LPL (lipoprotein lipase) - Rat Genome Database
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Gene: LPL (lipoprotein lipase) Homo sapiens
Analyze
Symbol: LPL
Name: lipoprotein lipase
RGD ID: 70836
HGNC Page HGNC
Description: Exhibits several functions, including heparan sulfate proteoglycan binding activity; heparin binding activity; and lipase activity. Involved in several processes, including lipid homeostasis; positive regulation of lipid storage; and triglyceride-rich lipoprotein particle remodeling. Localizes to extracellular space. Implicated in Alzheimer's disease; artery disease (multiple); familial hyperlipidemia (multiple); muscular disease; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HDLCQ11; LIPD; phospholipase A1
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
Is Marker For: QTLs:   BP2_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl819,901,717 - 19,967,259 (+)EnsemblGRCh38hg38GRCh38
GRCh38819,939,253 - 19,967,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37819,796,764 - 19,824,770 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36819,840,862 - 19,869,050 (+)NCBINCBI36hg18NCBI36
Build 34819,841,057 - 19,869,049NCBI
Celera818,759,678 - 18,787,858 (+)NCBI
Cytogenetic Map8p21.3NCBI
HuRef818,336,820 - 18,365,002 (+)NCBIHuRef
CHM1_1819,998,390 - 20,026,574 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP,ISO)
(20S)-ginsenoside Rh1  (ISO)
(R)-noradrenaline  (ISO)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose 6-phosphate  (ISO)
2-butoxyethanol  (ISO)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (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)
3-aminobenzamide  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-phenylprop-2-enal  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-nonylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7alpha-hydroxycholesterol  (EXP)
8-Br-cAMP  (ISO)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acetylcholine  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine 6-phosphate  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
Aloe emodin  (EXP)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
ATP  (EXP)
benzbromarone  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-carotene  (ISO)
beta-D-glucosamine 6-sulfate  (ISO)
beta-naphthoflavone  (ISO)
bezafibrate  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
carbendazim  (ISO)
carbon nanotube  (ISO)
casticin  (EXP)
CGP 12177  (ISO)
chenodeoxycholic acid  (ISO)
Chikusetsusaponin-V  (ISO)
chloroform  (ISO)
chlorogenic acid  (ISO)
cholesterol  (EXP,ISO)
cholic acid  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (EXP,ISO)
cisplatin  (EXP,ISO)
clofibrate  (EXP,ISO)
clozapine  (ISO)
colforsin daropate hydrochloride  (ISO)
conjugated linoleic acid  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
cortisol  (EXP)
curcumin  (ISO)
cytochalasin B  (ISO)
D-gluconic acid  (ISO)
D-glucose  (EXP,ISO)
DDT  (EXP)
deoxycholic acid  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (EXP,ISO)
dibutylstannane  (EXP,ISO)
dichlorvos  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (EXP)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
duvoglustat  (ISO)
efavirenz  (EXP)
endosulfan  (ISO)
enilconazole  (EXP)
entinostat  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
etofibrate  (ISO)
fenofibrate  (EXP,ISO)
fluvastatin  (EXP)
folic acid  (ISO)
fulvestrant  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gemfibrozil  (EXP,ISO)
genistein  (ISO)
ginsenoside Rb2  (ISO)
ginsenoside Rd  (ISO)
ginsenoside Re  (ISO)
ginsenoside Rg1  (ISO)
glucose  (EXP,ISO)
griseofulvin  (ISO)
guggulsterone  (ISO)
GW 3965  (EXP)
GW 7647  (EXP)
heparin  (ISO)
Heptachlor epoxide  (ISO)
hesperetin  (EXP)
high-density lipoprotein cholesterol  (EXP)
hydrogen peroxide  (EXP)
indinavir  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP,ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
linalool  (EXP,ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
lovastatin  (ISO)
LY294002  (EXP,ISO)
mangiferin  (EXP)
melatonin  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
mifepristone  (ISO)
monocrotophos  (ISO)
morphine  (ISO)
myricetin  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naringin  (ISO)
nelfinavir  (ISO)
nevirapine  (EXP)
nickel atom  (EXP)
nicotinamide  (ISO)
nicotine  (ISO)
ochratoxin A  (EXP)
okadaic acid  (ISO)
orlistat  (EXP,ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (EXP)
PD 0325901  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phencyclidine  (ISO)
phenobarbital  (ISO)
Phenylamil  (ISO)
phenylephrine  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
picrotoxin  (ISO)
piperine  (ISO)
pirinixic acid  (ISO)
platycodin D  (ISO)
potassium chloride  (EXP,ISO)
pravastatin  (ISO)
prazosin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (ISO)
progesterone  (ISO)
propamocarb  (ISO)
propranolol  (ISO)
pyrazinecarboxamide  (ISO)
raloxifene  (EXP,ISO)
resveratrol  (EXP,ISO)
ritonavir  (ISO)
rotenone  (ISO)
saquinavir  (ISO)
SB 431542  (EXP)
simvastatin  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
stavudine  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetrahydrocurcumin  (ISO)
thapsigargin  (EXP)
theophylline  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
tributylstannane  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triflumizole  (EXP,ISO)
triphenyl phosphate  (EXP,ISO)
troglitazone  (EXP,ISO)
undecane  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vancomycin  (ISO)
venlafaxine hydrochloride  (ISO)
very-low-density lipoprotein triglyceride  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
yohimbine  (ISO)
zaragozic acid A  (ISO)
zidovudine  (EXP,ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zingerone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to fatty acid  (ISO,ISS)
cellular response to nutrient  (ISO,ISS)
cholesterol homeostasis  (IMP)
chylomicron remodeling  (IC,IMP,TAS)
fatty acid biosynthetic process  (IBA,IC,IDA,ISS)
fatty acid metabolic process  (IDA)
lipid catabolic process  (IBA,ISO)
lipid metabolic process  (IEA)
low-density lipoprotein particle mediated signaling  (IMP)
negative regulation of cellular response to insulin stimulus  (IEA,ISO)
phospholipid metabolic process  (ISS)
positive regulation of chemokine (C-X-C motif) ligand 2 production  (ISO,ISS)
positive regulation of chemokine production  (IMP)
positive regulation of cholesterol storage  (IMP)
positive regulation of fat cell differentiation  (IMP)
positive regulation of inflammatory response  (IC,ISO,ISS)
positive regulation of interleukin-1 beta production  (ISO,ISS)
positive regulation of interleukin-6 production  (ISO,ISS)
positive regulation of lipid storage  (TAS)
positive regulation of macrophage derived foam cell differentiation  (IC,ISO)
positive regulation of sequestering of triglyceride  (IMP)
positive regulation of tumor necrosis factor production  (ISO,ISS)
regulation of lipoprotein lipase activity  (TAS)
response to bacterium  (IEA,ISO)
response to cold  (IEA,ISO)
response to drug  (IEA,ISO)
response to glucose  (ISS)
retinoid metabolic process  (TAS)
triglyceride biosynthetic process  (IEA,ISO)
triglyceride catabolic process  (IBA,IDA,ISO,ISS)
triglyceride homeostasis  (IGI)
triglyceride metabolic process  (ISS)
very-low-density lipoprotein particle remodeling  (IDA,ISS)

Cellular Component

References

References - curated
1. Abu-Amero KK, etal., Arch Pathol Lab Med. 2003 May;127(5):597-600.
2. Al-Muzafar HM and Amin KA, Exp Ther Med. 2018 Oct;16(4):2938-2948. doi: 10.3892/etm.2018.6563. Epub 2018 Aug 2.
3. Annuzzi G, etal., Nutr Metab Cardiovasc Dis. 2008 Oct;18(8):531-8. Epub 2008 Mar 5.
4. Austin MA, etal., Atherosclerosis 1999 Jan;142(1):79-87.
5. Ayyasamy R and Leelavinothan P, Pharm Biol. 2016 Nov;54(11):2521-2527. doi: 10.3109/13880209.2016.1168852. Epub 2016 May 9.
