APOA1 (apolipoprotein A1) - Rat Genome Database

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Gene: APOA1 (apolipoprotein A1) Homo sapiens
Analyze
Symbol: APOA1
Name: apolipoprotein A1
RGD ID: 735962
HGNC Page HGNC:600
Description: Enables several functions, including amyloid-beta binding activity; cholesterol binding activity; and signaling receptor binding activity. Contributes to cholesterol transfer activity. Involved in several processes, including lipid transport; positive regulation of transport; and regulation of Rho protein signal transduction. Acts upstream of or within cholesterol transport. Located in endocytic vesicle and extracellular space. Part of spherical high-density lipoprotein particle and very-low-density lipoprotein particle. Implicated in several diseases, including artery disease (multiple); familial visceral amyloidosis; hypolipoproteinemia (multiple); non-alcoholic steatohepatitis; and systemic lupus erythematosus. Biomarker of several diseases, including artery disease (multiple); carcinoma (multiple); diabetes mellitus (multiple); liver disease (multiple); and neurodegenerative disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apo(a); apo-AI; apoA-I; apolipoprotein A-I; HPALP2; MGC117399
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,835,751 - 116,837,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11116,835,751 - 116,837,622 (-)EnsemblGRCh38hg38GRCh38
GRCh3711116,706,467 - 116,708,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,211,679 - 116,213,548 (-)NCBINCBI36Build 36hg18NCBI36
Celera11113,864,272 - 113,866,141 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,638,728 - 112,640,597 (-)NCBIHuRef
CHM1_111116,591,221 - 116,593,090 (-)NCBICHM1_1
T2T-CHM13v2.011116,850,858 - 116,853,057 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (EXP)
Acute Tubulointerstitial Nephritis  (IDA)
adenocarcinoma  (EXP)
Alzheimer's disease  (IEP,IMP)
arteriosclerosis  (IEA,ISO)
atherosclerosis  (EXP,IDA,IEP)
Behcet's disease  (EXP)
Budd-Chiari syndrome  (IEP)
cardiomyopathy  (IAGP)
cardiovascular system disease  (IEA)
CD3epsilon deficiency  (IAGP)
cerebral amyloid angiopathy  (ISO)
Chemical and Drug Induced Liver Injury  (EXP)
cholangiocarcinoma  (IEP)
Chromosome 11, Partial Trisomy 11q  (IAGP)
Chronic Hepatitis B  (IEP)
chronic kidney disease  (IAGP)
congestive heart failure  (IEP)
coronary artery disease  (EXP,IEA,IEP)
Death  (EXP)
Diabetic Cardiomyopathies  (EXP)
Diabetic Nephropathies  (IEP)
Drug Eruptions  (EXP)
Dwarfism  (IAGP)
Edema  (EXP)
end stage renal disease  (IEP,ISO)
Endotoxemia  (IDA,ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Familial Amyloid Polyneuropathies  (IAGP)
Familial Amyloidosis  (IEP)
familial isolated deficiency of vitamin E  (EXP)
familial visceral amyloidosis  (IAGP)
fatty liver disease  (ISO)
genetic disease  (IAGP)
Glycogen Storage Disease IB  (IAGP)
hepatitis C  (IEP)
hepatoblastoma  (IEP)
hepatocellular carcinoma  (EXP,IEP)
hereditary spastic paraplegia 50  (IAGP)
human immunodeficiency virus infectious disease  (EXP)
Hypercholesterolemia  (IAGP)
Hyperlipoproteinemia Type II  (IAGP)
hypertension  (EXP,ISO)
hyperthyroidism  (ISO)
Hypertriglyceridemia  (IAGP)
Hypoalphalipoproteinemias  (IAGP)
hypolipoproteinemia  (IAGP)
Hypoproteinemia  (ISO)
Hypoxia  (EXP)
idiopathic pulmonary fibrosis  (IEP)
immunodeficiency 17  (IAGP)
immunodeficiency 18  (IAGP)
immunodeficiency 19  (IAGP)
Inflammation  (EXP)
inflammatory bowel disease 28  (IAGP)
intellectual disability  (IAGP)
isolated microphthalmia 5  (IAGP)
Kidney Reperfusion Injury  (IDA)
lipid metabolism disorder  (EXP)
liver cirrhosis  (IEP)
lung adenocarcinoma  (EXP)
Lung Neoplasms  (EXP)
lung small cell carcinoma  (IEP)
major depressive disorder  (ISO)
malignant mesothelioma  (EXP)
membranous glomerulonephritis  (EXP)
Metabolic Syndrome  (IAGP,IEP)
multiple sclerosis  (IEP)
myocardial infarction  (IAGP,IDA,IEA)
nephronophthisis 15  (IAGP)
nephrotic syndrome  (ISO)
non-alcoholic fatty liver disease  (ISO)
non-alcoholic steatohepatitis  (IMP,ISO)
obesity  (IEP,ISO)
ocular hypertension  (ISO)
pancreatic cancer  (IEP)
Parkinson's disease  (IEP)
Pediatric Obesity  (EXP)
polycystic kidney disease  (ISO)
primary hypoalphalipoproteinemia 1  (IAGP)
primary hypoalphalipoproteinemia 2  (IAGP)
pulmonary fibrosis  (ISO)
RASopathy  (IAGP)
sciatic neuropathy  (ISO)
Sepsis  (ISO)
Stomach Neoplasms  (EXP)
Stroke  (EXP)
systemic lupus erythematosus  (IDA,ISO)
Tangier disease  (IAGP)
transitional cell carcinoma  (IEP,ISO)
Transplant Rejection  (IEP)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (EXP)
(-)-ephedrine  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R,R,R)-alpha-tocopherol  (EXP,ISO)
1-naphthyl isothiocyanate  (ISO)
1-Oleoyl-2-acetyl-sn-glycerol  (EXP)
17alpha-ethynylestradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,6-di-tert-butyl-4-methylphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-bromohexadecanoic acid  (ISO)
26-hydroxycholesterol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arachidonic acid  (EXP)
aristolochic acid A  (EXP)
arotinoid acid  (EXP)
atazanavir sulfate  (EXP)
atenolol  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bezafibrate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caesium atom  (ISO)
caffeine  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
CHIR 99021  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP,ISO)
choline  (ISO)
chromium atom  (EXP)
chromium trinitrate  (ISO)
chromium(6+)  (ISO)
ciprofibrate  (EXP)
cisplatin  (ISO)
clofibrate  (EXP,ISO)
Clofop  (ISO)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
cyproterone acetate  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (ISO)
dichlorine  (EXP)
diethyl phthalate  (EXP)
dimethyl sulfoxide  (EXP,ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
ezetimibe  (EXP)
fenofibrate  (EXP,ISO)
fingolimod hydrochloride  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
gemfibrozil  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
ginsenoside Rf  (ISO)
glucose  (ISO)
glutathione  (ISO)
glyburide  (EXP)
glycerol  (EXP)
glycidol  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycolaldehyde  (ISO)
glyoxal  (ISO)
GW 4064  (EXP,ISO)
GW 501516  (EXP,ISO)
GW 7647  (EXP)
high-density lipoprotein cholesterol  (EXP,ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP)
hypochlorous acid  (EXP)
L-ascorbic acid  (EXP,ISO)
L-ascorbic acid 2-phosphate  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
linalool  (EXP)
linoleic acid  (EXP)
lipopolysaccharide  (EXP,ISO)
lovastatin  (EXP)
mastoparan  (EXP)
menadione  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
Nandrolone decanoate  (EXP)
nefazodone  (EXP)
nevirapine  (EXP)
nickel atom  (EXP)
nicotinic acid  (EXP,ISO)
nifedipine  (EXP)
nitrofen  (ISO)
nitroglycerin  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
olanzapine  (EXP)
oleic acid  (EXP)
p-menthan-3-ol  (ISO)
palmitoleic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parathion  (EXP)
PCB138  (EXP)
pentetic acid  (EXP)
perfluorobutyric acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
pirinixic acid  (EXP,ISO)
Polyoxyethylene dioleate  (EXP)
potassium chromate  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
probucol  (ISO)
propanal  (EXP)
prostaglandin E2  (ISO)
prostaglandin J2  (EXP)
Ptaquiloside  (ISO)
pyrazinecarboxamide  (ISO)
pyrogallol  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
resveratrol  (EXP)
rosuvastatin calcium  (EXP)
rotenone  (ISO)
salicylates  (EXP)
sarin  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
stigmasterol  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tartrazine  (EXP)
taurocholic acid  (EXP)
tauroursodeoxycholic acid  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
tolcapone  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
