr11:57369545 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1381G>T (p.Ala461Ser) single nucleotide variant Inborn genetic diseases [RCV004520374] Chr11:57614459 [GRCh38]
Chr11:57381932 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1337T>A (p.Val446Glu) single nucleotide variant SERPING1-related disorder [RCV003969746] Chr11:57614415 [GRCh38]
Chr11:57381888 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.2(SERPING1):c.-96A>C single nucleotide variant SERPING1-related disorder [RCV003907024] Chr11:57597649 [GRCh38]
Chr11:57365122 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.778G>T (p.Glu260Ter) single nucleotide variant SERPING1-related disorder [RCV003899660] Chr11:57606102 [GRCh38]
Chr11:57373575 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.2(SERPING1):c.-104C>T single nucleotide variant SERPING1-related disorder [RCV003963897] Chr11:57597641 [GRCh38]
Chr11:57365114 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.197C>T (p.Pro66Leu) single nucleotide variant Inborn genetic diseases [RCV004453396] Chr11:57600024 [GRCh38]
Chr11:57367497 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.577C>G (p.Leu193Val) single nucleotide variant Inborn genetic diseases [RCV004455381] Chr11:57602061 [GRCh38]
Chr11:57369534 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1000C>T (p.His334Tyr) single nucleotide variant Inborn genetic diseases [RCV004453395] Chr11:57606518 [GRCh38]
Chr11:57373991 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1029+1del deletion Hereditary angioedema type 1 [RCV004577704] Chr11:57606547 [GRCh38]
Chr11:57374020 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.468del (p.Phe157fs) deletion Hereditary angioedema type 1 [RCV004577705] Chr11:57600294 [GRCh38]
Chr11:57367767 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.599C>T (p.Pro200Leu) single nucleotide variant Hereditary angioedema type 1 [RCV004577706] Chr11:57602083 [GRCh38]
Chr11:57369556 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.312dup (p.Pro105fs) duplication Hereditary angioedema type 1 [RCV004577709] Chr11:57600137..57600138 [GRCh38]
Chr11:57367610..57367611 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.981_987del (p.Lys328fs) deletion Hereditary angioedema type 1 [RCV004584152] Chr11:57606497..57606503 [GRCh38]
Chr11:57373970..57373976 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.718T>C (p.Ser240Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004586449] Chr11:57606042 [GRCh38]
Chr11:57373515 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.458T>G (p.Leu153Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004586450]|not provided [RCV005101999] Chr11:57600285 [GRCh38]
Chr11:57367758 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.120_121del (p.Gly41fs) microsatellite Hereditary angioedema type 1 [RCV004584276] Chr11:57599945..57599946 [GRCh38]
Chr11:57367418..57367419 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1356dup (p.Gly453fs) duplication Hereditary angioedema type 1 [RCV004586445] Chr11:57614433..57614434 [GRCh38]
Chr11:57381906..57381907 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.523_526delinsTG (p.Ala175fs) indel Angioedema [RCV004584270] Chr11:57600350..57600353 [GRCh38]
Chr11:57367823..57367826 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.550+1G>A single nucleotide variant Angioedema [RCV004584248] Chr11:57600378 [GRCh38]
Chr11:57367851 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1493C>G (p.Pro498Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004586451] Chr11:57614571 [GRCh38]
Chr11:57382044 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1249+2T>G single nucleotide variant Hereditary angioedema type 1 [RCV004577708] Chr11:57611938 [GRCh38]
Chr11:57379411 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.860T>C (p.Leu287Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004698374] Chr11:57606184 [GRCh38]
Chr11:57373657 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.954del (p.Val319fs) deletion Hereditary angioedema type 1 [RCV004698403] Chr11:57606472 [GRCh38]
Chr11:57373945 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.686-2A>G single nucleotide variant Hereditary angioedema type 1 [RCV004577694] Chr11:57606008 [GRCh38]
Chr11:57373481 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.963del (p.Val322fs) deletion Hereditary angioedema type 1 [RCV004577707] Chr11:57606478 [GRCh38]
Chr11:57373951 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.860T>G (p.Leu287Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004698375] Chr11:57606184 [GRCh38]
Chr11:57373657 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.995T>G (p.Val332Gly) single nucleotide variant Hereditary angioedema type 1 [RCV004698381] Chr11:57606513 [GRCh38]
Chr11:57373986 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.925A>T (p.Arg309Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004698402] Chr11:57606443 [GRCh38]
Chr11:57373916 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.998C>A (p.Ala333Asp) single nucleotide variant Hereditary angioedema type 1 [RCV004698404] Chr11:57606516 [GRCh38]
Chr11:57373989 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.-161A>G single nucleotide variant Hereditary angioedema type 1 [RCV004577934] Chr11:57597584 [GRCh38]
Chr11:57365057 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.686-12A>G single nucleotide variant Hereditary angioedema type 1 [RCV004577971] Chr11:57605998 [GRCh38]
Chr11:57373471 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.-22-1G>A single nucleotide variant Hereditary angioedema type 1 [RCV004593549] Chr11:57598248 [GRCh38]
Chr11:57365721 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1289_1299del (p.Leu430fs) deletion Hereditary angioedema type 1 [RCV004597223] Chr11:57614366..57614376 [GRCh38]
Chr11:57381839..57381849 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1323_1344del (p.Met441fs) deletion Hereditary angioedema type 1 [RCV004597227] Chr11:57614401..57614422 [GRCh38]
Chr11:57381874..57381895 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1391_1392del (p.Val464fs) microsatellite Hereditary angioedema type 1 [RCV004597241] Chr11:57614467..57614468 [GRCh38]
Chr11:57381940..57381941 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1269del (p.Ser422_Tyr423insTer) deletion Hereditary angioedema type 1 [RCV004579639] Chr11:57614347 [GRCh38]