6. Baum L, etal., Am J Med Genet. 1999 Apr 16;88(2):136-9.
7. Blain JF, etal., Eur J Neurosci. 2006 Sep;24(5):1245-51. doi: 10.1111/j.1460-9568.2006.05007.x. Epub 2006 Sep 8.
8. Chang H, etal., BMC Complement Altern Med. 2016 Mar 22;16:103. doi: 10.1186/s12906-016-1083-3.
9. Chen P, etal., J Biomed Sci. 2005;12(4):651-8. Epub 2005 Nov 10.
10. Cho YS, etal., Exp Mol Med. 2008 Oct 31;40(5):523-32.
11. Faustinella F, etal., J Biol Chem 1991 Aug 5;266(22):14418-24.
12. GOA_HUMAN data from the GO Consortium
13. Gomes Natal DI, etal., Nutrition. 2016 Sep;32(9):1011-8. doi: 10.1016/j.nut.2016.02.008. Epub 2016 Mar 4.
14. Gong H, etal., J Histochem Cytochem. 2013 Dec;61(12):857-68. doi: 10.1369/0022155413505601. Epub 2013 Sep 4.
15. Gorres-Martens BK, etal., Physiol Rep. 2018 Jul;6(13):e13783. doi: 10.14814/phy2.13783.
16. Hokanson JE, etal., Am J Hum Genet 1999 Feb;64(2):608-18.
17. Izar MC, etal., Atherosclerosis. 2009 May;204(1):165-70. Epub 2008 Aug 14.
18. KEGG
19. Levak-Frank S, etal., J Clin Invest 1995 Aug;96(2):976-86.
20. López YR, etal., Curr Drug Deliv. 2016;13(1):158-69.
21. Ma W, etal., Wei Sheng Yan Jiu. 2007 May;36(3):320-2.
22. Mani V, etal., Chem Biol Interact. 2017 Jun 25;272:197-206. doi: 10.1016/j.cbi.2017.04.019. Epub 2017 Apr 22.
23. Martin-Rehrmann MD, etal., Neurosci Lett. 2002 Aug 9;328(2):109-12.
24. Mead JR, etal., J Mol Med 2002 Dec;80(12):753-69. Epub 2002 Oct 24.
25. Ng MC, etal., Clin Genet. 2006 Jul;70(1):20-8.
26. Niu YG and Evans RD, Am J Physiol Endocrinol Metab. 2008 Nov;295(5):E1106-16. Epub 2008 Sep 9.
27. OMIM Disease Annotation Pipeline
28. Papassotiropoulos A, etal., J Clin Psychiatry. 2005 Jul;66(7):940-7.
29. Perron P, etal., J Endocrinol Invest. 2007 Jul-Aug;30(7):551-7.
30. Pipeline to import KEGG annotations from KEGG into RGD
31. Pipeline to import SMPDB annotations from SMPDB into RGD
32. Ramírez NM, etal., Biomed Pharmacother. 2017 Jul;91:938-945. doi: 10.1016/j.biopha.2017.05.015. Epub 2017 May 13.
33. Razzaghi H, etal., Hum Genet. 2000 Sep;107(3):257-67.
34. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. RGD automated import pipeline for gene-chemical interactions
36. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. Sato T, etal., Kidney Int. 2003 Nov;64(5):1780-6.
38. Scacchi R, etal., Neurosci Lett. 2004 Sep 2;367(2):177-80. doi: 10.1016/j.neulet.2004.05.111.
39. Scribner KA, etal., Metabolism. 2000 Sep;49(9):1106-10.
40. Tan L, etal., Curr Neurovasc Res. 2017;14(1):3-10. doi: 10.2174/1567202613666161027101100.
41. Vaziri ND, etal., Clin Exp Nephrol. 2012 Apr;16(2):238-43. Epub 2011 Oct 19.
42. Wang H, etal., Diabetes. 2009 Jan;58(1):116-24. Epub 2008 Oct 24.
43. Wang H, etal., Med Sci Monit. 2018 Jul 3;24:4583-4591. doi: 10.12659/MSM.907228.
44. Wang XL, etal., Circulation. 1996 Apr 1;93(7):1339-45.
45. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
46. Yang Q, etal., Zhonghua Gan Zang Bing Za Zhi. 2016 Nov 20;24(11):852-858.
47. Yang W, etal., Hum Genet. 2004 Jun;115(1):8-12. Epub 2004 May 1.
48. Yu XH, etal., Biochem Biophys Res Commun. 2006 Mar 3;341(1):82-7. Epub 2006 Jan 9.
49. Zhang Y, etal., J Appl Toxicol. 2016 Dec;36(12):1579-1590. doi: 10.1002/jat.3319. Epub 2016 Apr 12.
50. Zhu TL, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2016 Mar 8;32(3):230-233. doi: 10.13459/j.cnki.cjap.2016.03.011.
Additional References at PubMed
PMID:182536   PMID:1281473   PMID:1371284   PMID:1400331   PMID:1406652   PMID:1479292   PMID:1511985   PMID:1521525   PMID:1537564   PMID:1576758   PMID:1598907   PMID:1619366  
PMID:1639392   PMID:1674945   PMID:1702428   PMID:1730727   PMID:1731801   PMID:1737848   PMID:1752947   PMID:1969408   PMID:1975597   PMID:2010533   PMID:2038366   PMID:2110364  
PMID:2121025   PMID:2243796   PMID:2294743   PMID:2340307   PMID:2349938   PMID:2536938   PMID:2701938   PMID:2765475   PMID:3355847   PMID:3515966   PMID:3597382   PMID:3692485  
PMID:3823907   PMID:3973011   PMID:7510694   PMID:7592706   PMID:7592875   PMID:7647785   PMID:7686151   PMID:7713910   PMID:7753827   PMID:7806969   PMID:7818530   PMID:7906986  
PMID:7989348   PMID:8096693   PMID:8125298   PMID:8135797   PMID:8144523   PMID:8288243   PMID:8301230   PMID:8308035   PMID:8325986   PMID:8449037   PMID:8486765   PMID:8567671  
PMID:8956048   PMID:9183545   PMID:9298816   PMID:9374130   PMID:9401010   PMID:9430364   PMID:9519338   PMID:9662394   PMID:9719626   PMID:10085125   PMID:10391209   PMID:10660334  
PMID:10727238   PMID:11073182   PMID:11096142   PMID:11126401   PMID:11132601   PMID:11140837   PMID:11171287   PMID:11194013   PMID:11205691   PMID:11229437   PMID:11284423   PMID:11316129  
PMID:11341749   PMID:11342582   PMID:11395037   PMID:11427211   PMID:11441189   PMID:11484171   PMID:11500192   PMID:11533368   PMID:11534394   PMID:11579204   PMID:11593500   PMID:11605530  
PMID:11680797   PMID:11683775   PMID:11702052   PMID:11702219   PMID:11711487   PMID:11714857   PMID:11714860   PMID:11730816   PMID:11796707   PMID:11834518   PMID:11852057   PMID:11893776  
PMID:11893778   PMID:11897170   PMID:11899831   PMID:11921083   PMID:11947965   PMID:11996946   PMID:12032167   PMID:12042669   PMID:12044583   PMID:12082592   PMID:12107736   PMID:12117735  
PMID:12133533   PMID:12164879   PMID:12174215   PMID:12208477   PMID:12226739   PMID:12230584   PMID:12370850   PMID:12408999   PMID:12446192   PMID:12477932   PMID:12501246   PMID:12514935  
PMID:12544508   PMID:12573449   PMID:12636935   PMID:12647273   PMID:12655575   PMID:12679477   PMID:12687649   PMID:12690214   PMID:12701046   PMID:12704407   PMID:12732844   PMID:12740382  
PMID:12746411   PMID:12747600   PMID:12755701   PMID:12777470   PMID:12782148   PMID:12793009   PMID:12818414   PMID:12862202   PMID:12865761   PMID:12866915   PMID:12876415   PMID:12889841  
PMID:12905705   PMID:12915220   PMID:12919138   PMID:12964943   PMID:12966036   PMID:14553962   PMID:14564687   PMID:14570890   PMID:14580156   PMID:14580165   PMID:14581156   PMID:14660566  
PMID:14669227   PMID:14693718   PMID:14702039   PMID:14764824   PMID:14967813   PMID:14984315   PMID:14988233   PMID:14988305   PMID:15019539   PMID:15051515   PMID:15060087   PMID:15076187  
PMID:15115692   PMID:15135251   PMID:15155715   PMID:15178420   PMID:15189363   PMID:15202783   PMID:15221136   PMID:15253101   PMID:15256516   PMID:15257172   PMID:15270617   PMID:15292370  
PMID:15292372   PMID:15356086   PMID:15386377   PMID:15489334   PMID:15543643   PMID:15545743   PMID:15562208   PMID:15608561   PMID:15637076   PMID:15657615   PMID:15696473   PMID:15699916  
PMID:15721013   PMID:15749185   PMID:15764642   PMID:15793775   PMID:15795426   PMID:15802535   PMID:15857159   PMID:15858619   PMID:15878772   PMID:15896905   PMID:15928243   PMID:15939061  
PMID:15961789   PMID:15979432   PMID:15994321   PMID:16015281   PMID:16029634   PMID:16030523   PMID:16086925   PMID:16106048   PMID:16122151   PMID:16135440   PMID:16141008   PMID:16142021  
PMID:16168296   PMID:16169070   PMID:16179346   PMID:16195478   PMID:16205020   PMID:16253639   PMID:16256241   PMID:16343038   PMID:16344560   PMID:16353345   PMID:16357806   PMID:16364275  
PMID:16369102   PMID:16378107   PMID:16416313   PMID:16418216   PMID:16419488   PMID:16430904   PMID:16446009   PMID:16449872   PMID:16451134   PMID:16460718   PMID:16466345   PMID:16502470  
PMID:16517593   PMID:16519597   PMID:16534528   PMID:16542392   PMID:16544732   PMID:16552397   PMID:16630553   PMID:16635607   PMID:16651467   PMID:16702309   PMID:16741292   PMID:16755277  
PMID:16763159   PMID:16770077   PMID:16776623   PMID:16799404   PMID:16822320   PMID:16829344   PMID:16837242   PMID:16840197   PMID:16864937   PMID:16894468   PMID:16896939   PMID:16926441  
PMID:16928730   PMID:16989840   PMID:17001213   PMID:17006673   PMID:17018885   PMID:17029199   PMID:17032721   PMID:17058522   PMID:17072956   PMID:17093291   PMID:17130180   PMID:17137217  
PMID:17157861   PMID:17163816   PMID:17244606   PMID:17291198   PMID:17299085   PMID:17299379   PMID:17311894   PMID:17318300   PMID:17328917   PMID:17342071   PMID:17347923   PMID:17356047  
PMID:17374417   PMID:17428620   PMID:17436307   PMID:17463246   PMID:17473385   PMID:17476032   PMID:17484619   PMID:17487735   PMID:17517063   PMID:17533471   PMID:17535427   PMID:17555736  
PMID:17560523   PMID:17562973   PMID:17568951   PMID:17587400   PMID:17615573   PMID:17620184   PMID:17644777   PMID:17652898   PMID:17653444   PMID:17662793   PMID:17681919   PMID:17700364  
PMID:17705673   PMID:17706445   PMID:17717288   PMID:17721767   PMID:17726453   PMID:17727701   PMID:17761930   PMID:17803213   PMID:17855807   PMID:17903299   PMID:17919884   PMID:17939375  
