LRP5 (LDL receptor related protein 5) - Rat Genome Database
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Gene: LRP5 (LDL receptor related protein 5) Homo sapiens
Analyze
Symbol: LRP5
Name: LDL receptor related protein 5
RGD ID: 1319617
HGNC Page HGNC
Description: Exhibits Wnt-activated receptor activity; Wnt-protein binding activity; and coreceptor activity involved in Wnt signaling pathway. Involved in several processes, including animal organ development; cell surface receptor signaling pathway involved in cell-cell signaling; and cholesterol homeostasis. Localizes to plasma membrane and receptor complex. Implicated in autosomal dominant polycystic kidney disease; bone remodeling disease (multiple); eye disease (multiple); osteoporosis-pseudoglioma syndrome; and polycystic liver disease. Biomarker of heart valve disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMND1; EVR1; EVR4; HBM; low density lipoprotein receptor-related protein 5; low density lipoprotein receptor-related protein 7; low-density lipoprotein receptor-related protein 5; LR3; LRP-5; LRP-7; LRP7; OPPG; OPS; OPTA1; PCLD4; VBCH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LRP5L  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1168,312,591 - 68,449,275 (+)EnsemblGRCh38hg38GRCh38
GRCh381168,298,866 - 68,449,275 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371168,080,059 - 68,216,743 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371168,080,077 - 68,216,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,836,684 - 67,973,319 (+)NCBINCBI36hg18NCBI36
Build 341167,836,710 - 67,973,317NCBI
Celera1165,414,949 - 65,552,023 (+)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1164,450,891 - 64,552,653 (+)NCBIHuRef
CHM1_11167,964,539 - 68,100,925 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
amiodarone  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (ISO)
carbon nanotube  (EXP)
casticin  (EXP)
chlorohydrocarbon  (ISO)
chromium(3+) trichloride  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dicrotophos  (EXP)
dioscin  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
flavonoids  (ISO)
formaldehyde  (EXP)
fulvestrant  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
lovastatin  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (ISO)
methyltestosterone  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
p-toluidine  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenobarbital  (ISO)
phenol  (EXP)
pirinixic acid  (EXP)
Pristimerin  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
Tanshinone I  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adipose tissue development  (IBA,IMP)
anatomical structure regression  (IEA,ISO)
anterior/posterior pattern specification  (IBA,ISO)
apoptotic process involved in blood vessel morphogenesis  (IEA,ISO)
bone development  (ISO)
bone marrow development  (IBA,IMP)
bone morphogenesis  (IBA,IMP)
bone remodeling  (IBA,ISO)
branching involved in mammary gland duct morphogenesis  (IBA,ISO)
canonical Wnt signaling pathway  (IDA,IGI,IMP,ISO)
cell migration involved in gastrulation  (IEA,ISO)
cell-cell signaling involved in mammary gland development  (IEA,ISO)
cholesterol homeostasis  (IBA,IMP)
cholesterol metabolic process  (IEA,ISO)
embryonic digit morphogenesis  (IEA,ISO)
endocytosis  (IEA)
extracellular matrix-cell signaling  (IEA,ISO)
gastrulation with mouth forming second  (IBA,ISO)
glucose catabolic process  (IMP)
limb morphogenesis  (ISO)
mammary gland duct morphogenesis  (ISO)
negative regulation of osteoblast differentiation  (IMP)
negative regulation of protein serine/threonine kinase activity  (IMP)
Norrin signaling pathway  (IDA,ISO)
osteoblast development  (IBA,ISO)
positive regulation of cell population proliferation  (IDA)
positive regulation of DNA-binding transcription factor activity  (IEA,ISO)
positive regulation of fat cell differentiation  (IMP)
positive regulation of mesenchymal cell proliferation  (IMP)
positive regulation of mitotic nuclear division  (IDA)
positive regulation of osteoblast differentiation  (ISO,ISS)
positive regulation of osteoblast proliferation  (IEA,ISO)
positive regulation of skeletal muscle acetylcholine-gated channel clustering  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA)
positive regulation of transcription, DNA-templated  (IDA,ISO)