U-73122  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
warfarin  (EXP)
XAV939  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEA,ISO)
animal organ regeneration  (ISO)
axon regeneration  (ISO)
blood vessel endothelial cell migration  (IEA,ISO)
cholesterol biosynthetic process  (IBA,IEA,ISO)
cholesterol efflux  (IBA,IDA,IEA,IMP,ISO)
cholesterol homeostasis  (IBA,IDA,IMP)
cholesterol import  (IMP)
cholesterol metabolic process  (IEA,IMP,ISO)
cholesterol transport  (IDA,IEA,ISO)
endothelial cell proliferation  (IEA,ISO)
ERK1 and ERK2 cascade  (IDA)
G protein-coupled receptor signaling pathway  (IDA)
glucocorticoid metabolic process  (IEA,ISO)
high-density lipoprotein particle assembly  (IBA,IDA)
high-density lipoprotein particle clearance  (IC)
high-density lipoprotein particle remodeling  (IC,IDA)
integrin-mediated signaling pathway  (IDA)
intermembrane lipid transfer  (IEA)
lipid metabolic process  (IEA)
lipid storage  (IEA,ISO)
lipid transport  (IEA)
lipoprotein biosynthetic process  (IEA,ISO)
lipoprotein metabolic process  (IBA,IEA)
negative chemotaxis  (IDA)
negative regulation of cell adhesion molecule production  (IDA)
negative regulation of cytokine production involved in immune response  (IDA)
negative regulation of heterotypic cell-cell adhesion  (IDA)
negative regulation of hydrolase activity  (IEA,ISO)
negative regulation of inflammatory response  (IDA)
negative regulation of inflammatory response  (IDA)
negative regulation of interleukin-1 beta production  (IDA)
negative regulation of lipase activity  (ISO)
negative regulation of response to cytokine stimulus  (IDA)
negative regulation of tumor necrosis factor-mediated signaling pathway  (IDA)
negative regulation of very-low-density lipoprotein particle remodeling  (IDA)
obsolete positive regulation of cholesterol esterification  (IBA,IDA)
peptidyl-methionine modification  (IDA)
peripheral nervous system axon regeneration  (ISO)
phosphatidylcholine biosynthetic process  (IDA)
phosphatidylcholine metabolic process  (IBA)
phospholipid efflux  (IBA,IDA)
phospholipid homeostasis  (IDA)
phospholipid metabolic process  (IEA,ISO)
phospholipid transport  (ISO)
positive regulation of cholesterol efflux  (IDA)
positive regulation of cholesterol metabolic process  (IDA)
positive regulation of CoA-transferase activity  (IDA)
positive regulation of fatty acid biosynthetic process  (IBA)
positive regulation of hydrolase activity  (IDA)
positive regulation of lipid biosynthetic process  (IBA)
positive regulation of lipoprotein lipase activity  (IBA)
positive regulation of phagocytosis  (IDA)
positive regulation of phospholipid efflux  (IDA)
positive regulation of Rho protein signal transduction  (IDA)
positive regulation of stress fiber assembly  (IDA)
positive regulation of substrate adhesion-dependent cell spreading  (IDA)
positive regulation of triglyceride catabolic process  (IBA)
protein localization  (ISO)
protein oxidation  (IDA)
protein stabilization  (IDA)
regulation of Cdc42 protein signal transduction  (IDA)
regulation of intestinal cholesterol absorption  (IBA,IEA,ISO)
regulation of protein phosphorylation  (IEA,ISO)
response to estrogen  (ISO)
response to nutrient  (ISO)
response to xenobiotic stimulus  (ISO)
reverse cholesterol transport  (IBA,IMP)
steroid metabolic process  (IEA)
transforming growth factor beta receptor signaling pathway  (IDA)
triglyceride homeostasis  (IBA,IDA)
very-low-density lipoprotein particle remodeling  (IBA)
vitamin transport  (IMP)
vitamin transport  (IMP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The compositional abnormalities of lipoproteins in diabetic renal failure. Attman PO, etal., Nephrol Dial Transplant. 1998 Nov;13(11):2833-41.
2. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
3. A role for apolipoprotein E, apolipoprotein A-I, and low density lipoprotein receptors in cholesterol transport during regeneration and remyelination of the rat sciatic nerve. Boyles JK, etal., J Clin Invest. 1989 Mar;83(3):1015-31.
4. Diversity of metabolic syndrome risk factors in obese children and adolescents. Bueno G, etal., J Physiol Biochem. 2006 Jun;62(2):125-33.
5. Early-life stress and antidepressants modulate peripheral biomarkers in a gene-environment rat model of depression. Carboni L, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2010 Aug 16;34(6):1037-48. Epub 2010 May 23.
6. Influence of genetic variation at the apo A-I gene locus on lipid levels and response to diet in familial hypercholesterolemia. Carmena-Ramon RF, etal., Atherosclerosis. 1998 Jul;139(1):107-13.
7. Oxidized ApoC1 on MALDI-TOF and glycated-ApoA1 band on gradient gel as potential diagnostic tools for atherosclerotic vascular disease. Chang CT, etal., Clin Chim Acta. 2012 Oct 15. pii: S0009-8981(12)00484-6. doi: 10.1016/j.cca.2012.10.017.
8. Identification of differently expressed genes in chemical carcinogen-induced rat bladder cancers. Chen G, etal., J Huazhong Univ Sci Technolog Med Sci. 2009 Apr;29(2):220-6. Epub 2009 Apr 28.
9. Quantification of apolipoprotein AI-containing lipoprotein particles in non-insulin-dependent diabetes mellitus. Contiero E, etal., Diabetes Res Clin Pract. 1998 Mar;39(3):201-9.
10. SINGLE NUCLEOTIDE POLYMORPHISMS THAT INFLUENCE LIPID METABOLISM: Interaction with Dietary Factors. Corella D and Ordovas JM, Annu Rev Nutr. 2005;25:341-90.
11. HDL Mimetic Peptide Administration Improves Left Ventricular Filling and Cardiac output in Lipopolysaccharide-Treated Rats. Datta G, etal., J Clin Exp Cardiolog. 2011 Dec 22;2(172). pii: 1000172.
12. Metabolic syndrome in South Asian immigrants: more than low HDL requiring aggressive management. Dodani S, etal., Lipids Health Dis. 2011 Mar 16;10:45.
13. Mango phenolics increase the serum apolipoprotein A1/B ratio in rats fed high cholesterol and sodium cholate diets. Domínguez-Avila JA, etal., J Sci Food Agric. 2019 Mar 15;99(4):1604-1612. doi: 10.1002/jsfa.9340. Epub 2018 Oct 11.
14. Identification of potential markers for the detection of pancreatic cancer through comparative serum protein expression profiling. Ehmann M, etal., Pancreas. 2007 Mar;34(2):205-14.
15. Protein profiling in hepatocellular carcinoma by label-free quantitative proteomics in two west African populations. Fye HK, etal., PLoS One. 2013 Jul 30;8(7):e68381. doi: 10.1371/journal.pone.0068381. Print 2013.
16. Hypolipidemic effect of Fragarianilgerrensis Schlecht. medicine compound on hyperlipidemic rats. Gao L, etal., Lipids Health Dis. 2018 Sep 19;17(1):222. doi: 10.1186/s12944-018-0868-4.
17. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
18. High blood pressure effects on the blood to cerebrospinal fluid barrier and cerebrospinal fluid protein composition: a two-dimensional electrophoresis study in spontaneously hypertensive rats. Gonzalez-Marrero I, etal., Int J Hypertens. 2013;2013:164653. doi: 10.1155/2013/164653. Epub 2013 Jan 21.
19. Trimerization of apolipoprotein A-I retards plasma clearance and preserves antiatherosclerotic properties. Graversen JH, etal., J Cardiovasc Pharmacol. 2008 Feb;51(2):170-7. doi: 10.1097/FJC.0b013e31815ed0b9.
20. [Screening and identification of apolipoprotein A-I as a potential marker for hepatoblastoma in children]. Guo LH, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2016 Dec;18(12):1205-1210.
21. [Serum apolipoprotein AI, B levels in patients with coronary diseases] He Y Zhonghua Xin Xue Guan Bing Za Zhi. 1990 Aug;18(4):217-9, 254.
22. Association of low serum levels of apolipoprotein A-I with adverse outcomes in patients with nonischemic heart failure. Iwaoka M, etal., J Card Fail. 2007 May;13(4):247-53.
23. Investigation into the effect of hepatitis B virus on apoliprotein A1 expression and its mechanism. Jiang W, etal., Lipids Health Dis. 2014 Aug 13;13:130. doi: 10.1186/1476-511X-13-130.