PMID:17997385   PMID:18020971   PMID:18068174   PMID:18175800   PMID:18187430   PMID:18187620   PMID:18193043   PMID:18193044   PMID:18193046   PMID:18223635   PMID:18242618   PMID:18275685  
PMID:18275964   PMID:18325076   PMID:18336668   PMID:18354102   PMID:18449420   PMID:18454146   PMID:18494281   PMID:18513389   PMID:18534873   PMID:18535540   PMID:18590804   PMID:18596051  
PMID:18603820   PMID:18616755   PMID:18619685   PMID:18635818   PMID:18636124   PMID:18649389   PMID:18660489   PMID:18676680   PMID:18681781   PMID:18693040   PMID:18724972   PMID:18821565  
PMID:18922999   PMID:18927546   PMID:18986377   PMID:18996102   PMID:19004026   PMID:19018513   PMID:19028676   PMID:19034041   PMID:19034316   PMID:19052449   PMID:19060906   PMID:19060910  
PMID:19060911   PMID:19099922   PMID:19131662   PMID:19148283   PMID:19155782   PMID:19167106   PMID:19170196   PMID:19185650   PMID:19191728   PMID:19207029   PMID:19246456   PMID:19254215  
PMID:19259048   PMID:19295657   PMID:19299407   PMID:19335919   PMID:19336370   PMID:19336475   PMID:19340428   PMID:19357293   PMID:19367093   PMID:19367320   PMID:19368142   PMID:19403283  
PMID:19420105   PMID:19428034   PMID:19471043   PMID:19479237   PMID:19489872   PMID:19501493   PMID:19534808   PMID:19542565   PMID:19556723   PMID:19558660   PMID:19563912   PMID:19578796  
PMID:19584682   PMID:19596235   PMID:19602472   PMID:19625176   PMID:19629056   PMID:19642912   PMID:19656773   PMID:19664517   PMID:19689828   PMID:19692168   PMID:19709746   PMID:19729601  
PMID:19766899   PMID:19772655   PMID:19773416   PMID:19780863   PMID:19818126   PMID:19834535   PMID:19875996   PMID:19878569   PMID:19884647   PMID:19888660   PMID:19899640   PMID:19910634  
PMID:19913121   PMID:19936222   PMID:19948975   PMID:19956635   PMID:20031538   PMID:20031551   PMID:20031591   PMID:20075597   PMID:20092038   PMID:20099167   PMID:20108206   PMID:20124439  
PMID:20139978   PMID:20150529   PMID:20160193   PMID:20167577   PMID:20228263   PMID:20235787   PMID:20301485   PMID:20347446   PMID:20350420   PMID:20385819   PMID:20400780   PMID:20403997  
PMID:20410100   PMID:20416077   PMID:20421589   PMID:20429872   PMID:20430250   PMID:20430392   PMID:20452482   PMID:20506644   PMID:20536507   PMID:20538960   PMID:20565774   PMID:20571754  
PMID:20581395   PMID:20588308   PMID:20595410   PMID:20596061   PMID:20602615   PMID:20616609   PMID:20628086   PMID:20634891   PMID:20650961   PMID:20657596   PMID:20673868   PMID:20679960  
PMID:20686565   PMID:20691829   PMID:20693566   PMID:20694148   PMID:20712903   PMID:20714348   PMID:20836743   PMID:20855565   PMID:20864672   PMID:20926921   PMID:20929345   PMID:20943490  
PMID:21044743   PMID:21060192   PMID:21127884   PMID:21145461   PMID:21146168   PMID:21159338   PMID:21162862   PMID:21193198   PMID:21252145   PMID:21252727   PMID:21347282   PMID:21385844  
PMID:21386085   PMID:21398697   PMID:21419757   PMID:21448664   PMID:21478160   PMID:21499891   PMID:21508119   PMID:21518912   PMID:21621348   PMID:21722517   PMID:21816453   PMID:21832049  
PMID:21840003   PMID:21854610   PMID:21862952   PMID:21873635   PMID:21909109   PMID:21943158   PMID:21966368   PMID:21978733   PMID:21980507   PMID:21988832   PMID:22018640   PMID:22078753  
PMID:22095987   PMID:22101375   PMID:22123668   PMID:22171074   PMID:22239554   PMID:22244040   PMID:22286219   PMID:22368174   PMID:22399527   PMID:22541364   PMID:22729917   PMID:22772754  
PMID:22773878   PMID:22810051   PMID:22820186   PMID:22828442   PMID:22837712   PMID:22916037   PMID:23008484   PMID:23056264   PMID:23089926   PMID:23320821   PMID:23344322   PMID:23376485  
PMID:23377670   PMID:23478142   PMID:23505323   PMID:23614796   PMID:23623643   PMID:23661675   PMID:23726366   PMID:23735640   PMID:23761384   PMID:23880163   PMID:23902956   PMID:23991054  
PMID:24009459   PMID:24023261   PMID:24081181   PMID:24097068   PMID:24121499   PMID:24205968   PMID:24212298   PMID:24223199   PMID:24262325   PMID:24308220   PMID:24314358   PMID:24340925  
PMID:24386095   PMID:24400599   PMID:24407533   PMID:24458708   PMID:24462462   PMID:24591733   PMID:24608080   PMID:24646025   PMID:24704550   PMID:24704626   PMID:24762672   PMID:24793350  
PMID:24847699   PMID:24886709   PMID:24905278   PMID:24921113   PMID:24974629   PMID:24988117   PMID:24990426   PMID:25073452   PMID:25131724   PMID:25149060   PMID:25156894   PMID:25239670  
PMID:25387803   PMID:25445417   PMID:25554608   PMID:25566792   PMID:25579610   PMID:25589507   PMID:25595992   PMID:25597500   PMID:25626708   PMID:25784555   PMID:25798074   PMID:25809647  
PMID:25811490   PMID:25897955   PMID:25948680   PMID:25966443   PMID:25995285   PMID:26025183   PMID:26026161   PMID:26101956   PMID:26188224   PMID:26214456   PMID:26342331   PMID:26370976  
PMID:26388538   PMID:26420199   PMID:26503844   PMID:26558352   PMID:26589911   PMID:26725083   PMID:26820803   PMID:26853140   PMID:26975783   PMID:26999119   PMID:27040450   PMID:27055971  
PMID:27114411   PMID:27159952   PMID:27185377   PMID:27206937   PMID:27270932   PMID:27337956   PMID:27400425   PMID:27412455   PMID:27415775   PMID:27421877   PMID:27494936   PMID:27573733  
PMID:27578112   PMID:27676127   PMID:27757836   PMID:27845686   PMID:27864281   PMID:27875259   PMID:27908779   PMID:27929370   PMID:27984852   PMID:28126606   PMID:28143480   PMID:28267856  
PMID:28275220   PMID:28293042   PMID:28327359   PMID:28397436   PMID:28413163   PMID:28476858   PMID:28502159   PMID:28502509   PMID:28640651   PMID:28687421   PMID:28689531   PMID:28694296  
PMID:28777751   PMID:28916403   PMID:29153744   PMID:29175215   PMID:29206143   PMID:29288010   PMID:29303250   PMID:29438437   PMID:29517609   PMID:29555209   PMID:29615667   PMID:29626981  
PMID:29687697   PMID:29718838   PMID:29794473   PMID:29899144   PMID:29953583   PMID:30559189   PMID:30685441   PMID:30694319   PMID:30932419   PMID:30944368   PMID:31072929   PMID:31208038  
PMID:31323462   PMID:31519763   PMID:31543446   PMID:31599081   PMID:31619059   PMID:31645434   PMID:31769250   PMID:31923423   PMID:32034094   PMID:32814053   PMID:32833105   PMID:33526736  


Genomics

Candidate Gene Status
LPL is a candidate Gene for QTL BW300_H
LPL is a candidate Gene for QTL GLUCO108_H
LPL is a candidate Gene for QTL GLUCO109_H
LPL is a candidate Gene for QTL BW512_H
Comparative Map Data
LPL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl819,901,717 - 19,967,259 (+)EnsemblGRCh38hg38GRCh38
GRCh38819,939,253 - 19,967,259 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37819,796,764 - 19,824,770 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36819,840,862 - 19,869,050 (+)NCBINCBI36hg18NCBI36
Build 34819,841,057 - 19,869,049NCBI
Celera818,759,678 - 18,787,858 (+)NCBI
Cytogenetic Map8p21.3NCBI
HuRef818,336,820 - 18,365,002 (+)NCBIHuRef
CHM1_1819,998,390 - 20,026,574 (+)NCBICHM1_1
Lpl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39869,333,207 - 69,359,584 (+)NCBIGRCm39mm39
GRCm39 Ensembl869,333,143 - 69,360,100 (+)Ensembl
GRCm38868,880,555 - 68,906,932 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl868,880,491 - 68,907,448 (+)EnsemblGRCm38mm10GRCm38
MGSCv37871,404,454 - 71,430,831 (+)NCBIGRCm37mm9NCBIm37
MGSCv36871,809,543 - 71,835,921 (+)NCBImm8
Celera871,423,790 - 71,450,108 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map833.88NCBI
Lpl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21620,830,055 - 20,853,855 (-)NCBI
Rnor_6.0 Ensembl1622,537,056 - 22,561,496 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01622,537,687 - 22,561,487 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01622,432,084 - 22,455,950 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41622,533,105 - 22,556,905 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11622,532,512 - 22,556,890 (-)NCBI
Celera1620,988,473 - 21,012,282 (-)NCBICelera
RH 3.4 Map16252.82RGD
Cytogenetic Map16p14NCBI
Lpl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540343,646,084 - 43,673,967 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540343,646,084 - 43,672,116 (+)NCBIChiLan1.0ChiLan1.0
LPL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1816,113,415 - 16,142,113 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl816,113,415 - 16,142,966 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0819,164,541 - 19,193,100 (+)NCBIMhudiblu_PPA_v0panPan3
LPL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2537,079,756 - 37,102,700 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12537,078,306 - 37,102,729 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Lpl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365554,084,099 - 4,108,219 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LPL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl144,104,772 - 4,135,814 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1144,104,761 - 4,134,964 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap14q12-q14NCBI