regulation of apoptotic process  (IEA,ISO)
regulation of blood pressure  (IMP)
regulation of insulin secretion involved in cellular response to glucose stimulus  (IBA,ISO)
response to peptide hormone  (IEA,ISO)
response to radiation  (IEA,ISO)
retina morphogenesis in camera-type eye  (IMP)
retina vasculature morphogenesis in camera-type eye  (ISO)
retinal blood vessel morphogenesis  (IBA,IMP,ISO)
somatic stem cell population maintenance  (IEA,ISO)
toxin transport  (IEA)
vasculature development  (ISO)

Cellular Component

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

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal femoral neck/head morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of the pancreas  (IAGP)
Abnormality of the ribs  (IAGP)
Abnormality of the vertebral column  (IAGP)
Absent anterior chamber of the eye  (IAGP)
Angle closure glaucoma  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Back pain  (IAGP)
Barrel-shaped chest  (IAGP)
Blindness  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Broad forehead  (IAGP)
Broad jaw  (IAGP)
Cataract  (IAGP)
Clavicular sclerosis  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital blindness  (IAGP)
Congenital nystagmus  (IAGP)
Corneal opacity  (IAGP)
Cranial hyperostosis  (IAGP)
Craniofacial hyperostosis  (IAGP)
Craniosynostosis  (IAGP)
Crumpled long bones  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Diaphyseal thickening  (IAGP)
Exudative retinopathy  (IAGP)
Exudative vitreoretinopathy  (IAGP)
Facial palsy  (IAGP)
Falciform retinal fold  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat forehead  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized hypotonia  (IAGP)
Generalized osteosclerosis  (IAGP)
Glioma  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hepatic cysts  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
High forehead  (IAGP)
Horizontal pendular nystagmus  (IAGP)
Hyperostosis  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Incomplete penetrance  (IAGP)
Increased bone mineral density  (IAGP)
Increased intracranial pressure  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased total bilirubin  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability, mild  (IAGP)
Iris atrophy  (IAGP)
Isosexual precocious puberty  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Kyphoscoliosis  (IAGP)
Loss of ability to walk  (IAGP)
Low serum calcitriol  (IAGP)
Macrocephaly  (IAGP)
Mandibular prognathia  (IAGP)
Metacarpal diaphyseal endosteal sclerosis  (IAGP)
Metaphyseal widening  (IAGP)
Metatarsal diaphyseal endosteal sclerosis  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Mild global developmental delay  (IAGP)
Moderately reduced visual acuity  (IAGP)
Multiple renal cysts  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Osteopenia  (IAGP)
Osteopetrosis  (IAGP)
Osteoporosis  (IAGP)
Pathologic fracture  (IAGP)
Peripheral retinal avascularization  (IAGP)
Phthisis bulbi  (IAGP)
Platyspondyly  (IAGP)
Polycystic liver disease  (IAGP)
Posterior vitreous detachment  (IAGP)
Preauricular skin tag  (IAGP)
Premature birth  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced visual acuity  (IAGP)
Renal cyst  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retinal detachment  (IAGP)
Retinal exudate  (IAGP)
Retinal neovascularization  (IAGP)
Sclerotic vertebral body  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Short stature  (IAGP)
Slow progression  (IAGP)
Small for gestational age  (IAGP)
Subcapsular cataract  (IAGP)
Thickened calvaria  (IAGP)
Thickened cortex of long bones  (IAGP)
Torus palatinus  (IAGP)
Tractional retinal detachment  (IAGP)
Vascular dilatation  (IAGP)
Ventricular septal defect  (IAGP)
Visual acuity light perception with projection  (IAGP)
Visual impairment  (IAGP)
Vitreoretinopathy  (IAGP)
Vitreous hemorrhage  (IAGP)
Waddling gait  (IAGP)
Wormian bones  (IAGP)
References

References - curated
1. Caira FC, etal., J Am Coll Cardiol. 2006 Apr 18;47(8):1707-12. Epub 2006 Mar 20.
2. Cheung WM, etal., Bone. 2006 Sep;39(3):470-6. Epub 2006 May 6.
3. Cnossen WR, etal., Eur J Hum Genet. 2016 Feb;24(2):237-42. doi: 10.1038/ejhg.2015.86. Epub 2015 Apr 29.
4. Cnossen WR, etal., Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5343-8. doi: 10.1073/pnas.1309438111. Epub 2014 Mar 24.