24. Deficiency in apolipoprotein A-I ablates the pharmacological effects of metformin on plasma glucose homeostasis and hepatic lipid deposition. Karavia EA, etal., Eur J Pharmacol. 2015 Nov 5;766:76-85. doi: 10.1016/j.ejphar.2015.09.040. Epub 2015 Sep 28.
25. Lack of association between genetic variations of apo A-I-C-III-A-IV gene cluster and myocardial infarction in a sample of European male: ECTIM study. Kee F, etal., Atherosclerosis. 1999 Jul;145(1):187-95.
26. Role of lung apolipoprotein A-I in idiopathic pulmonary fibrosis: antiinflammatory and antifibrotic effect on experimental lung injury and fibrosis. Kim TH, etal., Am J Respir Crit Care Med. 2010 Sep 1;182(5):633-42. Epub 2010 May 12.
27. Nonenzymatically glycated lipoprotein ApoA-I in plasma of diabetic and nephropathic patients. Lapolla A, etal., Ann N Y Acad Sci. 2008 Apr;1126:295-9. Epub 2007 Dec 13.
28. Repeated intravenous infusion of human apolipoprotein(a) kringle V is associated with reversible dose-dependent acute tubulointerstitial nephritis without affecting glomerular filtration function. Lee HJ, etal., Toxicol Lett. 2012 Aug 3;212(3):298-306. doi: 10.1016/j.toxlet.2012.05.019. Epub 2012 May 30.
29. Apolipoprotein A-I deficiency increases cerebral amyloid angiopathy and cognitive deficits in APP/PS1DeltaE9 mice. Lefterov I, etal., J Biol Chem. 2010 Nov 19;285(47):36945-57. Epub 2010 Aug 25.
30. Overexpression of human apolipoprotein A-I preserves cognitive function and attenuates neuroinflammation and cerebral amyloid angiopathy in a mouse model of Alzheimer disease. Lewis TL, etal., J Biol Chem. 2010 Nov 19;285(47):36958-68. Epub 2010 Sep 16.
31. Identification of Apo-A1 as a biomarker for early diagnosis of bladder transitional cell carcinoma. Li H, etal., Proteome Sci. 2011 Apr 17;9(1):21. doi: 10.1186/1477-5956-9-21.
32. Human ApoA-I overexpression diminishes LPS-induced systemic inflammation and multiple organ damage in mice. Li Y, etal., Eur J Pharmacol. 2008 Aug 20;590(1-3):417-22. doi: 10.1016/j.ejphar.2008.06.047. Epub 2008 Jun 16.
33. ApoA-I or ABCA1 expression suppresses fatty acid synthesis by reducing 27-hydroxycholesterol levels. Ma D, etal., Biochimie. 2014 Aug;103:101-8. doi: 10.1016/j.biochi.2014.04.010. Epub 2014 May 1.
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PMID:25060954   PMID:25113039   PMID:25117102   PMID:25170076   PMID:25170080   PMID:25194312   PMID:25227208   PMID:25241761   PMID:25248404   PMID:25341944   PMID:25359426   PMID:25374385  
PMID:25392541   PMID:25415591   PMID:25416956   PMID:25423138   PMID:25445031   PMID:25451254   PMID:25463085   PMID:25465061   PMID:25468275   PMID:25528002   PMID:25550459   PMID:25561462  
PMID:25595057   PMID:25613532   PMID:25651728   PMID:25653052   PMID:25692941   PMID:25759391   PMID:25789510   PMID:25793886   PMID:25818853   PMID:25820252   PMID:25849372   PMID:25884165  
PMID:25890187   PMID:25910212   PMID:25913481   PMID:25920915   PMID:25950566   PMID:25964115   PMID:25969892   PMID:25979856   PMID:26005953   PMID:26048453   PMID:26049118   PMID:26070092  
PMID:26073399   PMID:26073400   PMID:26086425   PMID:26118305   PMID:26168996   PMID:26173491   PMID:26175149   PMID:26186194   PMID:26200866   PMID:26207725   PMID:26238231   PMID:26261631  
PMID:26292220   PMID:26337083   PMID:26359513   PMID:26363436   PMID:26363640   PMID:26368306   PMID:26420021   PMID:26491253   PMID:26496610   PMID:26503474   PMID:26537097   PMID:26543096  
PMID:26552698   PMID:26562506   PMID:26582246   PMID:26617857   PMID:26621275   PMID:26641092   PMID:26661731   PMID:26662883   PMID:26681753   PMID:26682220   PMID:26687706   PMID:26758372  
PMID:26774504   PMID:26813964   PMID:26819136   PMID:26820473   PMID:26868508   PMID:26966279   PMID:26994915   PMID:27017521   PMID:27068509   PMID:27094595   PMID:27100352   PMID:27122373  
PMID:27155060   PMID:27155339   PMID:27171122   PMID:27173266   PMID:27183204   PMID:27199144   PMID:27233433   PMID:27240838   PMID:27317763   PMID:27377933   PMID:27404023   PMID:27444612  
PMID:27472885   PMID:27477018   PMID:27526664   PMID:27559042   PMID:27599772   PMID:27683106   PMID:27734225   PMID:27758769   PMID:27768903   PMID:27790714   PMID:27816355   PMID:27846285  
PMID:28038449   PMID:28042708   PMID:28073663   PMID:28093456   PMID:28167355   PMID:28168521   PMID:28181168   PMID:28183703   PMID:28238629   PMID:28279834   PMID:28304324   PMID:28372564  
PMID:28378321   PMID:28391888   PMID:28408323   PMID:28445313   PMID:28502492   PMID:28514442   PMID:28540474   PMID:28565870   PMID:28578353   PMID:28595037   PMID:28635360   PMID:28644829  
PMID:28675297   PMID:28710487   PMID:28754383   PMID:28770971   PMID:28802864   PMID:28887769   PMID:28939717   PMID:28957410   PMID:28969676   PMID:28992985   PMID:29030428   PMID:29031392  
PMID:29032752   PMID:29074586   PMID:29074589   PMID:29150341   PMID:29154726   PMID:29174954   PMID:29208698   PMID:29277345   PMID:29287080   PMID:29359590   PMID:29377875   PMID:29378195  
PMID:29401604   PMID:29440006   PMID:29442267   PMID:29444935   PMID:29447225   PMID:29509190   PMID:29581158   PMID:29618705   PMID:29618920   PMID:29623474   PMID:29626583   PMID:29680706  
PMID:29712830   PMID:29735542   PMID:29747660   PMID:29758034   PMID:29773713   PMID:29776362   PMID:29802959   PMID:29853648   PMID:29859275   PMID:29915952   PMID:29968409   PMID:30004304  
PMID:30004693   PMID:30024968   PMID:30092227   PMID:30096856   PMID:30097533   PMID:30119683   PMID:30132720   PMID:30184436   PMID:30249788   PMID:30328580   PMID:30343478   PMID:30367981  
PMID:30458687   PMID:30467071   PMID:30488199   PMID:30509867   PMID:30510601   PMID:30556889   PMID:30635405   PMID:30659061   PMID:30718702   PMID:30821416   PMID:30858459   PMID:30970222  
PMID:30971477   PMID:30996342   PMID:31003938   PMID:31080037   PMID:31180492   PMID:31184614   PMID:31188743   PMID:31270237   PMID:31273033   PMID:31343991   PMID:31391051   PMID:31401190  
PMID:31482740   PMID:31599692   PMID:31678510   PMID:31682461   PMID:31765698   PMID:31779197   PMID:31783518   PMID:31863971   PMID:31904503   PMID:31936876   PMID:31945064   PMID:31952546  
PMID:31980684   PMID:31981042   PMID:31992359   PMID:32092318   PMID:32113648   PMID:32189309   PMID:32194045   PMID:32282500   PMID:32296183   PMID:32418956   PMID:32437778   PMID:32491935  
PMID:32546165   PMID:32563265   PMID:32666307   PMID:32707033   PMID:32758395   PMID:32810603   PMID:32814053   PMID:32841328   PMID:32919081   PMID:32946930   PMID:32950994   PMID:32961276  
PMID:32989256   PMID:33029257   PMID:33194618   PMID:33216373   PMID:33305623   PMID:33413027   PMID:33430253   PMID:33547992   PMID:33591433   PMID:33652957   PMID:33667465   PMID:33717107  
PMID:33753020   PMID:33794863   PMID:33853556   PMID:33861588   PMID:33961781   PMID:34055102   PMID:34131170   PMID:34135129   PMID:34181800   PMID:34202121   PMID:34206021   PMID:34275798  
PMID:34311082   PMID:34414600   PMID:34472376   PMID:34500559   PMID:34591612   PMID:34613891   PMID:34666674   PMID:34723873   PMID:34732716   PMID:34851955   PMID:34873074   PMID:34903152  
PMID:35069437   PMID:35124280   PMID:35140322   PMID:35219348   PMID:35384245   PMID:35391932   PMID:35408859   PMID:35421932   PMID:35627123   PMID:35660638   PMID:35833506   PMID:35858961  
PMID:36082946   PMID:36095012   PMID:36203339   PMID:36244648   PMID:36360205   PMID:36509728   PMID:36525992   PMID:36655240   PMID:36864426  


Genomics

Comparative Map Data
APOA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,835,751 - 116,837,950 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11116,835,751 - 116,837,622 (-)EnsemblGRCh38hg38GRCh38
GRCh3711116,706,467 - 116,708,666 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,211,679 - 116,213,548 (-)NCBINCBI36Build 36hg18NCBI36
Celera11113,864,272 - 113,866,141 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,638,728 - 112,640,597 (-)NCBIHuRef
CHM1_111116,591,221 - 116,593,090 (-)NCBICHM1_1
T2T-CHM13v2.011116,850,858 - 116,853,057 (-)NCBIT2T-CHM13v2.0
Apoa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39946,139,928 - 46,141,767 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl946,139,878 - 46,141,764 (+)EnsemblGRCm39 Ensembl
GRCm38946,228,630 - 46,230,469 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl946,228,580 - 46,230,466 (+)EnsemblGRCm38mm10GRCm38
MGSCv37946,036,713 - 46,038,549 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,979,705 - 45,981,461 (+)NCBIMGSCv36mm8
Celera943,517,584 - 43,519,420 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.36NCBI
Apoa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2846,527,251 - 46,529,035 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl846,527,144 - 46,529,035 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx852,028,451 - 52,030,242 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0850,307,226 - 50,309,017 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0848,171,497 - 48,173,288 (+)NCBIRnor_WKY