Chr11:57381820 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.308_311dup (p.Gln104fs) microsatellite Hereditary angioedema type 1 [RCV004698772] Chr11:57600129..57600130 [GRCh38]
Chr11:57367602..57367603 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.82dup (p.Ser28fs) duplication Hereditary angioedema type 1 [RCV004698774] Chr11:57599908..57599909 [GRCh38]
Chr11:57367381..57367382 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.539_543delinsT (p.Gln180fs) indel Hereditary angioedema type 1 [RCV004691684] Chr11:57600366..57600370 [GRCh38]
Chr11:57367839..57367843 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.656C>T (p.Thr219Ile) single nucleotide variant Angioedema [RCV004691685] Chr11:57602140 [GRCh38]
Chr11:57369613 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.744dup (p.Arg249fs) duplication Hereditary angioedema type 1 [RCV004696590] Chr11:57606064..57606065 [GRCh38]
Chr11:57373537..57373538 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.6_13del (p.Ser3fs) deletion Hereditary angioedema type 1 [RCV004696609] Chr11:57598273..57598280 [GRCh38]
Chr11:57365746..57365753 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.704_721del (p.Thr235_Ser240del) deletion Hereditary angioedema type 1 [RCV004696619] Chr11:57606028..57606045 [GRCh38]
Chr11:57373501..57373518 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.865CTC[1] (p.Leu290del) microsatellite Hereditary angioedema type 1 [RCV004698376] Chr11:57606187..57606189 [GRCh38]
Chr11:57373660..57373662 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1108_1115delinsGATGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACT (p.Met370_Gln372delinsAspAlaLeuSerProSerValPheLysAlaIleMetGluLysLeu) indel Hereditary angioedema type 1 [RCV004698769] Chr11:57611795..57611802 [GRCh38]
Chr11:57379268..57379275 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.732C>A (p.Tyr244Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004577970] Chr11:57606056 [GRCh38]
Chr11:57373529 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.950dup (p.Asn317fs) duplication Hereditary angioedema type 1 [RCV004578022] Chr11:57606463..57606464 [GRCh38]
Chr11:57373936..57373937 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1030-1G>C single nucleotide variant Hereditary angioedema type 1 [RCV004578023] Chr11:57611716 [GRCh38]
Chr11:57379189 [GRCh37]
Chr11:11q12.1		 pathogenic
NC_000011.9:g.(?_57364265)_(57367645_?)del deletion not provided [RCV004580296] Chr11:57364265..57367645 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.301C>T (p.Gln101Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004674059] Chr11:57600128 [GRCh38]
Chr11:57367601 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.208_212del (p.Ser70fs) deletion Hereditary angioedema type 1 [RCV004674061] Chr11:57600031..57600035 [GRCh38]
Chr11:57367504..57367508 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.707T>C (p.Phe236Ser) single nucleotide variant Hereditary angioedema type 1 [RCV004696585] Chr11:57606031 [GRCh38]
Chr11:57373504 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1040T>C (p.Leu347Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004577972] Chr11:57611727 [GRCh38]
Chr11:57379200 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1030delG deletion Hereditary angioedema type 1 [RCV004577973] Chr11:57611716 [GRCh38]
Chr11:57379189 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1337_1341del (p.Val446fs) deletion Hereditary angioedema type 1 [RCV004577987] Chr11:57614414..57614418 [GRCh38]
Chr11:57381887..57381891 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1393_1394del (p.Ala465fs) deletion Hereditary angioedema type 1 [RCV004577988] Chr11:57614471..57614472 [GRCh38]
Chr11:57381944..57381945 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.664_667del (p.Ser222fs) microsatellite Hereditary angioedema type 1 [RCV004578021] Chr11:57602146..57602149 [GRCh38]
Chr11:57369619..57369622 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.594_600del (p.Tyr199fs) deletion Hereditary angioedema type 1 [RCV004696610] Chr11:57602077..57602083 [GRCh38]
Chr11:57369550..57369556 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1109T>A (p.Met370Lys) single nucleotide variant Hereditary angioedema type 1 [RCV004579637] Chr11:57611796 [GRCh38]
Chr11:57379269 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.1127_1130dup (p.Val378fs) duplication Hereditary angioedema type 1 [RCV004579638] Chr11:57611812..57611813 [GRCh38]
Chr11:57379285..57379286 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1287del (p.Gly429_Leu430insTer) deletion Hereditary angioedema type 1 [RCV004579640] Chr11:57614363 [GRCh38]
Chr11:57381836 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.1423C>T (p.Gln475Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004579642] Chr11:57614501 [GRCh38]
Chr11:57381974 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.437del (p.Leu146fs) deletion Hereditary angioedema type 1 [RCV004691677] Chr11:57600262 [GRCh38]
Chr11:57367735 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.516del (p.Phe172fs) deletion Hereditary angioedema type 1 [RCV004691682] Chr11:57600343 [GRCh38]
Chr11:57367816 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.79_85del (p.Thr27fs) deletion Hereditary angioedema type 1 [RCV004691686] Chr11:57599903..57599909 [GRCh38]
Chr11:57367376..57367382 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.666_667del (p.Gln223fs) microsatellite Hereditary angioedema type 1 [RCV004691711] Chr11:57602146..57602147 [GRCh38]
Chr11:57369619..57369620 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.685+1del deletion Hereditary angioedema type 1 [RCV004691713] Chr11:57602169 [GRCh38]
Chr11:57369642 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.794G>A (p.Trp265Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004691690] Chr11:57606118 [GRCh38]
Chr11:57373591 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1492C>T (p.Pro498Ser) single nucleotide variant Hereditary angioedema type 1 [RCV004586444] Chr11:57614570 [GRCh38]
Chr11:57382043 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.620A>G (p.His207Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004698771] Chr11:57602104 [GRCh38]
Chr11:57369577 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.-22-3C>G single nucleotide variant Hereditary angioedema type 1 [RCV004593551] Chr11:57598246 [GRCh38]