5. Ergun SG, etal., Eur J Med Genet. 2017 Mar;60(3):200-204. doi: 10.1016/j.ejmg.2017.01.007. Epub 2017 Jan 19.
6. GOA_HUMAN data from the GO Consortium
7. Gong Y, etal., Cell. 2001 Nov 16;107(4):513-23.
8. Jacobsen CM, etal., J Bone Miner Res. 2014 Oct;29(10):2297-306. doi: 10.1002/jbmr.2198.
9. Jiang Y, etal., Exp Biol Med (Maywood). 2014 Mar;239(3):347-55. doi: 10.1177/1535370213519215. Epub 2014 Feb 7.
10. Jiao X, etal., Am J Hum Genet. 2004 Nov;75(5):878-84. Epub 2004 Sep 2.
11. Klaus A and Birchmeier W, Nat Rev Cancer. 2008 May;8(5):387-98.
12. Korvala J, etal., BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.
13. Liu MJ, etal., J Tradit Chin Med. 2011 Jun;31(2):98-102.
14. Lui PP, etal., Rheumatology (Oxford). 2013 Sep;52(9):1609-18. doi: 10.1093/rheumatology/ket214. Epub 2013 Jun 17.
15. Niziolek PJ, etal., PLoS One. 2015 Nov 10;10(11):e0140775. doi: 10.1371/journal.pone.0140775. eCollection 2015.
16. OMIM Disease Annotation Pipeline
17. Pipeline to import KEGG annotations from KEGG into RGD
18. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Sun L, etal., J Spinal Cord Med. 2013 Nov;36(6):616-22. doi: 10.1179/2045772312Y.0000000020. Epub 2013 Feb 20.
23. Urano T, etal., Spine (Phila Pa 1976). 2007 Jan 1;32(1):25-9.
24. Van Wesenbeeck L, etal., Am J Hum Genet. 2003 Mar;72(3):763-71. Epub 2003 Feb 10.
25. Wang Z, etal., Mol Cell Biol. 2005 Jun;25(12):5022-30.
26. Xiong DH, etal., J Bone Miner Res. 2006 Nov;21(11):1678-95.
27. Zhou J, etal., Arch Med Res. 2012 May;43(4):274-82. doi: 10.1016/j.arcmed.2012.06.002. Epub 2012 Jun 13.
Additional References at PubMed
PMID:7775583   PMID:8659519   PMID:9199553   PMID:9714764   PMID:9790987   PMID:9831343   PMID:10049586   PMID:11029007   PMID:11336703   PMID:11401438   PMID:11433302   PMID:11448771  
PMID:11516963   PMID:11741193   PMID:11793484   PMID:12015390   PMID:12054167   PMID:12121999   PMID:12477932   PMID:12509515   PMID:12581525   PMID:12700977   PMID:12817748   PMID:12857724  
PMID:14727154   PMID:14731402   PMID:14735475   PMID:15024691   PMID:15035989   PMID:15077203   PMID:15084453   PMID:15201508   PMID:15221492   PMID:15231748   PMID:15355556   PMID:15619672  
PMID:15777745   PMID:15781005   PMID:15824851   PMID:15824861   PMID:15908424   PMID:15923613   PMID:15979013   PMID:15981244   PMID:16115379   PMID:16168727   PMID:16234968   PMID:16355283  
PMID:16513652   PMID:16613987   PMID:16622736   PMID:16723389   PMID:16754270   PMID:16772034   PMID:16805831   PMID:16956801   PMID:16958596   PMID:17002572   PMID:17052975   PMID:17086708  
PMID:17087607   PMID:17137849   PMID:17223614   PMID:17229572   PMID:17241106   PMID:17276019   PMID:17306638   PMID:17307038   PMID:17505772   PMID:17680723   PMID:17700537   PMID:17953969  
PMID:17955262   PMID:17972053   PMID:18026682   PMID:18044981   PMID:18058054   PMID:18073493   PMID:18285546   PMID:18349089   PMID:18350154   PMID:18406176   PMID:18418639   PMID:18455228  
PMID:18493104   PMID:18502762   PMID:18521528   PMID:18524778   PMID:18588671   PMID:18632848   PMID:18676680   PMID:18684085   PMID:18721193   PMID:18762581   PMID:18825883   PMID:18932002  
PMID:19023643   PMID:19107203   PMID:19147944   PMID:19148563   PMID:19158955   PMID:19170196   PMID:19177549   PMID:19225709   PMID:19233690   PMID:19336475   PMID:19453261   PMID:19506792  
PMID:19571442   PMID:19625176   PMID:19629617   PMID:19673927   PMID:19692168   PMID:19746449   PMID:19789208   PMID:19801982   PMID:19810105   PMID:19851296   PMID:19898734   PMID:19913121  
PMID:19948975   PMID:20034086   PMID:20045498   PMID:20093360   PMID:20101398   PMID:20141633   PMID:20146170   PMID:20198315   PMID:20200960   PMID:20200978   PMID:20301326   PMID:20340138  
PMID:20393562   PMID:20534768   PMID:20554715   PMID:20613673   PMID:20628086   PMID:20630166   PMID:20846389   PMID:20926594   PMID:20953208   PMID:20960157   PMID:20961463   PMID:21116122  
PMID:21147715   PMID:21351148   PMID:21397183   PMID:21407258   PMID:21432225   PMID:21471202   PMID:21471826   PMID:21528003   PMID:21542013   PMID:21774378   PMID:21821287   PMID:21840657  