Rnor_6.0850,525,091 - 50,526,875 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,525,091 - 50,526,875 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0849,151,163 - 49,152,947 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera846,109,311 - 46,111,065 (+)NCBICelera
RH 3.4 Map8472.0RGD
Cytogenetic Map8q22NCBI
Apoa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,170,331 - 18,172,298 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,170,331 - 18,172,298 (-)NCBIChiLan1.0ChiLan1.0
APOA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111115,606,136 - 115,608,335 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11115,606,136 - 115,608,122 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011111,673,539 - 111,675,428 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
APOA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1516,740,071 - 16,742,081 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,740,130 - 16,741,943 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,792,234 - 16,794,244 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0516,686,357 - 16,688,357 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl516,686,468 - 16,688,346 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1516,823,454 - 16,825,453 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0516,726,037 - 16,728,039 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0516,768,944 - 16,770,956 (+)NCBIUU_Cfam_GSD_1.0
Apoa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,189,637 - 99,191,475 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,111,052 - 2,112,854 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365422,111,055 - 2,112,626 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,216,392 - 44,218,713 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,216,481 - 44,218,360 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,288,730 - 49,290,611 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap9p12-p11NCBI
APOA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,201,967 - 108,203,902 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,201,439 - 108,203,609 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604317,846,715 - 17,848,683 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apoa1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478412,249,283 - 12,251,136 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478412,249,283 - 12,251,215 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APOA1
114 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000039.3(APOA1):c.162G>C (p.Val54=) single nucleotide variant Cardiomyopathy [RCV000029340]|Cardiovascular phenotype [RCV002399336]|Familial visceral amyloidosis, Ostertag type [RCV002496443]|not provided [RCV003114204] Chr11:116837039 [GRCh38]
Chr11:116707755 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.589C>T (p.Arg197Cys) single nucleotide variant APOLIPOPROTEIN A-I (MILANO) [RCV000019498] Chr11:116836023 [GRCh38]
Chr11:116706739 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.500C>G (p.Pro167Arg) single nucleotide variant APOLIPOPROTEIN A-I (GIESSEN) [RCV000019499]|not provided [RCV002513123] Chr11:116836112 [GRCh38]
Chr11:116706828 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000039.3(APOA1):c.391A>T (p.Lys131Ter) single nucleotide variant APOLIPOPROTEIN A-I (MARBURG) [RCV000019500] Chr11:116836221 [GRCh38]
Chr11:116706937 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER4) [RCV000019501]|Familial visceral amyloidosis, Ostertag type [RCV002467499]|not provided [RCV001851951] Chr11:116835948 [GRCh38]
Chr11:116706664 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000039.3(APOA1):c.478G>A (p.Glu160Lys) single nucleotide variant APOLIPOPROTEIN A-I (NORWAY) [RCV000019502] Chr11:116836134 [GRCh38]
Chr11:116706850 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.80C>G (p.Pro27Arg) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER3C) [RCV000019503] Chr11:116837121 [GRCh38]
Chr11:116707837 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) single nucleotide variant APOLIPOPROTEIN A-I (MUNSTER3B) [RCV000019504]|not provided [RCV001851952] Chr11:116837118 [GRCh38]
Chr11:116707834 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000039.3(APOA1):c.566C>G (p.Pro189Arg) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019505] Chr11:116836046 [GRCh38]
Chr11:116706762 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) single nucleotide variant Familial amyloid polyneuropathy, Iowa type [RCV000019506]|Familial visceral amyloidosis, Ostertag type [RCV002504810] Chr11:116837053 [GRCh38]
Chr11:116707769 [GRCh37]
Chr11:11q23.3		 pathogenic
APOA1, APOA1/APOC3 FUSION variation Apolipoproteins a-i and c-iii, combined deficiency of [RCV000019509]|High density lipoprotein deficiency, Detroit type [RCV000019510] Chr11:11q23 pathogenic
NC_000011.10:g.(?_116800700)_(116841000_?)del deletion Apolipoprotein A-I deficiency [RCV000019512] Chr11:116800700..116841000 [GRCh38]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) single nucleotide variant APOLIPOPROTEIN A-I (BALTIMORE) [RCV000019513]|Familial visceral amyloidosis, Ostertag type [RCV002496420]|not provided [RCV001508677] Chr11:116837100 [GRCh38]
Chr11:116707816 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000039.3(APOA1):c.678del (p.Leu227fs) deletion Apolipoprotein A-I deficiency [RCV000019514] Chr11:116835934 [GRCh38]
Chr11:116706650 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.322C>T (p.Gln108Ter) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019515] Chr11:116836290 [GRCh38]
Chr11:116707006 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.251T>G (p.Leu84Arg) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019516] Chr11:116836361 [GRCh38]
Chr11:116707077 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.67C>T (p.Gln23Ter) single nucleotide variant Tangier disease [RCV000019517]|not provided [RCV002514117] Chr11:116837134 [GRCh38]
Chr11:116707850 [GRCh37]
Chr11:11q23.3		 pathogenic
APOA1, 1-BP INS insertion Familial hypoalphalipoproteinemia [RCV000019518] Chr11:11q23 pathogenic
NM_000039.3(APOA1):c.166C>T (p.Gln56Ter) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019519] Chr11:116837035 [GRCh38]
Chr11:116707751 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.250_284delinsGTCAC (p.Leu84_Phe95delinsValThr) indel Familial visceral amyloidosis, Ostertag type [RCV000019520] Chr11:116836328..116836362 [GRCh38]
Chr11:116707044..116707078 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.220T>C (p.Trp74Arg) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019521] Chr11:116836392 [GRCh38]
Chr11:116707108 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.539T>A (p.Val180Glu) single nucleotide variant Apolipoprotein A-I deficiency [RCV000019522] Chr11:116836073 [GRCh38]
Chr11:116706789 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.43+1G>C single nucleotide variant Hypoalphalipoproteinemia, primary, 2 [RCV000019523] Chr11:116837344 [GRCh38]
Chr11:116708060 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.341T>C (p.Leu114Pro) single nucleotide variant Amyloidosis, cardiac and cutaneous [RCV000019524] Chr11:116836271 [GRCh38]
Chr11:116706987 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.518G>C (p.Arg173Pro) single nucleotide variant Amyloidosis, cardiac and cutaneous [RCV000019525] Chr11:116836094 [GRCh38]
Chr11:116706810 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.593T>C (p.Leu198Ser) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019526] Chr11:116836019 [GRCh38]
Chr11:116706735 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.595G>C (p.Ala199Pro) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000019527] Chr11:116836017 [GRCh38]
Chr11:116706733 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.524_535dup (p.175RA[4]) duplication not provided [RCV000722905] Chr11:116836076..116836077 [GRCh38]
Chr11:116706792..116706793 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116801587-116880319)x3 copy number gain See cases [RCV000140064] Chr11:116801587..116880319 [GRCh38]
Chr11:116672303..116751035 [GRCh37]
Chr11:116177513..116256245 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) single nucleotide variant Cardiovascular phenotype [RCV002328802]|Familial High Density Lipoprotein Deficiency [RCV000337002]|Familial visceral amyloidosis, Ostertag type [RCV000284267]|not provided [RCV001859796] Chr11:116836158 [GRCh38]
Chr11:116706874 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000039.3(APOA1):c.-11G>A single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000268463]|Hypoalphalipoproteinemia, primary, 1 [RCV000321194] Chr11:116837398 [GRCh38]
Chr11:116708114 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg) single nucleotide variant Cardiovascular phenotype [RCV002338877]|Familial visceral amyloidosis, Ostertag type [RCV000285625]|Hypoalphalipoproteinemia, primary, 1 [RCV000382429]|not provided [RCV001859795] Chr11:116836114 [GRCh38]
Chr11:116706830 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000039.3(APOA1):c.480G>T (p.Glu160Asp) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000324251]|Hypoalphalipoproteinemia, primary, 1 [RCV000376483] Chr11:116836132 [GRCh38]