LPL
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1818,009,049 - 18,038,315 (+)NCBI
ChlSab1.1 Ensembl818,009,093 - 18,038,598 (+)Ensembl
Lpl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475815,652,553 - 15,680,107 (+)NCBI

Position Markers
RH36522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,823,351 - 19,823,544UniSTSGRCh37
Build 36819,867,631 - 19,867,824RGDNCBI36
Celera818,786,439 - 18,786,632RGD
Cytogenetic Map8p22UniSTS
HuRef818,363,583 - 18,363,776UniSTS
GeneMap99-GB4 RH Map864.82UniSTS
RH70259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,824,440 - 19,824,604UniSTSGRCh37
Build 36819,868,720 - 19,868,884RGDNCBI36
Celera818,787,528 - 18,787,692RGD
Cytogenetic Map8p22UniSTS
HuRef818,364,672 - 18,364,836UniSTS
GeneMap99-GB4 RH Map881.83UniSTS
D8S1948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,822,892 - 19,823,002UniSTSGRCh37
Build 36819,867,172 - 19,867,282RGDNCBI36
Celera818,785,980 - 18,786,090RGD
Cytogenetic Map8p22UniSTS
HuRef818,363,124 - 18,363,234UniSTS
Whitehead-YAC Contig Map8 UniSTS
SHGC-85707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,820,064 - 19,820,336UniSTSGRCh37
Build 36819,864,344 - 19,864,616RGDNCBI36
Celera818,783,151 - 18,783,423RGD
Cytogenetic Map8p22UniSTS
HuRef818,360,296 - 18,360,568UniSTS
TNG Radiation Hybrid Map810306.0UniSTS
GDB:177387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,815,450 - 19,815,576UniSTSGRCh37
Build 36819,859,730 - 19,859,856RGDNCBI36
Celera818,778,546 - 18,778,668RGD
Cytogenetic Map8p22UniSTS
HuRef818,355,687 - 18,355,809UniSTS
GDB:182360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,818,503 - 19,819,658UniSTSGRCh37
Build 36819,862,783 - 19,863,938RGDNCBI36
Celera818,781,592 - 18,782,745RGD
Cytogenetic Map8p22UniSTS
HuRef818,358,737 - 18,359,890UniSTS
GDB:189516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,819,607 - 19,819,747UniSTSGRCh37
Build 36819,863,887 - 19,864,027RGDNCBI36
Celera818,782,694 - 18,782,834RGD
Cytogenetic Map8p22UniSTS
HuRef818,359,839 - 18,359,979UniSTS
GDB:191079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,819,267 - 19,819,754UniSTSGRCh37
Build 36819,863,547 - 19,864,034RGDNCBI36
Celera818,782,354 - 18,782,841RGD
Cytogenetic Map8p22UniSTS
HuRef818,359,499 - 18,359,986UniSTS
GDB:212664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,815,452 - 19,815,572UniSTSGRCh37
Build 36819,859,732 - 19,859,852RGDNCBI36
Celera818,778,548 - 18,778,664RGD
Cytogenetic Map8p22UniSTS
HuRef818,355,689 - 18,355,805UniSTS
GDB:285016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,815,031 - 19,815,349UniSTSGRCh37
Build 36819,859,311 - 19,859,629RGDNCBI36
Celera818,778,127 - 18,778,445RGD
Cytogenetic Map8p22UniSTS
HuRef818,355,268 - 18,355,586UniSTS
GDB:623664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,796,245 - 19,796,808UniSTSGRCh37
Build 36819,840,525 - 19,841,088RGDNCBI36
Celera818,759,341 - 18,759,904RGD
Cytogenetic Map8p22UniSTS
HuRef818,336,483 - 18,337,046UniSTS
STS-M15856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,824,501 - 19,824,667UniSTSGRCh37
Build 36819,868,781 - 19,868,947RGDNCBI36
Celera818,787,589 - 18,787,755RGD
Cytogenetic Map8p22UniSTS
HuRef818,364,733 - 18,364,899UniSTS
GeneMap99-GB4 RH Map882.06UniSTS
LPL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,811,639 - 19,811,799UniSTSGRCh37
Build 36819,855,919 - 19,856,079RGDNCBI36
Celera818,774,735 - 18,774,895RGD
HuRef818,351,876 - 18,352,036UniSTS
LPL_4009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37819,823,980 - 19,824,786UniSTSGRCh37
Build 36819,868,260 - 19,869,066RGDNCBI36
Celera818,787,068 - 18,787,874RGD
HuRef818,364,212 - 18,365,018UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI21276447

Predicted Target Of
Summary Value
Count of predictions:2174
Count of miRNA genes:899
Interacting mature miRNAs:1063
Transcripts:ENST00000311322, ENST00000519773, ENST00000520959, ENST00000521994, ENST00000522701, ENST00000523696, ENST00000524029
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 13 2 92 7 2 181 2
Medium 1366 1380 596 99 144 10 2736 1974 2188 137 231 1149 91 1 1023 1931 3 2
Low 965 1254 855 263 894 189 1497 193 1500 240 1128 334 75 855 1
Below cutoff 21 337 254 248 415 250 16 9 19 8 49 52 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC100802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF050163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA485210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ083390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU557518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY448281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M76722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S58235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z46943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000519773   ⟹   ENSP00000431028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,939,256 - 19,948,303 (+)Ensembl
RefSeq Acc Id: ENST00000520959   ⟹   ENSP00000428496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,901,717 - 19,954,151 (+)Ensembl
RefSeq Acc Id: ENST00000521994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,939,256 - 19,951,828 (+)Ensembl
RefSeq Acc Id: ENST00000522701   ⟹   ENSP00000428557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,938,933 - 19,951,836 (+)Ensembl
RefSeq Acc Id: ENST00000523696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,939,372 - 19,948,485 (+)Ensembl
RefSeq Acc Id: ENST00000524029   ⟹   ENSP00000428237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,938,870 - 19,951,908 (+)Ensembl
RefSeq Acc Id: ENST00000650287   ⟹   ENSP00000497642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,939,253 - 19,967,259 (+)Ensembl
RefSeq Acc Id: ENST00000650478   ⟹   ENSP00000497560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl819,956,005 - 19,967,196 (+)Ensembl
RefSeq Acc Id: NM_000237   ⟹   NP_000228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,939,253 - 19,967,259 (+)NCBI
GRCh37819,796,582 - 19,824,770 (+)ENTREZGENE
Build 36819,840,862 - 19,869,050 (+)NCBI Archive
HuRef818,336,820 - 18,365,002 (+)ENTREZGENE
CHM1_1819,998,390 - 20,026,574 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000228   ⟸   NM_000237
- Peptide Label: precursor
- UniProtKB: P06858 (UniProtKB/Swiss-Prot),   A0A1B1RVA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431028   ⟸   ENST00000519773
RefSeq Acc Id: ENSP00000497560   ⟸   ENST00000650478
RefSeq Acc Id: ENSP00000497642   ⟸   ENST00000650287
RefSeq Acc Id: ENSP00000428496   ⟸   ENST00000520959
RefSeq Acc Id: ENSP00000428557   ⟸   ENST00000522701
RefSeq Acc Id: ENSP00000428237   ⟸   ENST00000524029
Protein Domains
Lipase   PLAT

Promoters
RGD ID:6806844
Promoter ID:HG_KWN:60843
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:OTTHUMT00000089113
Position:
Human AssemblyChrPosition (strand)Source
Build 36819,840,894 - 19,841,394 (+)MPROMDB
RGD ID:6852106
Promoter ID:EP73859
Type:multiple initiation site
Name:HS_LPL
Description:Lipoprotein lipase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36819,841,047 - 19,841,107EPD
RGD ID:7212747
Promoter ID:EPDNEW_H12119
Type:initiation region
Name:LPL_1
Description:lipoprotein lipase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38819,939,253 - 19,939,313EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000237.3(LPL):c.*1671T>C single nucleotide variant High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000033176]|Hyperlipoproteinemia, type I [RCV000353989] Chr8:19966981 [GRCh38]
Chr8:19824492 [GRCh37]
Chr8:8p21.3
association|benign
NM_000237.3(LPL):c.607G>A (p.Ala203Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001583] Chr8:19954185 [GRCh38]
Chr8:19811696 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, INS insertion Hyperlipoproteinemia, type I [RCV000001584] Chr8:8p22 pathogenic
nsv513798 duplication Hyperlipoproteinemia, type I [RCV000001585] Chr8:8p22 pathogenic
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV000763181]|Hyperlipidemia, familial combined, LPL related [RCV001248904]|Hyperlipoproteinemia, type I [RCV000001586]|not provided [RCV000521241] Chr8:19954222 [GRCh38]
Chr8:19811733 [GRCh37]
Chr8:8p21.3
pathogenic|uncertain significance
LPL, 6-KB DEL deletion Hyperlipoproteinemia, type I [RCV000001587] Chr8:8p22 pathogenic
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001588] Chr8:19951916 [GRCh38]
Chr8:19809427 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.811T>A (p.Ser271Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001589] Chr8:19955876 [GRCh38]