PMID:21873635   PMID:21885484   PMID:21887268   PMID:22000856   PMID:22167346   PMID:22199357   PMID:22207519   PMID:22303459   PMID:22504420   PMID:22513174   PMID:22589387   PMID:22696217  
PMID:22848540   PMID:22988876   PMID:23041840   PMID:23054017   PMID:23077402   PMID:23238007   PMID:23242660   PMID:23318847   PMID:23441120   PMID:23490293   PMID:23800666   PMID:24115276  
PMID:24130145   PMID:24249740   PMID:24266894   PMID:24337955   PMID:24376863   PMID:24403228   PMID:24412065   PMID:24431302   PMID:24479426   PMID:24606091   PMID:24715757   PMID:24736728  
PMID:24743782   PMID:24885293   PMID:24897288   PMID:24921217   PMID:24927689   PMID:24945404   PMID:25329009   PMID:25384351   PMID:25392953   PMID:25515155   PMID:25580429   PMID:25651180  
PMID:25762437   PMID:25783012   PMID:25863010   PMID:25902418   PMID:25945592   PMID:25959626   PMID:26117992   PMID:26186194   PMID:26244290   PMID:26248735   PMID:26666179   PMID:26681532  
PMID:26711269   PMID:26739212   PMID:26774446   PMID:27007396   PMID:27051030   PMID:27228167   PMID:27486893   PMID:27582019   PMID:27609421   PMID:27821587   PMID:28028632   PMID:28067456  
PMID:28139941   PMID:28145787   PMID:28283687   PMID:28420620   PMID:28425175   PMID:28494495   PMID:28514442   PMID:28611215   PMID:28677207   PMID:28867931   PMID:28893644   PMID:28966723  
PMID:28973524   PMID:29038835   PMID:29117863   PMID:29131652   PMID:29181528   PMID:29207047   PMID:29208525   PMID:29507755   PMID:29594386   PMID:29963786   PMID:30019084   PMID:30097784  
PMID:30304114   PMID:30305727   PMID:30361437   PMID:30404864   PMID:30474181   PMID:30499050   PMID:30513533   PMID:30866603   PMID:31077665   PMID:31237656   PMID:31262711   PMID:31405647  
PMID:31774873   PMID:31881970   PMID:31957814  


Genomics

Candidate Gene Status
LRP5 is a candidate Gene for QTL BMD9_H
Comparative Map Data
LRP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1168,312,591 - 68,449,275 (+)EnsemblGRCh38hg38GRCh38
GRCh381168,298,866 - 68,449,275 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371168,080,059 - 68,216,743 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371168,080,077 - 68,216,743 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,836,684 - 67,973,319 (+)NCBINCBI36hg18NCBI36
Build 341167,836,710 - 67,973,317NCBI
Celera1165,414,949 - 65,552,023 (+)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1164,450,891 - 64,552,653 (+)NCBIHuRef
CHM1_11167,964,539 - 68,100,925 (+)NCBICHM1_1
Lrp5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,634,825 - 3,736,574 (-)NCBIGRCm39mm39
GRCm38193,584,825 - 3,686,585 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,584,828 - 3,686,564 (-)EnsemblGRCm38mm10GRCm38
MGSCv37193,584,825 - 3,686,564 (-)NCBIGRCm37mm9NCBIm37
MGSCv36193,584,869 - 3,686,554 (-)NCBImm8
Celera193,456,985 - 3,596,074 (-)NCBICelera
Cytogenetic Map19ANCBI
Lrp5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21200,814,247 - 200,917,581 (-)NCBI
Rnor_6.0 Ensembl1218,816,841 - 218,920,094 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01218,816,833 - 218,920,147 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01225,689,353 - 225,793,075 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41206,102,750 - 206,206,350 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11206,256,235 - 206,359,808 (-)NCBI
Celera1198,369,819 - 198,473,093 (-)NCBICelera
Cytogenetic Map1q42-q43NCBI
Lrp5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542217,394,371 - 17,505,763 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542217,394,371 - 17,475,244 (-)NCBIChiLan1.0ChiLan1.0
LRP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11166,794,645 - 66,840,019 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1166,735,246 - 66,839,817 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01163,396,511 - 63,534,471 (+)NCBIMhudiblu_PPA_v0panPan3