Chr11:57365719 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1188_1189delinsC (p.Thr397fs) indel Hereditary angioedema type 1 [RCV004586442] Chr11:57611875..57611876 [GRCh38]
Chr11:57379348..57379349 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.874G>C (p.Ala292Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004698392] Chr11:57606198 [GRCh38]
Chr11:57373671 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.-23+30G>A single nucleotide variant Hereditary angioedema type 1 [RCV004593550] Chr11:57597752 [GRCh38]
Chr11:57365225 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1479del (p.Arg494fs) deletion Hereditary angioedema type 1 [RCV004674064] Chr11:57614554 [GRCh38]
Chr11:57382027 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.728T>C (p.Leu243Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004595810] Chr11:57606052 [GRCh38]
Chr11:57373525 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.706T>G (p.Phe236Val) single nucleotide variant Hereditary angioedema type 1 [RCV004595811] Chr11:57606030 [GRCh38]
Chr11:57373503 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.613T>C (p.Cys205Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004595812] Chr11:57602097 [GRCh38]
Chr11:57369570 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.35T>G (p.Leu12Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004595813] Chr11:57598305 [GRCh38]
Chr11:57365778 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.578T>C (p.Leu193Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004595828] Chr11:57602062 [GRCh38]
Chr11:57369535 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.674T>C (p.Phe225Ser) single nucleotide variant Hereditary angioedema type 1 [RCV004595829] Chr11:57602158 [GRCh38]
Chr11:57369631 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1430T>C (p.Phe477Ser) single nucleotide variant Hereditary angioedema type 1 [RCV004595834] Chr11:57614508 [GRCh38]
Chr11:57381981 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1195C>T (p.Pro399Ser) single nucleotide variant Angioedema [RCV004595835]|not provided [RCV005102055] Chr11:57611882 [GRCh38]
Chr11:57379355 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1153A>T (p.Lys385Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004595836] Chr11:57611840 [GRCh38]
Chr11:57379313 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1058T>C (p.Leu353Pro) single nucleotide variant Angioedema [RCV004595837] Chr11:57611745 [GRCh38]
Chr11:57379218 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.971T>G (p.Met324Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004698365] Chr11:57606489 [GRCh38]
Chr11:57373962 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.110dup (p.Leu37fs) duplication Hereditary angioedema type 1 [RCV004595850] Chr11:57599934..57599935 [GRCh38]
Chr11:57367407..57367408 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1193_1195dup (p.Leu398_Pro399insLeu) duplication Hereditary angioedema type 1 [RCV004595851] Chr11:57611877..57611878 [GRCh38]
Chr11:57379350..57379351 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.3(SERPING1):c.1113del (p.Glu371fs) deletion Hereditary angioedema type 1 [RCV004595865] Chr11:57611799 [GRCh38]
Chr11:57379272 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.377_378del (p.Pro126fs) deletion Hereditary angioedema type 1 [RCV004595822] Chr11:57600204..57600205 [GRCh38]
Chr11:57367677..57367678 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.44del (p.Leu15fs) deletion Hereditary angioedema type 1 [RCV004595823] Chr11:57598314 [GRCh38]
Chr11:57365787 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.382_391dup (p.Ser131fs) duplication Hereditary angioedema type 1 [RCV004595825] Chr11:57600207..57600208 [GRCh38]
Chr11:57367680..57367681 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.136_139delinsTTG (p.Ala46fs) indel Angioedema [RCV004595826] Chr11:57599963..57599966 [GRCh38]
Chr11:57367436..57367439 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.506T>C (p.Phe169Ser) single nucleotide variant Hereditary angioedema type 1 [RCV004595827] Chr11:57600333 [GRCh38]
Chr11:57367806 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.751del (p.Val250_Leu251insTer) deletion Hereditary angioedema type 1 [RCV004595839] Chr11:57606074 [GRCh38]
Chr11:57373547 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1229T>C (p.Leu410Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004595840] Chr11:57611916 [GRCh38]
Chr11:57379389 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1466C>G (p.Pro489Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004595841] Chr11:57614544 [GRCh38]
Chr11:57382017 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.115del (p.Asp39fs) deletion Hereditary angioedema type 1 [RCV004595866] Chr11:57599942 [GRCh38]
Chr11:57367415 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.52-2A>G single nucleotide variant Hereditary angioedema type 1 [RCV004595824] Chr11:57599877 [GRCh38]
Chr11:57367350 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.723dup (p.Thr242fs) duplication Hereditary angioedema type 1 [RCV004696589] Chr11:57606045..57606046 [GRCh38]
Chr11:57373518..57373519 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.779_780del (p.Glu260fs) deletion Hereditary angioedema type 1 [RCV004696591] Chr11:57606102..57606103 [GRCh38]
Chr11:57373575..57373576 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1439T>A (p.Val480Glu) single nucleotide variant Hereditary angioedema type 1 [RCV004597238] Chr11:57614517 [GRCh38]
Chr11:57381990 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.310C>T (p.Gln104Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004674058] Chr11:57600137 [GRCh38]
Chr11:57367610 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1246_1247insGCTCTCAAATCA (p.Leu416delinsCysSerGlnIleMet) insertion Hereditary angioedema type 1 [RCV004674062] Chr11:57611933..57611934 [GRCh38]
Chr11:57379406..57379407 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1481delinsCTGACCCCATGA (p.Arg494fs) indel Hereditary angioedema type 1 [RCV004674063] Chr11:57614559 [GRCh38]
Chr11:57382032 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1478G>A (p.Gly493Glu) single nucleotide variant Hereditary angioedema type 1 [RCV004674065] Chr11:57614556 [GRCh38]