Chr11:116706848 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.28G>A (p.Val10Met) single nucleotide variant Cardiovascular phenotype [RCV002436143]|Familial visceral amyloidosis, Ostertag type [RCV000268859]|Hypoalphalipoproteinemia, primary, 1 [RCV000365762]|not provided [RCV001850601] Chr11:116837360 [GRCh38]
Chr11:116708076 [GRCh37]
Chr11:11q23.3		 benign|uncertain significance
NM_000039.3(APOA1):c.9T>C (p.Ala3=) single nucleotide variant Cardiovascular phenotype [RCV002379173]|Familial visceral amyloidosis, Ostertag type [RCV000327031]|Hypoalphalipoproteinemia, primary, 1 [RCV000360809]|Hypoalphalipoproteinemia, primary, 2 [RCV002259802]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002259803]|not provided [RCV001699299] Chr11:116837379 [GRCh38]
Chr11:116708095 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser) single nucleotide variant Cardiovascular phenotype [RCV002348041]|Familial visceral amyloidosis, Ostertag type [RCV001105372]|Hypoalphalipoproteinemia, primary, 1 [RCV000328973]|not provided [RCV001726099]|not specified [RCV001193575] Chr11:116836050 [GRCh38]
Chr11:116706766 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000039.3(APOA1):c.732C>G (p.Pro244=) single nucleotide variant Cardiovascular phenotype [RCV002379172]|Familial visceral amyloidosis, Ostertag type [RCV000368370]|Hypoalphalipoproteinemia, primary, 1 [RCV000271540]|Hypoalphalipoproteinemia, primary, 2 [RCV002259798]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002259799]|not provided [RCV000905548]|not specified [RCV000779742] Chr11:116835880 [GRCh38]
Chr11:116706596 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000039.3(APOA1):c.116C>T (p.Ala39Val) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000398922]|Hypoalphalipoproteinemia, primary, 1 [RCV000308803]|not provided [RCV002520674] Chr11:116837085 [GRCh38]
Chr11:116707801 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.168G>A (p.Gln56=) single nucleotide variant Cardiovascular phenotype [RCV002402017]|Familial visceral amyloidosis, Ostertag type [RCV000314646]|Familial visceral amyloidosis, Ostertag type [RCV002480100]|Hypoalphalipoproteinemia, primary, 1 [RCV000367038]|not provided [RCV002522179] Chr11:116837033 [GRCh38]
Chr11:116707749 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000039.3(APOA1):c.*19C>G single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV000330090]|Hypoalphalipoproteinemia, primary, 1 [RCV000277267]|Hypoalphalipoproteinemia, primary, 2 [RCV002259796]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002259797] Chr11:116835789 [GRCh38]
Chr11:116706505 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr) single nucleotide variant Cardiovascular phenotype [RCV002436142]|Familial visceral amyloidosis, Ostertag type [RCV000396000]|Hypoalphalipoproteinemia, primary, 1 [RCV000278412]|not provided [RCV001859797]|not specified [RCV001269105] Chr11:116836328 [GRCh38]
Chr11:116707044 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) single nucleotide variant Cardiovascular phenotype [RCV002411194]|Familial visceral amyloidosis, Ostertag type [RCV000395998]|Hypoalphalipoproteinemia, primary, 1 [RCV000335636]|Hypoalphalipoproteinemia, primary, 2 [RCV002259800]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002259801]|not provided [RCV000892083]|not specified [RCV000779744] Chr11:116837020 [GRCh38]
Chr11:116707736 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000039.3(APOA1):c.85dup (p.Gln29fs) duplication Hypoalphalipoproteinemia, primary, 1 [RCV000019518]|not provided [RCV000599012] Chr11:116837115..116837116 [GRCh38]
Chr11:116707831..116707832 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 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
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000039.3(APOA1):c.532_533dup (p.His179fs) microsatellite Familial visceral amyloidosis, Ostertag type [RCV002493133]|not provided [RCV000684747] Chr11:116836078..116836079 [GRCh38]
Chr11:116706794..116706795 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 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
Single allele single nucleotide variant not provided [RCV001692500] Chr11:116835627 [GRCh38]
Chr11:116706343 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.564C>G (p.Ala188=) single nucleotide variant Cardiovascular phenotype [RCV002343769]|Familial visceral amyloidosis, Ostertag type [RCV002260209]|Hypoalphalipoproteinemia, primary, 2 [RCV002260210]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002260211]|not provided [RCV002070441]|not specified [RCV001582342] Chr11:116836048 [GRCh38]
Chr11:116706764 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000039.3(APOA1):c.201-150G>T single nucleotide variant not provided [RCV001550027] Chr11:116836561 [GRCh38]
Chr11:116707277 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) single nucleotide variant Cardiovascular phenotype [RCV002332565]|Familial visceral amyloidosis, Ostertag type [RCV001108699]|Hypoalphalipoproteinemia, primary, 1 [RCV001108700]|not provided [RCV001873185]|not specified [RCV000779743] Chr11:116837347 [GRCh38]
Chr11:116708063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) microsatellite Cardiovascular phenotype [RCV002370060]|Chronic kidney disease [RCV001171337]|Familial visceral amyloidosis, Ostertag type [RCV001262205]|not provided [RCV000788861]|not specified [RCV001824880] Chr11:116836219..116836221 [GRCh38]
Chr11:116706935..116706937 [GRCh37]
Chr11:11q23.3		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000039.3(APOA1):c.447G>A (p.Glu149=) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001106512]|Hypoalphalipoproteinemia, primary, 1 [RCV001106511] Chr11:116836165 [GRCh38]
Chr11:116706881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala) single nucleotide variant Cardiovascular phenotype [RCV002411631]|Familial visceral amyloidosis, Ostertag type [RCV001106513]|Hypoalphalipoproteinemia, primary, 1 [RCV001106514]|not provided [RCV001873509] Chr11:116837023 [GRCh38]
Chr11:116707739 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000039.3(APOA1):c.677C>T (p.Thr226Met) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001105370]|Hypoalphalipoproteinemia, primary, 1 [RCV001105371] Chr11:116835935 [GRCh38]
Chr11:116706651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.127G>C (p.Val43Leu) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001108697]|Hypoalphalipoproteinemia, primary, 1 [RCV001108698] Chr11:116837074 [GRCh38]
Chr11:116707790 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.201-211T>C single nucleotide variant not provided [RCV001686837] Chr11:116836622 [GRCh38]
Chr11:116707338 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.327G>A (p.Glu109=) single nucleotide variant Cardiovascular phenotype [RCV002320083]|not provided [RCV000910068]|not specified [RCV001729744] Chr11:116836285 [GRCh38]
Chr11:116707001 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000039.3(APOA1):c.705C>G (p.Leu235=) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001103452]|Hypoalphalipoproteinemia, primary, 1 [RCV001103451] Chr11:116835907 [GRCh38]
Chr11:116706623 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.483G>C (p.Leu161=) single nucleotide variant Cardiovascular phenotype [RCV002336950]|Familial visceral amyloidosis, Ostertag type [RCV002502863]|not provided [RCV000934589] Chr11:116836129 [GRCh38]
Chr11:116706845 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.771C>T (p.Leu257_Glu258=) single nucleotide variant not provided [RCV002967515] Chr11:116835841 [GRCh38]
Chr11:116706557 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.364C>T (p.Gln122Ter) single nucleotide variant Hypoalphalipoproteinemia, primary, 2 [RCV002251036] Chr11:116836248 [GRCh38]
Chr11:116706964 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000039.3(APOA1):c.200+204G>A single nucleotide variant not provided [RCV001713575] Chr11:116836797 [GRCh38]
Chr11:116707513 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.201-63C>T single nucleotide variant not provided [RCV001638922] Chr11:116836474 [GRCh38]
Chr11:116707190 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.200+33T>C single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV002260263]|Hypoalphalipoproteinemia, primary, 2 [RCV002260264]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002260265]|not provided [RCV001657542] Chr11:116836968 [GRCh38]
Chr11:116707684 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.200+134T>C single nucleotide variant not provided [RCV001595373] Chr11:116836867 [GRCh38]
Chr11:116707583 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.-21+67C>T single nucleotide variant not provided [RCV001637832] Chr11:116837538 [GRCh38]
Chr11:116708254 [GRCh37]
Chr11:11q23.3		 benign
Single allele single nucleotide variant not provided [RCV001710131] Chr11:116835630 [GRCh38]
Chr11:116706346 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.-29G>A single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001103535]|Hypoalphalipoproteinemia, primary, 1 [RCV001103534] Chr11:116837613 [GRCh38]