LRP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1849,439,483 - 49,516,396 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11849,439,494 - 49,555,375 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Lrp5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365991,746,309 - 1,814,471 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl24,533,593 - 4,653,945 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.124,533,721 - 4,653,997 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.223,168,598 - 3,216,170 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRP5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.116,090,048 - 6,224,956 (-)NCBI
ChlSab1.1 Ensembl16,089,930 - 6,190,383 (-)Ensembl
Lrp5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476718,438,165 - 18,551,362 (-)NCBI

Position Markers
D11S987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,893,340 - 67,893,449UniSTSGRCh37
Celera1165,227,362 - 65,227,471UniSTS
HuRef1164,228,670 - 64,228,775UniSTS
Marshfield Genetic Map1167.48RGD
D11S4178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,189,108 - 68,189,359UniSTSGRCh37
Build 361167,945,684 - 67,945,935RGDNCBI36
Celera1165,523,891 - 65,524,142RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,524,679 - 64,524,930UniSTS
Marshfield Genetic Map1167.48UniSTS
Marshfield Genetic Map1167.48RGD
Genethon Genetic Map1171.5UniSTS
deCODE Assembly Map1172.41UniSTS
D11S1337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,131,658 - 68,131,941UniSTSGRCh37
Build 361167,888,234 - 67,888,517RGDNCBI36
Celera1165,466,504 - 65,466,797RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,467,217 - 64,467,500UniSTS
Marshfield Genetic Map1168.55RGD
Marshfield Genetic Map1168.55UniSTS
Genethon Genetic Map1172.1UniSTS
deCODE Assembly Map1172.41UniSTS
GeneMap99-GB4 RH Map11259.92UniSTS
Whitehead-RH Map11364.1UniSTS
D11S4087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,099,158 - 68,099,322UniSTSGRCh37
Build 361167,855,734 - 67,855,898RGDNCBI36
Celera1165,433,997 - 65,434,157RGD
Cytogenetic Map11q13.4UniSTS
HuRef310,524,165 - 10,525,591UniSTS
Marshfield Genetic Map1168.55UniSTS
Marshfield Genetic Map1168.55RGD
Genethon Genetic Map1172.2UniSTS
deCODE Assembly Map1172.4UniSTS
RH12415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,216,368 - 68,216,587UniSTSGRCh37
Build 361167,972,944 - 67,973,163RGDNCBI36
Celera1165,551,648 - 65,551,867RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,552,278 - 64,552,497UniSTS
GeneMap99-GB4 RH Map11261.76UniSTS
NCBI RH Map11597.0UniSTS
D11S970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,940,725 - 152,941,082UniSTSGRCh37
GRCh371168,201,786 - 68,201,947UniSTSGRCh37
Build 36X152,593,919 - 152,594,276RGDNCBI36
CeleraX153,174,409 - 153,174,766RGD
Celera1165,537,075 - 65,537,232UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic MapXq28UniSTS
HuRef1164,537,865 - 64,538,022UniSTS
AFM289ya9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,131,670 - 68,132,015UniSTSGRCh37
Build 361167,888,246 - 67,888,591RGDNCBI36
Celera1165,466,516 - 65,466,871RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,467,229 - 64,467,574UniSTS
TNG Radiation Hybrid Map1130085.0UniSTS
G60523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,099,077 - 68,099,289UniSTSGRCh37
Build 361167,855,653 - 67,855,865RGDNCBI36
Celera1165,433,916 - 65,434,124RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,434,766 - 64,434,974UniSTS
TNG Radiation Hybrid Map1130107.0UniSTS
D11S3666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,084,249 - 68,084,357UniSTSGRCh37
Build 361167,840,825 - 67,840,933RGDNCBI36
Celera1165,419,090 - 65,419,198RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,419,941 - 64,420,049UniSTS
SHGC-144578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,178,637 - 68,178,912UniSTSGRCh37
Build 361167,935,213 - 67,935,488RGDNCBI36
Celera1165,513,728 - 65,514,003RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,514,472 - 64,514,747UniSTS
TNG Radiation Hybrid Map1130068.0UniSTS
LRP5_7818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,216,331 - 68,216,751UniSTSGRCh37
Build 361167,972,907 - 67,973,327RGDNCBI36
Celera1165,551,611 - 65,552,031RGD
HuRef1164,552,241 - 64,552,661UniSTS
RH11806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371168,216,360 - 68,216,497UniSTSGRCh37
Build 361167,972,936 - 67,973,073RGDNCBI36
Celera1165,551,640 - 65,551,777RGD
Cytogenetic Map11q13.4UniSTS