Chr8:19813387 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.250-1G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000001590] Chr8:19951768 [GRCh38]
Chr8:19809279 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001253353]|Hyperlipoproteinemia, type I [RCV000001591] Chr8:19954279 [GRCh38]
Chr8:19811790 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.693C>G (p.Asp231Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001592] Chr8:19954271 [GRCh38]
Chr8:19811782 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001248903]|Hyperlipoproteinemia, type I [RCV000001593] Chr8:19954240 [GRCh38]
Chr8:19811751 [GRCh37]
Chr8:8p21.3
pathogenic|uncertain significance
NM_000237.3(LPL):c.809G>A (p.Arg270His) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001248901]|Hyperlipoproteinemia, type I [RCV000001594]|not provided [RCV000497435] Chr8:19955874 [GRCh38]
Chr8:19813385 [GRCh37]
Chr8:8p21.3
pathogenic|uncertain significance
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001595] Chr8:19951819 [GRCh38]
Chr8:19809330 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.506G>A (p.Gly169Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001596] Chr8:19953386 [GRCh38]
Chr8:19810897 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.548A>G (p.Asp183Gly) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001597] Chr8:19954126 [GRCh38]
Chr8:19811637 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000385586]|LIPOPROTEIN LIPASE POLYMORPHISM [RCV000001598] Chr8:19962213 [GRCh38]
Chr8:19819724 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.249+1G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000001599]|not provided [RCV001236175] Chr8:19948341 [GRCh38]
Chr8:19805852 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001600] Chr8:19951783 [GRCh38]
Chr8:19809294 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001601] Chr8:19960988 [GRCh38]
Chr8:19818499 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.742del (p.Ala248fs) deletion Hyperlipoproteinemia, type I [RCV000001602]|Lpl-arita [RCV000001603] Chr8:19954320 [GRCh38]
Chr8:19811831 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001604]|not provided [RCV001059212] Chr8:19955894 [GRCh38]
Chr8:19813405 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001197456]|Hyperlipoproteinemia, type I [RCV000001605] Chr8:19951856 [GRCh38]
Chr8:19809367 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001606] Chr8:19951791 [GRCh38]
Chr8:19809302 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.88+1G>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000001607] Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001608] Chr8:19959322 [GRCh38]
Chr8:19816833 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.596C>G (p.Ser199Cys) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001609] Chr8:19954174 [GRCh38]
Chr8:19811685 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.306A>C (p.Arg102Ser) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001610] Chr8:19951825 [GRCh38]
Chr8:19809336 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.665G>A (p.Gly222Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001611] Chr8:19954243 [GRCh38]
Chr8:19811754 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.621C>G (p.Asp207Glu) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001612] Chr8:19954199 [GRCh38]
Chr8:19811710 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001613]|not provided [RCV001055155] Chr8:19955873 [GRCh38]
Chr8:19813384 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, -39T-C, PROMOTER single nucleotide variant Hyperlipidemia, familial combined, susceptibility to [RCV000001614] Chr8:8p22 pathogenic|risk factor
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV000001615]|Hyperlipidemia, familial combined, susceptibility to [RCV000781944]|Hyperlipoproteinemia, type I [RCV000988041] Chr8:19956018 [GRCh38]
Chr8:19813529 [GRCh37]
Chr8:8p21.3
pathogenic|risk factor|uncertain significance
NM_000237.3(LPL):c.1174C>G (p.Leu392Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001616] Chr8:19960935 [GRCh38]
Chr8:19818446 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) single nucleotide variant Coronary heart disease [RCV000157298]|Hyperlipidemia, familial combined, susceptibility to [RCV000001617]|Hyperlipoproteinemia, type I [RCV000352575]|not provided [RCV000733476]|not specified [RCV000454647] Chr8:19948197 [GRCh38]
Chr8:19805708 [GRCh37]
Chr8:8p21.3
pathogenic|risk factor|benign|likely benign|other
NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001618] Chr8:19962126 [GRCh38]
Chr8:19819637 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001619]|not provided [RCV001039273] Chr8:19954333 [GRCh38]
Chr8:19811844 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, -93T-G, PROMOTER single nucleotide variant Hyperlipidemia, familial combined, susceptibility to [RCV000001620] Chr8:8p22 pathogenic|risk factor
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001621]|LIPOPROTEIN LIPASE (OLBIA) [RCV000001622] Chr8:19956052 [GRCh38]
Chr8:19813563 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.798C>G (p.Cys266Trp) single nucleotide variant Hyperlipoproteinemia, type I [RCV000001623] Chr8:19955863 [GRCh38]
Chr8:19813374 [GRCh37]
Chr8:8p21.3
pathogenic
LPL, 1-BP DEL, CODON 172 deletion Hyperlipoproteinemia, type I [RCV000001624] Chr8:8p22 pathogenic
NM_000237.3(LPL):c.1323-187A>G single nucleotide variant High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000001625] Chr8:19961928 [GRCh38]
Chr8:19819439 [GRCh37]
Chr8:8p21.3
association
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_000237.3(LPL):c.*364A>C single nucleotide variant not provided [RCV000106287] Chr8:19965674 [GRCh38]
Chr8:19823185 [GRCh37]
Chr8:8p21.3
not provided
NM_000237.3(LPL):c.1306G>A (p.Gly436Arg) single nucleotide variant Hyperlipoproteinemia, type I [RCV000145429] Chr8:19961067 [GRCh38]
Chr8:19818578 [GRCh37]
Chr8:8p21.3
not provided
NM_000237.3(LPL):c.1302A>T (p.Lys434Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV000145433] Chr8:19961063 [GRCh38]
Chr8:19818574 [GRCh37]
Chr8:8p21.3
not provided
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p21.3(chr8:19864924-20015601)x1 copy number loss See cases [RCV000134935] Chr8:19864924..20015601 [GRCh38]
Chr8:19722435..19873112 [GRCh37]
Chr8:19766715..19917392 [NCBI36]
Chr8:8p21.3
likely benign
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
NM_000237.3(LPL):c.928T>C (p.Cys310Arg) single nucleotide variant Hyperlipoproteinemia, type I [RCV000258506] Chr8:19955993 [GRCh38]
Chr8:19813504 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV000258507] Chr8:19960948 [GRCh38]
Chr8:19818459 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000625872] Chr8:19955862 [GRCh38]
Chr8:19813373 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.678A>G (p.Pro226=) single nucleotide variant Hyperlipoproteinemia, type I [RCV000267552]|not provided [RCV000589102] Chr8:19954256 [GRCh38]
Chr8:19811767 [GRCh37]
Chr8:8p21.3
benign|uncertain significance
NM_000237.3(LPL):c.*1308G>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000302261] Chr8:19966618 [GRCh38]
Chr8:19824129 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.435G>A (p.Glu145=) single nucleotide variant Hyperlipoproteinemia, type I [RCV000302825]|not provided [RCV000587704] Chr8:19953315 [GRCh38]
Chr8:19810826 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*688G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000304405] Chr8:19965998 [GRCh38]
Chr8:19823509 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*371T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000347555] Chr8:19965681 [GRCh38]
Chr8:19823192 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*9G>A single nucleotide variant Dystrophin deficiency [RCV001275351]|Hyperlipoproteinemia, type I [RCV000372157]|not provided [RCV000589807] Chr8:19965319 [GRCh38]
Chr8:19822830 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1164C>A (p.Thr388=) single nucleotide variant Hyperlipoproteinemia, type I [RCV000271225] Chr8:19960925 [GRCh38]
Chr8:19818436 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1250A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000287008] Chr8:19966560 [GRCh38]
Chr8:19824071 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.-283G>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000288145] Chr8:19939158 [GRCh38]
Chr8:19796669 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-281T>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000326637] Chr8:19939160 [GRCh38]