Chr11:116708329 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.625G>A (p.Gly209Ser) single nucleotide variant Chronic kidney disease [RCV001171350] Chr11:116835987 [GRCh38]
Chr11:116706703 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.43+41T>C single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV002260218]|Hypoalphalipoproteinemia, primary, 2 [RCV002260219]|Hypoalphalipoproteinemia, primary, 2, intermediate [RCV002260220]|not provided [RCV001613628] Chr11:116837304 [GRCh38]
Chr11:116708020 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.*17C>T single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV001103449]|Hypoalphalipoproteinemia, primary, 1 [RCV001103450] Chr11:116835791 [GRCh38]
Chr11:116706507 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) single nucleotide variant Cardiovascular phenotype [RCV002402560]|not provided [RCV001876253]|not specified [RCV001193576] Chr11:116837043 [GRCh38]
Chr11:116707759 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000039.3(APOA1):c.455A>G (p.Glu152Gly) single nucleotide variant not provided [RCV001508675] Chr11:116836157 [GRCh38]
Chr11:116706873 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.283T>C (p.Phe95Leu) single nucleotide variant not provided [RCV002568853]|not specified [RCV001526889] Chr11:116836329 [GRCh38]
Chr11:116707045 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.201-274C>T single nucleotide variant not provided [RCV001698825] Chr11:116836685 [GRCh38]
Chr11:116707401 [GRCh37]
Chr11:11q23.3		 benign
NM_000039.3(APOA1):c.605T>C (p.Leu202Pro) single nucleotide variant not provided [RCV001699853] Chr11:116836007 [GRCh38]
Chr11:116706723 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro) single nucleotide variant Cardiovascular phenotype [RCV002439206]|not provided [RCV001508676] Chr11:116836316 [GRCh38]
Chr11:116707032 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000039.3(APOA1):c.752T>A (p.Val251Asp) single nucleotide variant Cardiovascular phenotype [RCV002388637]|not specified [RCV001733359] Chr11:116835860 [GRCh38]
Chr11:116706576 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.526G>A (p.Ala176Thr) single nucleotide variant Cardiovascular phenotype [RCV002343816]|not provided [RCV001768706] Chr11:116836086 [GRCh38]
Chr11:116706802 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.530G>C (p.Arg177Pro) single nucleotide variant not provided [RCV001764913] Chr11:116836082 [GRCh38]
Chr11:116706798 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.611C>T (p.Ala204Val) single nucleotide variant not provided [RCV001770732] Chr11:116836001 [GRCh38]
Chr11:116706717 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.275C>T (p.Thr92Ile) single nucleotide variant not provided [RCV001758640] Chr11:116836337 [GRCh38]
Chr11:116707053 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.80C>A (p.Pro27His) single nucleotide variant Cardiovascular phenotype [RCV002422872]|Familial visceral amyloidosis, Ostertag type [RCV002489884]|not provided [RCV001869774]|not specified [RCV001822795] Chr11:116837121 [GRCh38]
Chr11:116707837 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.242T>A (p.Phe81Tyr) single nucleotide variant not provided [RCV001869754]|not specified [RCV001822436] Chr11:116836370 [GRCh38]
Chr11:116707086 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.328A>G (p.Met110Val) single nucleotide variant not provided [RCV001929724] Chr11:116836284 [GRCh38]
Chr11:116707000 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.11C>T (p.Ala4Val) single nucleotide variant not provided [RCV001896030] Chr11:116837377 [GRCh38]
Chr11:116708093 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.457G>A (p.Gly153Ser) single nucleotide variant not provided [RCV001971451] Chr11:116836155 [GRCh38]
Chr11:116706871 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.355G>T (p.Ala119Ser) single nucleotide variant not provided [RCV002023957] Chr11:116836257 [GRCh38]
Chr11:116706973 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_000039.3(APOA1):c.330G>C (p.Met110Ile) single nucleotide variant not provided [RCV001912177] Chr11:116836282 [GRCh38]
Chr11:116706998 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.130G>A (p.Asp44Asn) single nucleotide variant not provided [RCV002006484] Chr11:116837071 [GRCh38]
Chr11:116707787 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.245G>C (p.Ser82Thr) single nucleotide variant not provided [RCV001928789] Chr11:116836367 [GRCh38]
Chr11:116707083 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.542A>G (p.Asp181Gly) single nucleotide variant Hypoalphalipoproteinemia, primary, 2 [RCV001837078] Chr11:116836070 [GRCh38]
Chr11:116706786 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_000039.3(APOA1):c.379G>A (p.Asp127Asn) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV002484815]|not provided [RCV001968231] Chr11:116836233 [GRCh38]
Chr11:116706949 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.771C>G (p.Leu257=) single nucleotide variant not provided [RCV001941915] Chr11:116835841 [GRCh38]
Chr11:116706557 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.12G>A (p.Ala4=) single nucleotide variant Cardiovascular phenotype [RCV002386850]|not provided [RCV001974230] Chr11:116837376 [GRCh38]
Chr11:116708092 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.271G>T (p.Val91Leu) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV002498049]|not provided [RCV002018517] Chr11:116836341 [GRCh38]
Chr11:116707057 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.43+4G>A single nucleotide variant not provided [RCV001962317] Chr11:116837341 [GRCh38]
Chr11:116708057 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.794_796dup (p.Asn265dup) duplication not provided [RCV001878960] Chr11:116835815..116835816 [GRCh38]
Chr11:116706531..116706532 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.133G>A (p.Val45Met) single nucleotide variant not provided [RCV001898097] Chr11:116837068 [GRCh38]
Chr11:116707784 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.668A>G (p.His223Arg) single nucleotide variant not provided [RCV001975842] Chr11:116835944 [GRCh38]
Chr11:116706660 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.236C>T (p.Ser79Phe) single nucleotide variant Cardiovascular phenotype [RCV002443028]|not provided [RCV002015746] Chr11:116836376 [GRCh38]
Chr11:116707092 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication Glucose-6-phosphate transport defect [RCV001940046]|not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000039.3(APOA1):c.55C>T (p.Arg19Trp) single nucleotide variant not provided [RCV001940062] Chr11:116837146 [GRCh38]
Chr11:116707862 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.448C>A (p.Leu150Ile) single nucleotide variant not provided [RCV002035576] Chr11:116836164 [GRCh38]
Chr11:116706880 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.127G>A (p.Val43Met) single nucleotide variant Cardiovascular phenotype [RCV002386878]|Familial visceral amyloidosis, Ostertag type [RCV002486631]|not provided [RCV002017428] Chr11:116837074 [GRCh38]
Chr11:116707790 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.643G>C (p.Glu215Gln) single nucleotide variant not provided [RCV001931551] Chr11:116835969 [GRCh38]
Chr11:116706685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.103G>A (p.Val35Met) single nucleotide variant Cardiovascular phenotype [RCV002389011]|not provided [RCV001996517] Chr11:116837098 [GRCh38]
Chr11:116707814 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.200+19G>A single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV002494431]|not provided [RCV002126565] Chr11:116836982 [GRCh38]
Chr11:116707698 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.126C>T (p.Tyr42=) single nucleotide variant Familial visceral amyloidosis, Ostertag type [RCV002507849]|not provided [RCV002092378] Chr11:116837075 [GRCh38]
Chr11:116707791 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.237C>T (p.Ser79=) single nucleotide variant Cardiovascular phenotype [RCV002454342]|not provided [RCV002090283] Chr11:116836375 [GRCh38]
Chr11:116707091 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.726G>C (p.Leu242=) single nucleotide variant Cardiovascular phenotype [RCV002382356]|Familial visceral amyloidosis, Ostertag type [RCV002499960]|not provided [RCV002107518] Chr11:116835886 [GRCh38]
Chr11:116706602 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.43+1G>T single nucleotide variant Hereditary spastic paraplegia 50 [RCV000007774] Chr11:116837344 [GRCh38]
Chr11:116708060 [GRCh37]
Chr7:7q22.1
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.642C>T (p.Ala214=) single nucleotide variant Cardiovascular phenotype [RCV002363619]|not provided [RCV002134691] Chr11:116835970 [GRCh38]
Chr11:116706686 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.555G>C (p.Thr185=) single nucleotide variant Cardiovascular phenotype [RCV002346459]|Familial visceral amyloidosis, Ostertag type [RCV002486917]|not provided [RCV002152581] Chr11:116836057 [GRCh38]