HuRef1164,552,270 - 64,552,407UniSTS
GeneMap99-GB4 RH Map11259.92UniSTS
D11S987  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11p13UniSTS
Marshfield Genetic Map1167.48UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3116
Count of miRNA genes:1048
Interacting mature miRNAs:1297
Transcripts:ENST00000294304, ENST00000528714, ENST00000528890, ENST00000529481, ENST00000529702, ENST00000529993, ENST00000533695
Prediction methods:Miranda, Rnahybrid
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 1 1
Medium 2420 2035 1667 610 700 454 3586 1271 1040 364 1127 1595 169 1202 2039 4
Low 18 378 55 12 617 10 770 923 2662 54 333 16 6 1 2 749 2 1
Below cutoff 1 577 2 614 1 2 29 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA279383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA953315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB017498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI583742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN999254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY436586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY436587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY436588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF459052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000294304   ⟹   ENSP00000294304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,312,591 - 68,449,275 (+)Ensembl
RefSeq Acc Id: ENST00000528714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,410,029 - 68,413,195 (+)Ensembl
RefSeq Acc Id: ENST00000528890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,403,977 - 68,406,547 (+)Ensembl
RefSeq Acc Id: ENST00000529481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,446,981 - 68,449,182 (+)Ensembl
RefSeq Acc Id: ENST00000529702   ⟹   ENSP00000435315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,439,873 - 68,449,138 (+)Ensembl
RefSeq Acc Id: ENST00000529993   ⟹   ENSP00000436652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,312,684 - 68,449,272 (+)Ensembl
RefSeq Acc Id: ENST00000533695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1168,438,593 - 68,439,953 (+)Ensembl
RefSeq Acc Id: NM_001291902   ⟹   NP_001278831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,312,591 - 68,449,275 (+)NCBI
CHM1_11167,964,539 - 68,100,925 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002335   ⟹   NP_002326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,312,591 - 68,449,275 (+)NCBI
GRCh371168,080,077 - 68,216,743 (+)NCBI
Build 361167,836,684 - 67,973,319 (+)NCBI Archive
HuRef1164,450,891 - 64,552,653 (+)ENTREZGENE
CHM1_11167,964,539 - 68,100,925 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273994   ⟹   XP_005274051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,312,614 - 68,449,275 (+)NCBI
GRCh371168,080,077 - 68,216,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545029   ⟹   XP_011543331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,298,866 - 68,449,275 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545030   ⟹   XP_011543332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,298,866 - 68,449,275 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545031   ⟹   XP_011543333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,298,866 - 68,449,272 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017735   ⟹   XP_016873224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,404,294 - 68,449,275 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017736   ⟹   XP_016873225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,413,096 - 68,449,275 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001747874
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,298,866 - 68,413,781 (+)NCBI
Sequence:
RefSeq Acc Id: XR_949925
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,298,866 - 68,449,163 (+)NCBI
Sequence:
RefSeq Acc Id: XR_949926
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,298,866 - 68,449,163 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002326   ⟸   NM_002335
- Peptide Label: isoform 1 precursor
- UniProtKB: O75197 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274051   ⟸   XM_005273994