Chr8:19796671 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.-71C>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000349263] Chr8:19939370 [GRCh38]
Chr8:19796881 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000328685]|not provided [RCV000586674] Chr8:19961040 [GRCh38]
Chr8:19818551 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1167C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000290645] Chr8:19966477 [GRCh38]
Chr8:19823988 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*448C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000307917] Chr8:19965758 [GRCh38]
Chr8:19823269 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*1846C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000329468] Chr8:19967156 [GRCh38]
Chr8:19824667 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.*1824T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000274354] Chr8:19967134 [GRCh38]
Chr8:19824645 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1142C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000330982] Chr8:19966452 [GRCh38]
Chr8:19823963 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1563_*1567del deletion Hyperlipoproteinemia, type I [RCV000402498] Chr8:19966873..19966877 [GRCh38]
Chr8:19824384..19824388 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1039G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000275863] Chr8:19966349 [GRCh38]
Chr8:19823860 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.405G>A (p.Val135=) single nucleotide variant Dystrophin deficiency [RCV001273359]|Hyperlipoproteinemia, type I [RCV000356200]|not provided [RCV000590676] Chr8:19951924 [GRCh38]
Chr8:19809435 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1224C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000381447] Chr8:19966534 [GRCh38]
Chr8:19824045 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.430-6C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000404936]|not provided [RCV000590669] Chr8:19953304 [GRCh38]
Chr8:19810815 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*853C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000260478] Chr8:19966163 [GRCh38]
Chr8:19823674 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1742T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000277765] Chr8:19967052 [GRCh38]
Chr8:19824563 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*796A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000359144] Chr8:19966106 [GRCh38]
Chr8:19823617 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1159C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000385544] Chr8:19966469 [GRCh38]
Chr8:19823980 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1291G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000407283] Chr8:19966601 [GRCh38]
Chr8:19824112 [GRCh37]
Chr8:8p21.3
benign|uncertain significance
NM_000237.3(LPL):c.*1783A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000314390] Chr8:19967093 [GRCh38]
Chr8:19824604 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1416T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000338425] Chr8:19966726 [GRCh38]
Chr8:19824237 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*949G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000389011] Chr8:19966259 [GRCh38]
Chr8:19823770 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*8C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000317564] Chr8:19965318 [GRCh38]
Chr8:19822829 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.786G>A (p.Gln262=) single nucleotide variant Hyperlipoproteinemia, type I [RCV000363410]|not provided [RCV000900433]|not specified [RCV000586149] Chr8:19955851 [GRCh38]
Chr8:19813362 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.*1848C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000364517] Chr8:19967158 [GRCh38]
Chr8:19824669 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.*1660G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000299090] Chr8:19966970 [GRCh38]
Chr8:19824481 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.333G>T (p.Val111=) single nucleotide variant Hyperlipoproteinemia, type I [RCV000299093] Chr8:19951852 [GRCh38]
Chr8:19809363 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*827A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000300463] Chr8:19966137 [GRCh38]
Chr8:19823648 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.*414_*418del deletion Hyperlipoproteinemia, type I [RCV000392893] Chr8:19965722..19965726 [GRCh38]
Chr8:19823233..19823237 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1416_1417insT (p.Lys473Ter) insertion Hyperlipoproteinemia, type I [RCV000262393] Chr8:19962208..19962209 [GRCh38]
Chr8:19819719..19819720 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*824dup duplication Hyperlipoproteinemia, type I [RCV000264407] Chr8:19966123..19966124 [GRCh38]
Chr8:19823634..19823635 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1214G>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000345574] Chr8:19966524 [GRCh38]
Chr8:19824035 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-299T>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000380234] Chr8:19939142 [GRCh38]
Chr8:19796653 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-136T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000292071] Chr8:19939305 [GRCh38]
Chr8:19796816 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*309A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000292798] Chr8:19965619 [GRCh38]
Chr8:19823130 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*884A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000315695] Chr8:19966194 [GRCh38]
Chr8:19823705 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-172_-171dup duplication Hyperlipoproteinemia, type I [RCV000383605] Chr8:19939265..19939266 [GRCh38]
Chr8:19796776..19796777 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.260T>C (p.Met87Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV000402506] Chr8:19951779 [GRCh38]
Chr8:19809290 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*677T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000404384] Chr8:19965987 [GRCh38]
Chr8:19823498 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-38C>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000295630] Chr8:19939403 [GRCh38]
Chr8:19796914 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*262G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000351257] Chr8:19965572 [GRCh38]
Chr8:19823083 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1806_*1807insTT insertion Hyperlipoproteinemia, type I [RCV000369035] Chr8:19967115..19967116 [GRCh38]
Chr8:19824626..19824627 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.*290_*293del deletion Hyperlipoproteinemia, type I [RCV000387033] Chr8:19965597..19965600 [GRCh38]
Chr8:19823108..19823111 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*222A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000296325] Chr8:19965532 [GRCh38]
Chr8:19823043 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*846G>C single nucleotide variant Hyperlipoproteinemia, type I [RCV000355328] Chr8:19966156 [GRCh38]
Chr8:19823667 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.-49C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV000392250] Chr8:19939392 [GRCh38]
Chr8:19796903 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1279G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV000341905] Chr8:19966589 [GRCh38]
Chr8:19824100 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.478C>T (p.Leu160Phe) single nucleotide variant Hyperlipoproteinemia, type I [RCV000359828] Chr8:19953358 [GRCh38]
Chr8:19810869 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*544A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV000344131] Chr8:19965854 [GRCh38]
Chr8:19823365 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.429+20A>C single nucleotide variant not provided [RCV000587120] Chr8:19951968 [GRCh38]
Chr8:19809479 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.89-10del deletion not provided [RCV000587541] Chr8:19948166 [GRCh38]
Chr8:19805677 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.213C>G (p.His71Gln) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272627]|not provided [RCV000588713] Chr8:19948304 [GRCh38]
Chr8:19805815 [GRCh37]
Chr8:8p21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) single nucleotide variant Hyperlipoproteinemia, type I [RCV001164213]|not provided [RCV000588862] Chr8:19959376 [GRCh38]
Chr8:19816887 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.1018+16T>C single nucleotide variant not provided [RCV000586872] Chr8:19956099 [GRCh38]