Chr11:57382029 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1249+1G>A single nucleotide variant Hereditary angioedema type 1 [RCV004597219] Chr11:57611937 [GRCh38]
Chr11:57379410 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1375G>C (p.Ala459Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004597234] Chr11:57614453 [GRCh38]
Chr11:57381926 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1030-1G>T single nucleotide variant Hereditary angioedema type 1 [RCV004577974] Chr11:57611716 [GRCh38]
Chr11:57379189 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.452T>C (p.Leu151Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004691680] Chr11:57600279 [GRCh38]
Chr11:57367752 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.519C>A (p.Ser173Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004691683] Chr11:57600346 [GRCh38]
Chr11:57367819 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.787_794dup (p.Trp265Ter) duplication Hereditary angioedema type 1 [RCV004691687] Chr11:57606110..57606111 [GRCh38]
Chr11:57373583..57373584 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.793_794insTGGCCACCT (p.Thr264_Trp265insLeuAlaThr) insertion Hereditary angioedema type 1 [RCV004691688] Chr11:57606112..57606113 [GRCh38]
Chr11:57373585..57373586 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.793T>C (p.Trp265Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004691707] Chr11:57606117 [GRCh38]
Chr11:57373590 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.685+4dup duplication Hereditary angioedema type 1 [RCV004691714] Chr11:57602172..57602173 [GRCh38]
Chr11:57369645..57369646 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.937T>C (p.Phe313Leu) single nucleotide variant Hereditary angioedema type 1 [RCV004698378] Chr11:57606455 [GRCh38]
Chr11:57373928 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1001A>C (p.His334Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004577975] Chr11:57606519 [GRCh38]
Chr11:57373992 [GRCh37]
Chr11:11q12.1		 likely pathogenic|uncertain significance
NM_000062.3(SERPING1):c.64dup (p.Ser22fs) duplication Hereditary angioedema type 1 [RCV004696618] Chr11:57599890..57599891 [GRCh38]
Chr11:57367363..57367364 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.896G>A (p.Trp299Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004698377] Chr11:57606414 [GRCh38]
Chr11:57373887 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.889+81G>C single nucleotide variant Hereditary angioedema type 1 [RCV004698393] Chr11:57606294 [GRCh38]
Chr11:57373767 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.722G>C (p.Arg241Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004696607] Chr11:57606046 [GRCh38]
Chr11:57373519 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.554C>A (p.Ala185Asp) single nucleotide variant Hereditary angioedema type 1 [RCV004696608] Chr11:57602038 [GRCh38]
Chr11:57369511 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.820A>G (p.Ile274Val) single nucleotide variant Hereditary angioedema type 1 [RCV004696620] Chr11:57606144 [GRCh38]
Chr11:57373617 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1048T>C (p.Ser350Pro) single nucleotide variant Hereditary angioedema type 1 [RCV004596655] Chr11:57611735 [GRCh38]
Chr11:57379208 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.950del (p.Asn317fs) deletion Hereditary angioedema type 1 [RCV004698379] Chr11:57606464 [GRCh38]
Chr11:57373937 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.976_979delinsTACCCTGT (p.Asn326fs) indel Hereditary angioedema type 1 [RCV004698380] Chr11:57606494..57606497 [GRCh38]
Chr11:57373967..57373970 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.971T>A (p.Met324Lys) single nucleotide variant Hereditary angioedema type 1 [RCV004698382] Chr11:57606489 [GRCh38]
Chr11:57373962 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1479dup (p.Arg494fs) duplication Hereditary angioedema type 1 [RCV004698770] Chr11:57614553..57614554 [GRCh38]
Chr11:57382026..57382027 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.285del (p.Thr96fs) deletion Hereditary angioedema type 1 [RCV004674060] Chr11:57600111 [GRCh38]
Chr11:57367584 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.27C>T (p.Thr9=) single nucleotide variant Inborn genetic diseases [RCV004666020] Chr11:57598297 [GRCh38]
Chr11:57365770 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.2(SERPING1):c.-168G>A single nucleotide variant SERPING1-related disorder [RCV004757018] Chr11:57597577 [GRCh38]
Chr11:57365050 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.373G>T (p.Gly125Ter) single nucleotide variant Hereditary angioedema type 1 [RCV004764729] Chr11:57600200 [GRCh38]
Chr11:57367673 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1202T>C (p.Ile401Thr) single nucleotide variant Hereditary angioedema type 1 [RCV004732515] Chr11:57611889 [GRCh38]
Chr11:57379362 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.1477G>C (p.Gly493Arg) single nucleotide variant Hereditary angioedema type 1 [RCV004732516] Chr11:57614555 [GRCh38]
Chr11:57382028 [GRCh37]
Chr11:11q12.1		 pathogenic|likely pathogenic
NM_000062.2(SERPING1):c.-99delC deletion SERPING1-related disorder [RCV004756874] Chr11:57597639 [GRCh38]
Chr11:57365112 [GRCh37]
Chr11:11q12.1		 likely benign
GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3 copy number gain Pontocerebellar hypoplasia type 10 [RCV004767746] Chr11:57003258..57596656 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.771_774delinsTCATCAACTGTTGATGAG (p.Asn258fs) indel Hereditary angioedema type 1 [RCV004720207] Chr11:57606095..57606098 [GRCh38]
Chr11:57373568..57373571 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.308C>T (p.Thr103Ile) single nucleotide variant Inborn genetic diseases [RCV004955035] Chr11:57600135 [GRCh38]
Chr11:57367608 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.438G>T (p.Leu146Phe) single nucleotide variant Inborn genetic diseases [RCV004955036]|not provided [RCV005107865] Chr11:57600265 [GRCh38]
Chr11:57367738 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.740G>C (p.Ser247Thr) single nucleotide variant Inborn genetic diseases [RCV004970996] Chr11:57606064 [GRCh38]
Chr11:57373537 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.286A>C (p.Thr96Pro) single nucleotide variant Inborn genetic diseases [RCV004970995] Chr11:57600113 [GRCh38]