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001278831   ⟸   NM_001291902
- Peptide Label: isoform 2
- UniProtKB: O75197 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543331   ⟸   XM_011545029
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543332   ⟸   XM_011545030
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543333   ⟸   XM_011545031
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016873224   ⟸   XM_017017735
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016873225   ⟸   XM_017017736
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000294304   ⟸   ENST00000294304
RefSeq Acc Id: ENSP00000435315   ⟸   ENST00000529702
RefSeq Acc Id: ENSP00000436652   ⟸   ENST00000529993
Protein Domains
EGF-like   LDL-receptor class A

Promoters
RGD ID:6789072
Promoter ID:HG_KWN:13517
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002335,   UC009YSG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361167,836,559 - 67,837,059 (+)MPROMDB
RGD ID:7221325
Promoter ID:EPDNEW_H16407
Type:initiation region
Name:LRP5_1
Description:LDL receptor related protein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16408  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,312,591 - 68,312,651EPDNEW
RGD ID:7221323
Promoter ID:EPDNEW_H16408
Type:initiation region
Name:LRP5_2
Description:LDL receptor related protein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16407  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381168,312,746 - 68,312,806EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002335.4(LRP5):c.1027G>A (p.Val343Met) single nucleotide variant not specified [RCV000521616] Chr11:68386327 [GRCh38]
Chr11:68153795 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) single nucleotide variant Osteoporosis with pseudoglioma [RCV000033257] Chr11:68403553 [GRCh38]
Chr11:68171021 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) single nucleotide variant Osteoporosis with pseudoglioma [RCV000033258] Chr11:68386445 [GRCh38]
Chr11:68153913 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) single nucleotide variant Osteoporosis with pseudoglioma [RCV000033259] Chr11:68363791 [GRCh38]
Chr11:68131259 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) single nucleotide variant Osteoporosis with pseudoglioma [RCV000033260] Chr11:68448822 [GRCh38]
Chr11:68216290 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1584+1G>A single nucleotide variant Osteoporosis with pseudoglioma [RCV000033261] Chr11:68390053 [GRCh38]
Chr11:68157521 [GRCh37]
Chr11:11q13.2
pathogenic
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del deletion Osteoporosis with pseudoglioma [RCV000033262] Chr11:67967551..67974756 [NCBI36]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4000+9C>T single nucleotide variant Postmenopausal osteoporosis [RCV000030153]|not provided [RCV000949971]|not specified [RCV000175300] Chr11:68433847 [GRCh38]
Chr11:68201315 [GRCh37]
Chr11:11q13.2
benign|likely benign|uncertain significance
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) single nucleotide variant Postmenopausal osteoporosis [RCV000030154]|not provided [RCV000879765] Chr11:68448857 [GRCh38]
Chr11:68216325 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006646] Chr11:68312743 [GRCh38]
Chr11:68080211 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006647] Chr11:68386582 [GRCh38]
Chr11:68154050 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1468del (p.Asp490fs) deletion Osteoporosis with pseudoglioma [RCV000006648] Chr11:68389935 [GRCh38]
Chr11:68157403 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) duplication Osteoporosis with pseudoglioma [RCV000006649] Chr11:68409971..68409972 [GRCh38]
Chr11:68177439..68177440 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006650] Chr11:68413742 [GRCh38]
Chr11:68181210 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) deletion Osteoporosis with pseudoglioma [RCV000006651] Chr11:68433642 [GRCh38]
Chr11:68201110 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006652]|not provided [RCV000414333] Chr11:68389949 [GRCh38]
Chr11:68157417 [GRCh37]
Chr11:11q13.2