Chr8:19813610 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) single nucleotide variant Hyperlipoproteinemia, type I [RCV001164214]|not provided [RCV000589644] Chr8:19959377 [GRCh38]
Chr8:19816888 [GRCh37]
Chr8:8p21.3
benign|likely benign|uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
NM_000237.3(LPL):c.904T>C (p.Cys302Arg) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV000487457] Chr8:19955969 [GRCh38]
Chr8:19813480 [GRCh37]
Chr8:8p21.3
likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p21.3(chr8:19108471-19816839)x3 copy number gain See cases [RCV000511994] Chr8:19108471..19816839 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) single nucleotide variant Hyperlipoproteinemia, type I [RCV001250244]|Hypertriglyceridemia [RCV001248902]|not provided [RCV000627361] Chr8:19955849 [GRCh38]
Chr8:19813360 [GRCh37]
Chr8:8p21.3
pathogenic|likely pathogenic|uncertain significance
NM_000237.3(LPL):c.590G>A (p.Arg197His) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001249092]|Inborn genetic diseases [RCV000623537] Chr8:19954168 [GRCh38]
Chr8:19811679 [GRCh37]
Chr8:8p21.3
pathogenic|uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3 copy number gain not provided [RCV000683000] Chr8:19686384..20484203 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000237.3(LPL):c.290C>T (p.Ala97Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV001160569]|not provided [RCV000897052] Chr8:19951809 [GRCh38]
Chr8:19809320 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1421C>A (p.Ser474Ter) single nucleotide variant not provided [RCV000978630] Chr8:19962213 [GRCh38]
Chr8:19819724 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000237.3(LPL):c.*903C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001164320] Chr8:19966213 [GRCh38]
Chr8:19823724 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1891T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164440] Chr8:19967201 [GRCh38]
Chr8:19824712 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.835C>G (p.Leu279Val) single nucleotide variant not provided [RCV001060882] Chr8:19955900 [GRCh38]
Chr8:19813411 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.798C>T (p.Cys266=) single nucleotide variant not provided [RCV000891894] Chr8:19955863 [GRCh38]
Chr8:19813374 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1107C>T (p.Thr369=) single nucleotide variant not provided [RCV000975777] Chr8:19959348 [GRCh38]
Chr8:19816859 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.15C>T (p.Ala5=) single nucleotide variant not provided [RCV000941890] Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1140-7T>G single nucleotide variant not provided [RCV000928318] Chr8:19960894 [GRCh38]
Chr8:19818405 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1170C>T (p.Ser390=) single nucleotide variant not provided [RCV000944468] Chr8:19960931 [GRCh38]
Chr8:19818442 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.900G>A (p.Gly300=) single nucleotide variant not provided [RCV000927868] Chr8:19955965 [GRCh38]
Chr8:19813476 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1074C>T (p.Thr358=) single nucleotide variant not provided [RCV000982364] Chr8:19959315 [GRCh38]
Chr8:19816826 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.528C>G (p.Val176=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001162184]|not provided [RCV000924621] Chr8:19953408 [GRCh38]
Chr8:19810919 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.998G>A (p.Arg333His) single nucleotide variant Hyperlipoproteinemia, type I [RCV000778928] Chr8:19956063 [GRCh38]
Chr8:19813574 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1428-6del deletion not provided [RCV000942705] Chr8:19965300 [GRCh38]
Chr8:19822811 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.717T>C (p.Phe239=) single nucleotide variant not provided [RCV000941546] Chr8:19954295 [GRCh38]
Chr8:19811806 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.429+10G>A single nucleotide variant not provided [RCV000982359] Chr8:19951958 [GRCh38]
Chr8:19809469 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) single nucleotide variant Hyperlipoproteinemia, type I [RCV001164216]|not provided [RCV000944561] Chr8:19962117 [GRCh38]
Chr8:19819628 [GRCh37]
Chr8:8p21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000237.3(LPL):c.189C>T (p.Ser63=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159218]|not provided [RCV000943026] Chr8:19948280 [GRCh38]
Chr8:19805791 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1128C>T (p.Ile376=) single nucleotide variant not provided [RCV000922527] Chr8:19959369 [GRCh38]
Chr8:19816880 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.1019-6C>T single nucleotide variant not provided [RCV000979502] Chr8:19959254 [GRCh38]
Chr8:19816765 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.111C>T (p.Ile37=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272626]|not provided [RCV000979499] Chr8:19948202 [GRCh38]
Chr8:19805713 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.57C>A (p.Thr19=) single nucleotide variant not provided [RCV000979571] Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.1338T>C (p.Ser446=) single nucleotide variant not provided [RCV000975928] Chr8:19962130 [GRCh38]
Chr8:19819641 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.276G>A (p.Val92=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272628]|not provided [RCV000944208] Chr8:19951795 [GRCh38]
Chr8:19809306 [GRCh37]
Chr8:8p21.3
benign|uncertain significance
NM_000237.3(LPL):c.1368A>C (p.Gly456=) single nucleotide variant not provided [RCV000931921] Chr8:19962160 [GRCh38]
Chr8:19819671 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159216]|not provided [RCV000932549] Chr8:19948203 [GRCh38]
Chr8:19805714 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1146A>G (p.Glu382=) single nucleotide variant not provided [RCV000941301] Chr8:19960907 [GRCh38]
Chr8:19818418 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.89-9C>T single nucleotide variant not provided [RCV000916177] Chr8:19948171 [GRCh38]
Chr8:19805682 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.699C>T (p.Tyr233=) single nucleotide variant not provided [RCV000976571] Chr8:19954277 [GRCh38]
Chr8:19811788 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.345A>C (p.Ser115=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001160570]|not provided [RCV000893020] Chr8:19951864 [GRCh38]
Chr8:19809375 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000237.3(LPL):c.41G>A (p.Trp14Ter) single nucleotide variant not provided [RCV000796878] Chr8:19939481 [GRCh38]
Chr8:19796992 [GRCh37]
Chr8:8p21.3
pathogenic
GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1 copy number loss not provided [RCV000846804] Chr8:19604406..20174467 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) single nucleotide variant Hyperlipoproteinemia, type I [RCV001164215] Chr8:19960957 [GRCh38]
Chr8:19818468 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.519T>C (p.Asn173=) single nucleotide variant not provided [RCV000942604] Chr8:19953399 [GRCh38]
Chr8:19810910 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 copy number loss not provided [RCV000847806] Chr8:18266233..20864195 [GRCh37]
Chr8:8p22-21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:19731374-20266121)x3 copy number gain not provided [RCV000850024] Chr8:19731374..20266121 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.289_294delinsTTTGCCAAAA (p.Ala97fs) indel not provided [RCV001243163] Chr8:19951808..19951813 [GRCh38]
Chr8:19809319..19809324 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.94_98del (p.Arg32fs) deletion not provided [RCV001222007] Chr8:19948182..19948186 [GRCh38]
Chr8:19805693..19805697 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.640A>T (p.Arg214Ter) single nucleotide variant not provided [RCV001219282] Chr8:19954218 [GRCh38]
Chr8:19811729 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.*1928T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164441] Chr8:19967238 [GRCh38]
Chr8:19824749 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.81C>A (p.Ala27=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159215] Chr8:19939521 [GRCh38]
Chr8:19797032 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1373G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159401] Chr8:19966683 [GRCh38]
Chr8:19824194 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1399G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001160769] Chr8:19966709 [GRCh38]
Chr8:19824220 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1414C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001160770] Chr8:19966724 [GRCh38]