Chr11:57367586 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.686-8_686-7insGGCAA insertion not provided [RCV005107255] Chr11:57606001..57606002 [GRCh38]
Chr11:57373474..57373475 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1460A>G (p.Lys487Arg) single nucleotide variant not provided [RCV005146654] Chr11:57614538 [GRCh38]
Chr11:57382011 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1272C>T (p.Asp424=) single nucleotide variant not provided [RCV005196527] Chr11:57614350 [GRCh38]
Chr11:57381823 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1495A>C (p.Arg499=) single nucleotide variant not provided [RCV005060493] Chr11:57614573 [GRCh38]
Chr11:57382046 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.700del (p.Asp234fs) deletion not provided [RCV005195769] Chr11:57606022 [GRCh38]
Chr11:57373495 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.112C>G (p.Gln38Glu) single nucleotide variant not provided [RCV005152708] Chr11:57599939 [GRCh38]
Chr11:57367412 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.984G>C (p.Lys328Asn) single nucleotide variant not provided [RCV005158163] Chr11:57606502 [GRCh38]
Chr11:57373975 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.52-3C>T single nucleotide variant not provided [RCV005116449] Chr11:57599876 [GRCh38]
Chr11:57367349 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.228C>T (p.Thr76=) single nucleotide variant not provided [RCV005078036] Chr11:57600055 [GRCh38]
Chr11:57367528 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.414A>G (p.Thr138=) single nucleotide variant not provided [RCV005149313] Chr11:57600241 [GRCh38]
Chr11:57367714 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.997G>T (p.Ala333Ser) single nucleotide variant not provided [RCV005159956] Chr11:57606515 [GRCh38]
Chr11:57373988 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.670A>T (p.Ile224Phe) single nucleotide variant not provided [RCV005123213] Chr11:57602154 [GRCh38]
Chr11:57369627 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.983_994del (p.Lys328_Val332delinsMet) deletion not provided [RCV005134619] Chr11:57606501..57606512 [GRCh38]
Chr11:57373974..57373985 [GRCh37]
Chr11:11q12.1		 likely pathogenic
NM_000062.3(SERPING1):c.294_314dup (p.Thr106_Thr107insIleGlnProThrGlnProThr) duplication not provided [RCV005160362] Chr11:57600110..57600111 [GRCh38]
Chr11:57367583..57367584 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.779A>G (p.Glu260Gly) single nucleotide variant not provided [RCV005131068] Chr11:57606103 [GRCh38]
Chr11:57373576 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.889+1G>A single nucleotide variant not provided [RCV005143450] Chr11:57606214 [GRCh38]
Chr11:57373687 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.685+5G>A single nucleotide variant not provided [RCV005108614] Chr11:57602174 [GRCh38]
Chr11:57369647 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.359G>T (p.Gly120Val) single nucleotide variant not provided [RCV005168619] Chr11:57600186 [GRCh38]
Chr11:57367659 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1042C>T (p.Gln348Ter) single nucleotide variant not provided [RCV005200900] Chr11:57611729 [GRCh38]
Chr11:57379202 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.101del (p.Pro34fs) deletion not provided [RCV005121577] Chr11:57599927 [GRCh38]
Chr11:57367400 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1199G>C (p.Arg400Pro) single nucleotide variant not provided [RCV005130595] Chr11:57611886 [GRCh38]
Chr11:57379359 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.665C>T (p.Ser222Phe) single nucleotide variant not provided [RCV005132254] Chr11:57602149 [GRCh38]
Chr11:57369622 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.889+11C>A single nucleotide variant not provided [RCV005137362] Chr11:57606224 [GRCh38]
Chr11:57373697 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1279C>G (p.Leu427Val) single nucleotide variant not provided [RCV005132705] Chr11:57614357 [GRCh38]
Chr11:57381830 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1201A>T (p.Ile401Phe) single nucleotide variant not provided [RCV005131706] Chr11:57611888 [GRCh38]
Chr11:57379361 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1241A>G (p.Glu414Gly) single nucleotide variant not provided [RCV005076117] Chr11:57611928 [GRCh38]
Chr11:57379401 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.141A>G (p.Thr47=) single nucleotide variant not provided [RCV005136768] Chr11:57599968 [GRCh38]
Chr11:57367441 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.1143C>T (p.Ala381=) single nucleotide variant not provided [RCV005138767] Chr11:57611830 [GRCh38]
Chr11:57379303 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.620A>T (p.His207Leu) single nucleotide variant not provided [RCV005141680] Chr11:57602104 [GRCh38]
Chr11:57369577 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.716C>A (p.Ala239Asp) single nucleotide variant not provided [RCV005083295] Chr11:57606040 [GRCh38]
Chr11:57373513 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1464C>T (p.Phe488=) single nucleotide variant not provided [RCV005083320] Chr11:57614542 [GRCh38]
Chr11:57382015 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.716C>T (p.Ala239Val) single nucleotide variant not provided [RCV005128009] Chr11:57606040 [GRCh38]
Chr11:57373513 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.685+2T>A single nucleotide variant not provided [RCV005200897] Chr11:57602171 [GRCh38]
Chr11:57369644 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.803A>G (p.Lys268Arg) single nucleotide variant not provided [RCV005077038] Chr11:57606127 [GRCh38]
Chr11:57373600 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.523G>A (p.Ala175Thr) single nucleotide variant not provided [RCV005141928] Chr11:57600350 [GRCh38]
Chr11:57367823 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1250-2A>C single nucleotide variant not provided [RCV005135030] Chr11:57614326 [GRCh38]
Chr11:57381799 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.818_820del (p.Lys273del) deletion not provided [RCV005194515] Chr11:57606141..57606143 [GRCh38]
Chr11:57373614..57373616 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.62C>T (p.Ser21Phe) single nucleotide variant not provided [RCV005176758] Chr11:57599889 [GRCh38]
Chr11:57367362 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1038G>A (p.Gln346=) single nucleotide variant not provided [RCV005152478] Chr11:57611725 [GRCh38]