Chr11:116706773 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.666G>A (p.Glu222=) single nucleotide variant Cardiovascular phenotype [RCV002361458]|not provided [RCV002206798] Chr11:116835946 [GRCh38]
Chr11:116706662 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.44-4T>G single nucleotide variant not provided [RCV002150553] Chr11:116837161 [GRCh38]
Chr11:116707877 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.789G>A (p.Lys263=) single nucleotide variant not provided [RCV002073738] Chr11:116835823 [GRCh38]
Chr11:116706539 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.315C>T (p.Gly105=) single nucleotide variant Cardiovascular phenotype [RCV002324559]|Familial visceral amyloidosis, Ostertag type [RCV002486851]|not provided [RCV002078283] Chr11:116836297 [GRCh38]
Chr11:116707013 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.200+8C>T single nucleotide variant not provided [RCV002079739] Chr11:116836993 [GRCh38]
Chr11:116707709 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.363G>A (p.Val121=) single nucleotide variant not provided [RCV002113440] Chr11:116836249 [GRCh38]
Chr11:116706965 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.44-14C>T single nucleotide variant not provided [RCV002170190] Chr11:116837171 [GRCh38]
Chr11:116707887 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.375G>T (p.Leu125=) single nucleotide variant Cardiovascular phenotype [RCV002346488]|not provided [RCV002123355] Chr11:116836237 [GRCh38]
Chr11:116706953 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.44-20G>A single nucleotide variant not provided [RCV002217943] Chr11:116837177 [GRCh38]
Chr11:116707893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.642C>G (p.Ala214=) single nucleotide variant not provided [RCV002180649] Chr11:116835970 [GRCh38]
Chr11:116706686 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.43+12C>T single nucleotide variant not provided [RCV002154507] Chr11:116837333 [GRCh38]
Chr11:116708049 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.147C>T (p.Ser49=) single nucleotide variant Cardiovascular phenotype [RCV002391219]|not provided [RCV002102449] Chr11:116837054 [GRCh38]
Chr11:116707770 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.201-14G>T single nucleotide variant not provided [RCV002143799] Chr11:116836425 [GRCh38]
Chr11:116707141 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.201-13del deletion not provided [RCV002203371] Chr11:116836424 [GRCh38]
Chr11:116707140 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.435G>C (p.Pro145=) single nucleotide variant Cardiovascular phenotype [RCV002331796]|not provided [RCV002142900] Chr11:116836177 [GRCh38]
Chr11:116706893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.201-9A>G single nucleotide variant not provided [RCV002198341] Chr11:116836420 [GRCh38]
Chr11:116707136 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.44-13C>G single nucleotide variant not provided [RCV002101150] Chr11:116837170 [GRCh38]
Chr11:116707886 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NC_000011.9:g.(?_116706880)_(116714426_?)del deletion not provided [RCV003119132] Chr11:116706880..116714426 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.339T>G (p.Asp113Glu) single nucleotide variant Cardiovascular phenotype [RCV002452013] Chr11:116836273 [GRCh38]
Chr11:116706989 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.662C>G (p.Thr221Ser) single nucleotide variant Cardiovascular phenotype [RCV002366733]|not provided [RCV003098314] Chr11:116835950 [GRCh38]
Chr11:116706666 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000039.3(APOA1):c.367C>T (p.Pro123Ser) single nucleotide variant Cardiovascular phenotype [RCV002452707]|not provided [RCV003094298] Chr11:116836245 [GRCh38]
Chr11:116706961 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.511G>A (p.Glu171Lys) single nucleotide variant Cardiovascular phenotype [RCV002351542] Chr11:116836101 [GRCh38]
Chr11:116706817 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_000039.3(APOA1):c.554C>T (p.Thr185Met) single nucleotide variant Cardiovascular phenotype [RCV002351921] Chr11:116836058 [GRCh38]
Chr11:116706774 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.186G>A (p.Leu62_Gly63=) single nucleotide variant Cardiovascular phenotype [RCV002415079] Chr11:116837015 [GRCh38]
Chr11:116707731 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.569A>G (p.Tyr190Cys) single nucleotide variant Cardiovascular phenotype [RCV002347521] Chr11:116836043 [GRCh38]
Chr11:116706759 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:116660464-116711974)x1 copy number loss not provided [RCV002472758] Chr11:116660464..116711974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.643G>A (p.Glu215Lys) single nucleotide variant Cardiovascular phenotype [RCV002361784]|not provided [RCV003098247] Chr11:116835969 [GRCh38]
Chr11:116706685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.27C>T (p.Ala9_Val10=) single nucleotide variant Cardiovascular phenotype [RCV002441551]|not provided [RCV003102234] Chr11:116837361 [GRCh38]
Chr11:116708077 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.57G>A (p.Arg19_His20=) single nucleotide variant Cardiovascular phenotype [RCV002359868] Chr11:116837144 [GRCh38]
Chr11:116707860 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.256G>A (p.Glu86Lys) single nucleotide variant Cardiovascular phenotype [RCV002426000] Chr11:116836356 [GRCh38]
Chr11:116707072 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.303G>A (p.Lys101_Glu102=) single nucleotide variant Cardiovascular phenotype [RCV002443988] Chr11:116836309 [GRCh38]
Chr11:116707025 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.779A>G (p.Tyr260Cys) single nucleotide variant not provided [RCV002301240] Chr11:116835833 [GRCh38]
Chr11:116706549 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.687G>A (p.Glu229_Lys230=) single nucleotide variant Cardiovascular phenotype [RCV002378018] Chr11:116835925 [GRCh38]
Chr11:116706641 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.12G>T (p.Ala4_Val5=) single nucleotide variant Cardiovascular phenotype [RCV002380815] Chr11:116837376 [GRCh38]
Chr11:116708092 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.766G>A (p.Ala256Thr) single nucleotide variant Cardiovascular phenotype [RCV002396485]|not provided [RCV003099710] Chr11:116835846 [GRCh38]
Chr11:116706562 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.177C>G (p.Gly59_Ser60=) single nucleotide variant Cardiovascular phenotype [RCV002407679] Chr11:116837024 [GRCh38]
Chr11:116707740 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.483G>T (p.Leu161_Gln162=) single nucleotide variant Cardiovascular phenotype [RCV002338136] Chr11:116836129 [GRCh38]
Chr11:116706845 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.703C>G (p.Leu235Val) single nucleotide variant Cardiovascular phenotype [RCV002378274] Chr11:116835909 [GRCh38]
Chr11:116706625 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.51G>A (p.Gln17_Ala18=) single nucleotide variant Cardiovascular phenotype [RCV002338614] Chr11:116837150 [GRCh38]
Chr11:116707866 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.699C>T (p.Pro233_Ala234=) single nucleotide variant Cardiovascular phenotype [RCV002364709] Chr11:116835913 [GRCh38]
Chr11:116706629 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.213T>G (p.Leu71_Asp72=) single nucleotide variant Cardiovascular phenotype [RCV002430536] Chr11:116836399 [GRCh38]
Chr11:116707115 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.724C>A (p.Leu242Met) single nucleotide variant Cardiovascular phenotype [RCV002371095]|not provided [RCV003103379] Chr11:116835888 [GRCh38]
Chr11:116706604 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.480G>A (p.Glu160_Leu161=) single nucleotide variant Cardiovascular phenotype [RCV002337947] Chr11:116836132 [GRCh38]
Chr11:116706848 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.43+3A>G single nucleotide variant Cardiovascular phenotype [RCV002331889] Chr11:116837342 [GRCh38]
Chr11:116708058 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.148G>A (p.Gly50Ser) single nucleotide variant Cardiovascular phenotype [RCV002389666] Chr11:116837053 [GRCh38]
Chr11:116707769 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.63C>T (p.Phe21_Trp22=) single nucleotide variant Cardiovascular phenotype [RCV002354130] Chr11:116837138 [GRCh38]
Chr11:116707854 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.233C>T (p.Thr78Ile) single nucleotide variant Cardiovascular phenotype [RCV002448270] Chr11:116836379 [GRCh38]
Chr11:116707095 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.488A>G (p.Glu163Gly) single nucleotide variant Cardiovascular phenotype [RCV002340529] Chr11:116836124 [GRCh38]
Chr11:116706840 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.539T>C (p.Val180Ala) single nucleotide variant Cardiovascular phenotype [RCV002347242] Chr11:116836073 [GRCh38]