Chr8:19824235 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1547T>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001160771] Chr8:19966857 [GRCh38]
Chr8:19824368 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1048A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164321] Chr8:19966358 [GRCh38]
Chr8:19823869 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.346C>A (p.Arg116=) single nucleotide variant not provided [RCV000944391] Chr8:19951865 [GRCh38]
Chr8:19809376 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.456T>C (p.Asn152=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001160572]|not provided [RCV000894605] Chr8:19953336 [GRCh38]
Chr8:19810847 [GRCh37]
Chr8:8p21.3
benign|likely benign
NM_000237.3(LPL):c.542-8C>T single nucleotide variant not provided [RCV000931755] Chr8:19954112 [GRCh38]
Chr8:19811623 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.804C>T (p.His268=) single nucleotide variant not provided [RCV000928366] Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.2:c.-241G>C single nucleotide variant not provided [RCV000942138] Chr8:19939200 [GRCh38]
Chr8:19796711 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.59C>T (p.Ala20Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272625]|not provided [RCV000930734] Chr8:19939499 [GRCh38]
Chr8:19797010 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.687T>C (p.His229=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001162186]|not provided [RCV000918427] Chr8:19954265 [GRCh38]
Chr8:19811776 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.1344G>A (p.Glu448=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001273604]|not provided [RCV000983285] Chr8:19962136 [GRCh38]
Chr8:19819647 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.-101C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001164120] Chr8:19939340 [GRCh38]
Chr8:19796851 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.134C>A (p.Thr45Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159217] Chr8:19948225 [GRCh38]
Chr8:19805736 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.249G>A (p.Thr83=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159219] Chr8:19948340 [GRCh38]
Chr8:19805851 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1373C>T (p.Ala458Val) single nucleotide variant Hyperlipoproteinemia, type I [RCV001164217] Chr8:19962165 [GRCh38]
Chr8:19819676 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1854T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001164438] Chr8:19967164 [GRCh38]
Chr8:19824675 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1886G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001164439] Chr8:19967196 [GRCh38]
Chr8:19824707 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.836T>G (p.Leu279Arg) single nucleotide variant not provided [RCV001055591] Chr8:19955901 [GRCh38]
Chr8:19813412 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1272C>T (p.Pro424=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001272629]|not provided [RCV000914022] Chr8:19961033 [GRCh38]
Chr8:19818544 [GRCh37]
Chr8:8p21.3
likely benign|uncertain significance
NM_000237.3(LPL):c.828C>T (p.Ile276=) single nucleotide variant not provided [RCV000890967] Chr8:19955893 [GRCh38]
Chr8:19813404 [GRCh37]
Chr8:8p21.3
likely benign
GRCh37/hg19 8p21.3(chr8:19334399-19809695)x3 copy number gain not provided [RCV001006086] Chr8:19334399..19809695 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.439A>C (p.Asn147His) single nucleotide variant Hyperlipoproteinemia, type I [RCV001160571] Chr8:19953319 [GRCh38]
Chr8:19810830 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*547T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001160675] Chr8:19965857 [GRCh38]
Chr8:19823368 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*729A>G single nucleotide variant Hyperlipoproteinemia, type I [RCV001162287] Chr8:19966039 [GRCh38]
Chr8:19823550 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*831G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162288] Chr8:19966141 [GRCh38]
Chr8:19823652 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.501T>C (p.Ile167=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001162183] Chr8:19953381 [GRCh38]
Chr8:19810892 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1427+15C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159309] Chr8:19962234 [GRCh38]
Chr8:19819745 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*29G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159310] Chr8:19965339 [GRCh38]
Chr8:19822850 [GRCh37]
Chr8:8p21.3
benign
NM_000237.3(LPL):c.*135C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001159311] Chr8:19965445 [GRCh38]
Chr8:19822956 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*221C>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001159312] Chr8:19965531 [GRCh38]
Chr8:19823042 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1387T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001159402] Chr8:19966697 [GRCh38]
Chr8:19824208 [GRCh37]
Chr8:8p21.3
likely benign
NM_000237.3(LPL):c.*648A>T single nucleotide variant Hyperlipoproteinemia, type I [RCV001160676] Chr8:19965958 [GRCh38]
Chr8:19823469 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1394A>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001160768] Chr8:19966704 [GRCh38]
Chr8:19824215 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.648C>T (p.Ser216=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001162185] Chr8:19954226 [GRCh38]
Chr8:19811737 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1743G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162391] Chr8:19967053 [GRCh38]
Chr8:19824564 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1749T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001162392] Chr8:19967059 [GRCh38]
Chr8:19824570 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1788T>C single nucleotide variant Hyperlipoproteinemia, type I [RCV001162393] Chr8:19967098 [GRCh38]
Chr8:19824609 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1797G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162395] Chr8:19967107 [GRCh38]
Chr8:19824618 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1139+1G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001250243] Chr8:19959381 [GRCh38]
Chr8:19816892 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.36C>A (p.Ala12=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001159214] Chr8:19939476 [GRCh38]
Chr8:19796987 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) insertion Hyperlipoproteinemia, type I [RCV001250245] Chr8:19960921..19960922 [GRCh38]
Chr8:19818432..19818433 [GRCh37]
Chr8:8p21.3
likely pathogenic
NM_000237.3(LPL):c.*389C>G single nucleotide variant Hyperlipoproteinemia, type I [RCV001160673] Chr8:19965699 [GRCh38]
Chr8:19823210 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*455C>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001160674] Chr8:19965765 [GRCh38]
Chr8:19823276 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.*1793G>A single nucleotide variant Hyperlipoproteinemia, type I [RCV001162394] Chr8:19967103 [GRCh38]
Chr8:19824614 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) single nucleotide variant Hyperlipoproteinemia, type I [RCV001257912] Chr8:19955994 [GRCh38]
Chr8:19813505 [GRCh37]
Chr8:8p21.3
pathogenic
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) single nucleotide variant Inborn genetic diseases [RCV001266700] Chr8:19959292 [GRCh38]
Chr8:19816803 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.320A>G (p.Asn107Ser) single nucleotide variant not provided [RCV001256679] Chr8:19951839 [GRCh38]
Chr8:19809350 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.804C>G (p.His268Gln) single nucleotide variant Hyperlipidemia, familial combined, LPL related [RCV001262712] Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000237.3(LPL):c.1307G>A (p.Gly436Glu) single nucleotide variant Inborn genetic diseases [RCV001267601] Chr8:19961068 [GRCh38]
Chr8:19818579 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.313G>A (p.Asp105Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279448] Chr8:19951832 [GRCh38]
Chr8:19809343 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279449] Chr8:19960968 [GRCh38]
Chr8:19818479 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279450] Chr8:19960995 [GRCh38]
Chr8:19818506 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_000237.3(LPL):c.84C>G (p.Ala28=) single nucleotide variant Hyperlipoproteinemia, type I [RCV001279447] Chr8:19939524 [GRCh38]
Chr8:19797035 [GRCh37]
Chr8:8p21.3
uncertain significance