Chr11:57379198 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.508T>C (p.Ser170Pro) single nucleotide variant not provided [RCV005200894] Chr11:57600335 [GRCh38]
Chr11:57367808 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.551-3C>G single nucleotide variant not provided [RCV005200896] Chr11:57602032 [GRCh38]
Chr11:57369505 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1030-1G>A single nucleotide variant not provided [RCV005200899] Chr11:57611716 [GRCh38]
Chr11:57379189 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.1469T>A (p.Val490Asp) single nucleotide variant not provided [RCV005200901] Chr11:57614547 [GRCh38]
Chr11:57382020 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1198del (p.Arg400fs) deletion not provided [RCV005126125] Chr11:57611882 [GRCh38]
Chr11:57379355 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.202_206del (p.Thr68fs) deletion not provided [RCV005205914] Chr11:57600028..57600032 [GRCh38]
Chr11:57367501..57367505 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.889+3A>G single nucleotide variant not provided [RCV005205625] Chr11:57606216 [GRCh38]
Chr11:57373689 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1353G>A (p.Glu451=) single nucleotide variant not provided [RCV005127826] Chr11:57614431 [GRCh38]
Chr11:57381904 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.899dup (p.Thr301fs) duplication not provided [RCV005115111] Chr11:57606415..57606416 [GRCh38]
Chr11:57373888..57373889 [GRCh37]
Chr11:11q12.1		 pathogenic
NM_000062.3(SERPING1):c.856C>T (p.Arg286Cys) single nucleotide variant not provided [RCV005149052] Chr11:57606180 [GRCh38]
Chr11:57373653 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_000062.3(SERPING1):c.1104A>G (p.Glu368=) single nucleotide variant not provided [RCV005198378] Chr11:57611791 [GRCh38]
Chr11:57379264 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.438G>A (p.Leu146=) single nucleotide variant not provided [RCV005205185] Chr11:57600265 [GRCh38]
Chr11:57367738 [GRCh37]
Chr11:11q12.1		 likely benign
NM_000062.3(SERPING1):c.389G>T (p.Cys130Phe) single nucleotide variant not provided [RCV005124786] Chr11:57600216 [GRCh38]
Chr11:57367689 [GRCh37]
Chr11:11q12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4054
Count of miRNA genes:812
Interacting mature miRNAs:917
Transcripts:ENST00000278407, ENST00000340687, ENST00000378323, ENST00000378324, ENST00000403558, ENST00000405496, ENST00000457869, ENST00000528996, ENST00000530113, ENST00000531133, ENST00000531605, ENST00000531797
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597407961GWAS1504035_Halkaline phosphatase measurement QTL GWAS1504035 (human)1e-08alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)115760225757602258Human
597583898GWAS1640758_Hmean corpuscular hemoglobin concentration QTL GWAS1640758 (human)2e-20mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)115760505357605054Human
597396125GWAS1492199_Hplatelet count QTL GWAS1492199 (human)6e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)115760326957603270Human
597526197GWAS1622271_Hcomplement C1q subcomponent measurement QTL GWAS1622271 (human)4e-12complement protein amount (VT:0010033)115760248457602485Human
597475637GWAS1571711_Hcomplement C1r subcomponent measurement QTL GWAS1571711 (human)6e-52complement protein amount (VT:0010033)115760225757602258Human
407012235GWAS661211_Hplatelet count QTL GWAS661211 (human)2e-24platelet quantity (VT:0003179)platelet count (CMO:0000029)115760865857608659Human
597272912GWAS1368986_Hplasma protease C1 inhibitor measurement QTL GWAS1368986 (human)1e-132plasma protease C1 inhibitor measurement115761379057613791Human
597430134GWAS1526208_Hprotein measurement QTL GWAS1526208 (human)2e-351protein measurement115761379057613791Human
597476023GWAS1572097_Hblood protein measurement QTL GWAS1572097 (human)3e-16blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)115760225757602258Human
597516306GWAS1612380_Hcomplement C1r subcomponent-like protein measurement QTL GWAS1612380 (human)8e-15complement C1r subcomponent-like protein measurement115760371957603720Human
597612017GWAS1668877_Hplatelet count QTL GWAS1668877 (human)4e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)115761049557610496Human
597084487GWAS1180561_Hplatelet count QTL GWAS1180561 (human)4e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)115760865857608659Human
597617356GWAS1674216_Hplatelet count QTL GWAS1674216 (human)2e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)115760747357607474Human
597267055GWAS1363129_Hplasma protease C1 inhibitor measurement QTL GWAS1363129 (human)1e-96plasma protease C1 inhibitor measurement115760443857604439Human
597293761GWAS1389835_Hplasma protease C1 inhibitor measurement QTL GWAS1389835 (human)5e-96plasma protease C1 inhibitor measurement115760685957606860Human
597380806GWAS1476880_HFEV/FVC ratio QTL GWAS1476880 (human)2e-11FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)115760371957603720Human
597584864GWAS1641724_Hmean corpuscular hemoglobin concentration QTL GWAS1641724 (human)1e-16mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)115760278957602790Human
597112424GWAS1208498_Hplatelet count QTL GWAS1208498 (human)3e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)115760505357605054Human

Markers in Region
RH11451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,382,155 - 57,382,260UniSTSGRCh37
Build 361157,138,731 - 57,138,836RGDNCBI36
Celera1154,738,672 - 54,738,777RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,730,946 - 53,731,051UniSTS
GeneMap99-GB4 RH Map11214.67UniSTS
STS-X54486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,380,578 - 57,380,706UniSTSGRCh37
Build 361157,137,154 - 57,137,282RGDNCBI36
Celera1154,737,095 - 54,737,223RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,729,369 - 53,729,497UniSTS
GeneMap99-GB4 RH Map11214.67UniSTS
G62069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,381,895 - 57,382,052UniSTSGRCh37
Build 361157,138,471 - 57,138,628RGDNCBI36
Celera1154,738,412 - 54,738,569RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,730,686 - 53,730,843UniSTS
GDB:197595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,367,475 - 57,367,892UniSTSGRCh37
Build 361157,124,051 - 57,124,468RGDNCBI36