Chr11:116706789 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.732C>T (p.Pro244_Val245=) single nucleotide variant Cardiovascular phenotype [RCV002380148] Chr11:116835880 [GRCh38]
Chr11:116706596 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.523C>G (p.Arg175Gly) single nucleotide variant Cardiovascular phenotype [RCV002340890] Chr11:116836089 [GRCh38]
Chr11:116706805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.191A>G (p.Lys64Arg) single nucleotide variant Cardiovascular phenotype [RCV002410663] Chr11:116837010 [GRCh38]
Chr11:116707726 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.265G>A (p.Gly89Ser) single nucleotide variant Cardiovascular phenotype [RCV002428734] Chr11:116836347 [GRCh38]
Chr11:116707063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.576C>G (p.Asp192Glu) single nucleotide variant Cardiovascular phenotype [RCV002359630] Chr11:116836036 [GRCh38]
Chr11:116706752 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.332G>A (p.Ser111Asn) single nucleotide variant Cardiovascular phenotype [RCV002326473] Chr11:116836280 [GRCh38]
Chr11:116706996 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.16C>T (p.Leu6_Thr7=) single nucleotide variant Cardiovascular phenotype [RCV002414689] Chr11:116837372 [GRCh38]
Chr11:116708088 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.411G>A (p.Glu137_Leu138=) single nucleotide variant Cardiovascular phenotype [RCV002323488] Chr11:116836201 [GRCh38]
Chr11:116706917 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.477C>T (p.His159_Glu160=) single nucleotide variant Cardiovascular phenotype [RCV002330679]|not provided [RCV003102629] Chr11:116836135 [GRCh38]
Chr11:116706851 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.74A>G (p.Asp25Gly) single nucleotide variant not provided [RCV002298052] Chr11:116837127 [GRCh38]
Chr11:116707843 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.765C>T (p.Ser255_Ala256=) single nucleotide variant Cardiovascular phenotype [RCV002396435] Chr11:116835847 [GRCh38]
Chr11:116706563 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.483G>A (p.Leu161_Gln162=) single nucleotide variant not provided [RCV002731181] Chr11:116836129 [GRCh38]
Chr11:116706845 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.577_592dup (p.Leu198Ter) duplication not provided [RCV002862974] Chr11:116836019..116836020 [GRCh38]
Chr11:116706735..116706736 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.714C>T (p.Leu238_Arg239=) single nucleotide variant not provided [RCV002613513] Chr11:116835898 [GRCh38]
Chr11:116706614 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.527C>T (p.Ala176Val) single nucleotide variant Inborn genetic diseases [RCV002778948] Chr11:116836085 [GRCh38]
Chr11:116706801 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.76G>C (p.Glu26Gln) single nucleotide variant not provided [RCV002815764] Chr11:116837125 [GRCh38]
Chr11:116707841 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.43+5G>A single nucleotide variant not provided [RCV002617377] Chr11:116837340 [GRCh38]
Chr11:116708056 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.200+9C>T single nucleotide variant not provided [RCV002972251] Chr11:116836992 [GRCh38]
Chr11:116707708 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.577G>T (p.Glu193Ter) single nucleotide variant not provided [RCV003034184] Chr11:116836035 [GRCh38]
Chr11:116706751 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.489G>A (p.Glu163_Lys164=) single nucleotide variant not provided [RCV002882060] Chr11:116836123 [GRCh38]
Chr11:116706839 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.460G>A (p.Ala154Thr) single nucleotide variant not provided [RCV002622241] Chr11:116836152 [GRCh38]
Chr11:116706868 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.201-11_201-10insG insertion not provided [RCV002953462] Chr11:116836421..116836422 [GRCh38]
Chr11:116707137..116707138 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.44-5C>G single nucleotide variant not provided [RCV002571085] Chr11:116837162 [GRCh38]
Chr11:116707878 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.367C>A (p.Pro123Thr) single nucleotide variant not provided [RCV002820300] Chr11:116836245 [GRCh38]
Chr11:116706961 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.389A>G (p.Lys130Arg) single nucleotide variant not provided [RCV002736736] Chr11:116836223 [GRCh38]
Chr11:116706939 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.44-18C>T single nucleotide variant not provided [RCV002639094] Chr11:116837175 [GRCh38]
Chr11:116707891 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.112C>G (p.Leu38Val) single nucleotide variant not provided [RCV002695240] Chr11:116837089 [GRCh38]
Chr11:116707805 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.639G>A (p.Leu213_Ala214=) single nucleotide variant not provided [RCV003054946] Chr11:116835973 [GRCh38]
Chr11:116706689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.102A>G (p.Arg34_Val35=) single nucleotide variant not provided [RCV002571083] Chr11:116837099 [GRCh38]
Chr11:116707815 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.200+13C>A single nucleotide variant not provided [RCV002735911] Chr11:116836988 [GRCh38]
Chr11:116707704 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.120T>C (p.Thr40_Val41=) single nucleotide variant not provided [RCV003025014] Chr11:116837081 [GRCh38]
Chr11:116707797 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.176G>T (p.Gly59Val) single nucleotide variant not provided [RCV002625975] Chr11:116837025 [GRCh38]
Chr11:116707741 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.508G>A (p.Glu170Lys) single nucleotide variant Inborn genetic diseases [RCV002930507] Chr11:116836104 [GRCh38]
Chr11:116706820 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.641C>T (p.Ala214Val) single nucleotide variant not provided [RCV002828652] Chr11:116835971 [GRCh38]
Chr11:116706687 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.378C>G (p.Asp126Glu) single nucleotide variant not provided [RCV003023298] Chr11:116836234 [GRCh38]
Chr11:116706950 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.39G>A (p.Leu13_Thr14=) single nucleotide variant not provided [RCV002890576] Chr11:116837349 [GRCh38]
Chr11:116708065 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.741G>C (p.Glu247Asp) single nucleotide variant not provided [RCV002801480] Chr11:116835871 [GRCh38]
Chr11:116706587 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.108G>A (p.Lys36_Asp37=) single nucleotide variant not provided [RCV002596683] Chr11:116837093 [GRCh38]
Chr11:116707809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.44-6C>T single nucleotide variant not provided [RCV002626278] Chr11:116837163 [GRCh38]
Chr11:116707879 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.100C>T (p.Arg34Ter) single nucleotide variant not provided [RCV003062460] Chr11:116837101 [GRCh38]
Chr11:116707817 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.590G>C (p.Arg197Pro) single nucleotide variant not provided [RCV003062459] Chr11:116836022 [GRCh38]
Chr11:116706738 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000039.3(APOA1):c.663C>G (p.Thr221_Glu222=) single nucleotide variant not provided [RCV002630294] Chr11:116835949 [GRCh38]
Chr11:116706665 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.477C>A (p.His159Gln) single nucleotide variant not provided [RCV002806738] Chr11:116836135 [GRCh38]
Chr11:116706851 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.452A>G (p.Gln151Arg) single nucleotide variant not provided [RCV002650647] Chr11:116836160 [GRCh38]
Chr11:116706876 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.228C>G (p.Ser76Arg) single nucleotide variant Inborn genetic diseases [RCV002718248] Chr11:116836384 [GRCh38]
Chr11:116707100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.507C>A (p.Gly169_Glu170=) single nucleotide variant not provided [RCV002601953] Chr11:116836105 [GRCh38]
Chr11:116706821 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.516G>T (p.Met172Ile) single nucleotide variant not provided [RCV002746033] Chr11:116836096 [GRCh38]
Chr11:116706812 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.602G>C (p.Arg201Pro) single nucleotide variant not provided [RCV003046127] Chr11:116836010 [GRCh38]
Chr11:116706726 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.537T>G (p.His179Gln) single nucleotide variant not provided [RCV002578207] Chr11:116836075 [GRCh38]
Chr11:116706791 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.201-13T>C single nucleotide variant not provided [RCV002582948] Chr11:116836424 [GRCh38]
Chr11:116707140 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000039.3(APOA1):c.227G>A (p.Ser76Asn) single nucleotide variant not provided [RCV002585026] Chr11:116836385 [GRCh38]
Chr11:116707101 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000039.3(APOA1):c.492G>A (p.Lys164_Leu165=) single nucleotide variant not provided [RCV002583920] Chr11:116836120 [GRCh38]
Chr11:116706836 [GRCh37]
Chr11:11q23.3		 likely benign