Celera1154,723,993 - 54,724,410RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,716,269 - 53,716,686UniSTS
SHGC-6014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,367,853 - 57,368,051UniSTSGRCh37
Build 361157,124,429 - 57,124,627RGDNCBI36
Celera1154,724,371 - 54,724,569RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,716,647 - 53,716,845UniSTS
TNG Radiation Hybrid Map1125241.0UniSTS
D11S3986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,382,170 - 57,382,291UniSTSGRCh37
Build 361157,138,746 - 57,138,867RGDNCBI36
Celera1154,738,687 - 54,738,808RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,730,961 - 53,731,082UniSTS
TNG Radiation Hybrid Map1125224.0UniSTS
Stanford-G3 RH Map112423.0UniSTS
GeneMap99-GB4 RH Map11202.85UniSTS
Whitehead-RH Map11277.5UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11429.3UniSTS
NCBI RH Map11436.5UniSTS
GeneMap99-G3 RH Map112423.0UniSTS
C1NH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,381,830 - 57,382,259UniSTSGRCh37
Build 361157,138,406 - 57,138,835RGDNCBI36
Celera1154,738,347 - 54,738,776RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,730,621 - 53,731,050UniSTS
GeneMap99-GB4 RH Map11206.88UniSTS
SERPING1_2664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,381,769 - 57,382,420UniSTSGRCh37
Build 361157,138,345 - 57,138,996RGDNCBI36
Celera1154,738,286 - 54,738,937RGD
HuRef1153,730,560 - 53,731,211UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2371 2788 2230 4945 1719 2298 6 623 1615 464 2248 6928 6150 49 3727 1 840 1729 1567 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF435921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL703442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY291075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY732485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY732486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY904027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ183346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC420309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000278407   ⟹   ENSP00000278407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,685 - 57,614,848 (+)Ensembl
Ensembl Acc Id: ENST00000340687   ⟹   ENSP00000341861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,683 - 57,614,846 (+)Ensembl
Ensembl Acc Id: ENST00000378323   ⟹   ENSP00000367574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,688 - 57,614,739 (+)Ensembl
Ensembl Acc Id: ENST00000378324   ⟹   ENSP00000367575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,690 - 57,614,847 (+)Ensembl
Ensembl Acc Id: ENST00000403558   ⟹   ENSP00000384420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,803 - 57,614,814 (+)Ensembl
Ensembl Acc Id: ENST00000405496   ⟹   ENSP00000384561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,387 - 57,600,308 (+)Ensembl
Ensembl Acc Id: ENST00000457869   ⟹   ENSP00000399746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,681 - 57,600,092 (+)Ensembl
Ensembl Acc Id: ENST00000528996   ⟹   ENSP00000431226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,229 - 57,614,857 (+)Ensembl
Ensembl Acc Id: ENST00000530113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,611,231 - 57,614,529 (+)Ensembl
Ensembl Acc Id: ENST00000531133   ⟹   ENSP00000435431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,271 - 57,614,581 (+)Ensembl
Ensembl Acc Id: ENST00000531605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,223 - 57,614,845 (+)Ensembl
Ensembl Acc Id: ENST00000531797   ⟹   ENSP00000432554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,233 - 57,614,790 (+)Ensembl
Ensembl Acc Id: ENST00000619430   ⟹   ENSP00000478572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,563 - 57,614,848 (+)Ensembl
Ensembl Acc Id: ENST00000676670   ⟹   ENSP00000504807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,184 - 57,619,159 (+)Ensembl
Ensembl Acc Id: ENST00000676741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,746 - 57,614,845 (+)Ensembl
Ensembl Acc Id: ENST00000677275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,685 - 57,603,856 (+)Ensembl
Ensembl Acc Id: ENST00000677624   ⟹   ENSP00000503979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,686 - 57,614,845 (+)Ensembl
Ensembl Acc Id: ENST00000677625   ⟹   ENSP00000502857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,184 - 57,614,831 (+)Ensembl
Ensembl Acc Id: ENST00000677856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,686 - 57,614,844 (+)Ensembl
Ensembl Acc Id: ENST00000677915   ⟹   ENSP00000503118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,597,686 - 57,614,831 (+)Ensembl
Ensembl Acc Id: ENST00000678533   ⟹   ENSP00000503873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,194 - 57,619,171 (+)Ensembl
Ensembl Acc Id: ENST00000678592   ⟹   ENSP00000504424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,598,184 - 57,614,833 (+)Ensembl
RefSeq Acc Id: NM_000062   ⟹   NP_000053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,597,685 - 57,614,848 (+)NCBI
GRCh371157,365,027 - 57,382,326 (+)ENTREZGENE
Build 361157,121,603 - 57,138,902 (+)NCBI Archive
HuRef1153,713,821 - 53,731,117 (+)ENTREZGENE
CHM1_11157,231,240 - 57,248,536 (+)NCBI
T2T-CHM13v2.01157,547,859 - 57,565,023 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001032295   ⟹   NP_001027466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,598,211 - 57,614,848 (+)NCBI
GRCh371157,365,027 - 57,382,326 (+)ENTREZGENE
Build 361157,122,281 - 57,138,902 (+)NCBI Archive
HuRef1153,713,821 - 53,731,117 (+)ENTREZGENE
CHM1_11157,231,918 - 57,248,536 (+)NCBI
T2T-CHM13v2.01157,548,385 - 57,565,023 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000053 (Get FASTA)   NCBI Sequence Viewer  
  NP_001027466 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35613 (Get FASTA)   NCBI Sequence Viewer  
  AAA51848 (Get FASTA)   NCBI Sequence Viewer  
  AAA51849 (Get FASTA)   NCBI Sequence Viewer  
  AAA53096 (Get FASTA)   NCBI Sequence Viewer  
  AAB33044 (Get FASTA)   NCBI Sequence Viewer  
  AAB59387 (Get FASTA)   NCBI Sequence Viewer  
  AAH11171 (Get FASTA)   NCBI Sequence Viewer  
  AAM21515 (Get FASTA)   NCBI Sequence Viewer  
  AAP35612 (Get FASTA)   NCBI Sequence Viewer  
  AAQ19269 (Get FASTA)   NCBI Sequence Viewer  
  AAV33124 (Get FASTA)   NCBI Sequence Viewer  
  AAV33125 (Get FASTA)   NCBI Sequence Viewer  
  AAW69393 (Get FASTA)   NCBI Sequence Viewer  
  ADO22392 (Get FASTA)   NCBI Sequence Viewer  
  ADU87625 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33406 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33407 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33408 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33409 (Get FASTA)   NCBI Sequence Viewer  
  BAD93063 (Get FASTA)   NCBI Sequence Viewer  
  BAF85743 (Get FASTA)   NCBI Sequence Viewer  
  BAG35512 (Get FASTA)   NCBI Sequence Viewer  
  BAG64762 (Get FASTA)   NCBI Sequence Viewer  
  BAG64784 (Get FASTA)   NCBI Sequence Viewer  
  BBG06126 (Get FASTA)   NCBI Sequence Viewer  
  CAA30314 (Get FASTA)   NCBI Sequence Viewer  
  CAA30469 (Get FASTA)   NCBI Sequence Viewer  
  CAA38358 (Get FASTA)   NCBI Sequence Viewer  
  EAW73762 (Get FASTA)   NCBI Sequence Viewer  
  EAW73763 (Get FASTA)   NCBI Sequence Viewer  
  EAW73764 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278407
  ENSP00000278407.4
  ENSP00000367574.4
  ENSP00000367575.2
  ENSP00000504807
  ENSP00000504807.1
GenBank Protein P05155 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000053   ⟸   NM_000062
- Peptide Label: precursor
- UniProtKB: Q9UC49 (UniProtKB/Swiss-Prot),   Q96FE0 (UniProtKB/Swiss-Prot),   Q7Z455 (UniProtKB/Swiss-Prot),   Q59EI5 (UniProtKB/Swiss-Prot),   Q547W3 (UniProtKB/Swiss-Prot),   Q16304 (UniProtKB/Swiss-Prot),   B4E1H2 (UniProtKB/Swiss-Prot),   B4E1F0 (UniProtKB/Swiss-Prot),   B2R6L5 (UniProtKB/Swiss-Prot),   A8KAI9 (UniProtKB/Swiss-Prot),   A6NMU0 (UniProtKB/Swiss-Prot),   Q9UCF9 (UniProtKB/Swiss-Prot),   P05155 (UniProtKB/Swiss-Prot),   E9KL26 (UniProtKB/TrEMBL),   A0A384MDV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001027466   ⟸   NM_001032295
- Peptide Label: precursor
- UniProtKB: Q9UC49 (UniProtKB/Swiss-Prot),   Q96FE0 (UniProtKB/Swiss-Prot),   Q7Z455 (UniProtKB/Swiss-Prot),   Q59EI5 (UniProtKB/Swiss-Prot),   Q547W3 (UniProtKB/Swiss-Prot),   Q16304 (UniProtKB/Swiss-Prot),   B4E1H2 (UniProtKB/Swiss-Prot),   B4E1F0 (UniProtKB/Swiss-Prot),   B2R6L5 (UniProtKB/Swiss-Prot),   A8KAI9 (UniProtKB/Swiss-Prot),   A6NMU0 (UniProtKB/Swiss-Prot),   Q9UCF9 (UniProtKB/Swiss-Prot),   P05155 (UniProtKB/Swiss-Prot),   E9KL26 (UniProtKB/TrEMBL),   A0A384MDV8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000432554   ⟸   ENST00000531797
Ensembl Acc Id: ENSP00000435431   ⟸   ENST00000531133
Ensembl Acc Id: ENSP00000384420   ⟸   ENST00000403558
Ensembl Acc Id: ENSP00000367575   ⟸   ENST00000378324
Ensembl Acc Id: ENSP00000367574   ⟸   ENST00000378323
Ensembl Acc Id: ENSP00000399746   ⟸   ENST00000457869
Ensembl Acc Id: ENSP00000384561   ⟸   ENST00000405496
Ensembl Acc Id: ENSP00000341861   ⟸   ENST00000340687
Ensembl Acc Id: ENSP00000478572   ⟸   ENST00000619430
Ensembl Acc Id: ENSP00000278407   ⟸   ENST00000278407
Ensembl Acc Id: ENSP00000431226   ⟸   ENST00000528996
Ensembl Acc Id: ENSP00000504807   ⟸   ENST00000676670
Ensembl Acc Id: ENSP00000503118   ⟸   ENST00000677915
Ensembl Acc Id: ENSP00000503979   ⟸   ENST00000677624
Ensembl Acc Id: ENSP00000502857   ⟸   ENST00000677625
Ensembl Acc Id: ENSP00000504424   ⟸   ENST00000678592
Ensembl Acc Id: ENSP00000503873   ⟸   ENST00000678533
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05155-F1-model_v2 AlphaFold P05155 1-500 view protein structure

Promoters
RGD ID:7220351
Promoter ID:EPDNEW_H15921
Type:initiation region
Name:SERPING1_1
Description:serpin family G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15922  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,597,685 - 57,597,745EPDNEW
RGD ID:7220355
Promoter ID:EPDNEW_H15922
Type:initiation region
Name:SERPING1_2
Description:serpin family G member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15921  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,598,229 - 57,598,289EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1228 AgrOrtholog
COSMIC SERPING1 COSMIC
Ensembl Genes ENSG00000149131 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000278407 ENTREZGENE
  ENST00000278407.9 UniProtKB/Swiss-Prot
  ENST00000378323.8 UniProtKB/Swiss-Prot
  ENST00000378324.6 UniProtKB/Swiss-Prot
  ENST00000676670 ENTREZGENE
  ENST00000676670.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot
  3.30.497.10 UniProtKB/Swiss-Prot
GTEx ENSG00000149131 GTEx
HGNC ID HGNC:1228 ENTREZGENE
Human Proteome Map SERPING1 Human Proteome Map
InterPro Serpin_CS UniProtKB/Swiss-Prot
  Serpin_dom UniProtKB/Swiss-Prot
  Serpin_fam UniProtKB/Swiss-Prot
  Serpin_sf UniProtKB/Swiss-Prot
  Serpin_sf_1 UniProtKB/Swiss-Prot
  Serpin_sf_2 UniProtKB/Swiss-Prot
KEGG Report hsa:710 UniProtKB/Swiss-Prot
NCBI Gene 710 ENTREZGENE
OMIM 606860 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot
  PTHR11461:SF159 UniProtKB/Swiss-Prot
Pfam Serpin UniProtKB/Swiss-Prot
PharmGKB PA35029 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot
SMART SERPIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot
UniProt A0A087WUD9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z333_HUMAN UniProtKB/TrEMBL
  A0A348GSH7_HUMAN UniProtKB/TrEMBL
  A0A384MDV8 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2D2_HUMAN UniProtKB/TrEMBL
  A0A7I2V2X2_HUMAN UniProtKB/TrEMBL
  A0A7I2V4I9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5R3_HUMAN UniProtKB/TrEMBL
  A6NMU0 ENTREZGENE
  A8KAI9 ENTREZGENE
  B2R6L5 ENTREZGENE
  B4E1F0 ENTREZGENE
  B4E1H2 ENTREZGENE
  B5MCB9_HUMAN UniProtKB/TrEMBL
  C9JZJ9_HUMAN UniProtKB/TrEMBL
  E9KL26 ENTREZGENE, UniProtKB/TrEMBL
  E9PGN7_HUMAN UniProtKB/TrEMBL
  E9PK97_HUMAN UniProtKB/TrEMBL
  H0YCA1_HUMAN UniProtKB/TrEMBL
  H9KV48_HUMAN UniProtKB/TrEMBL
  IC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16304 ENTREZGENE
  Q547W3 ENTREZGENE
  Q59EI5 ENTREZGENE
  Q5UGI5_HUMAN UniProtKB/TrEMBL
  Q5UGI6_HUMAN UniProtKB/TrEMBL
  Q7Z455 ENTREZGENE
  Q96FE0 ENTREZGENE
  Q9UC49 ENTREZGENE
  Q9UCF9 ENTREZGENE
UniProt Secondary A6NMU0 UniProtKB/Swiss-Prot
  A8KAI9 UniProtKB/Swiss-Prot
  B2R6L5 UniProtKB/Swiss-Prot
  B4E1F0 UniProtKB/Swiss-Prot
  B4E1H2 UniProtKB/Swiss-Prot
  Q16304 UniProtKB/Swiss-Prot
  Q547W3 UniProtKB/Swiss-Prot
  Q59EI5 UniProtKB/Swiss-Prot
  Q7Z455 UniProtKB/Swiss-Prot
  Q96FE0 UniProtKB/Swiss-Prot
  Q9UC49 UniProtKB/Swiss-Prot
  Q9UCF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPING1  serpin family G member 1  SERPING1  serpin peptidase inhibitor, clade G (C1 inhibitor), member 1  Symbol and/or name change 5135510 APPROVED