pathogenic|likely pathogenic
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006653] Chr11:68403606 [GRCh38]
Chr11:68171074 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006654]|not provided [RCV000086953]|not specified [RCV000250939] Chr11:68406721 [GRCh38]
Chr11:68174189 [GRCh37]
Chr11:11q13.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006655] Chr11:68389921 [GRCh38]
Chr11:68157389 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) single nucleotide variant Osteoporosis with pseudoglioma [RCV000006656] Chr11:68410024 [GRCh38]
Chr11:68177492 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.2305del (p.Asp769fs) deletion Osteoporosis with pseudoglioma [RCV000006657] Chr11:68410126 [GRCh38]
Chr11:68177594 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.512G>T (p.Gly171Val) single nucleotide variant High bone mass [RCV000006658] Chr11:68357673 [GRCh38]
Chr11:68125141 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.511G>C (p.Gly171Arg) single nucleotide variant Autosomal dominant osteopetrosis 1 [RCV000006659] Chr11:68357672 [GRCh38]
Chr11:68125140 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) single nucleotide variant Autosomal dominant osteopetrosis 1 [RCV000006661]|Van Buchem disease type 2 [RCV000186217]|Worth disease [RCV000006660]|not provided [RCV000383760] Chr11:68363784 [GRCh38]
Chr11:68131252 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.640G>A (p.Ala214Thr) single nucleotide variant Autosomal dominant osteopetrosis 1 [RCV000786921]|Worth disease [RCV000006663] Chr11:68357801 [GRCh38]
Chr11:68125269 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.641C>T (p.Ala214Val) single nucleotide variant Worth disease [RCV000006664] Chr11:68357802 [GRCh38]
Chr11:68125270 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.758C>T (p.Thr253Ile) single nucleotide variant Autosomal dominant osteopetrosis 1 [RCV000006665] Chr11:68363818 [GRCh38]
Chr11:68131286 [GRCh37]
Chr11:11q13.2
pathogenic
LRP5, 2220C-T single nucleotide variant Bone mineral density quantitative trait locus 1 [RCV000006666] Chr11:11q13.4 association|affects
NM_002335.4(LRP5):c.4488+2T>G single nucleotide variant Exudative vitreoretinopathy 4, autosomal dominant [RCV000006667]|Familial exudative vitreoretinopathy [RCV000505032]|Inborn genetic diseases [RCV001267021]|not provided [RCV000489366] Chr11:68439918 [GRCh38]
Chr11:68207386 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4119dup (p.Lys1374fs) duplication Exudative vitreoretinopathy 4, autosomal dominant [RCV000006668] Chr11:68438451..68438452 [GRCh38]
Chr11:68205919..68205920 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) single nucleotide variant Exudative vitreoretinopathy 4, autosomal recessive [RCV000006669]|Inborn genetic diseases [RCV000623689] Chr11:68403607 [GRCh38]
Chr11:68171075 [GRCh37]
Chr11:11q13.2
pathogenic|likely pathogenic
NM_002335.4(LRP5):c.2254C>G (p.Arg752Gly) single nucleotide variant Exudative vitreoretinopathy 4, autosomal recessive [RCV000006670] Chr11:68410076 [GRCh38]
Chr11:68177544 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4099G>A (p.Glu1367Lys) single nucleotide variant Exudative vitreoretinopathy 4, autosomal recessive [RCV000006671] Chr11:68436987 [GRCh38]
Chr11:68204455 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) single nucleotide variant Exudative vitreoretinopathy 4, autosomal dominant [RCV000006672]|Osteoporosis with pseudoglioma [RCV000033256] Chr11:68348188 [GRCh38]
Chr11:68115656 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys) single nucleotide variant Exudative vitreoretinopathy 4, digenic [RCV000006673] Chr11:68386630 [GRCh38]
Chr11:68154098 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) single nucleotide variant Exudative vitreoretinopathy 4, autosomal recessive [RCV000006674] Chr11:68406550 [GRCh38]
Chr11:68174018 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.804_813del (p.Gly269fs) deletion Exudative vitreoretinopathy 4, autosomal recessive [RCV000006675] Chr11:68363862..68363871 [GRCh38]
Chr11:68131330..68131339 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.840dup (p.Pro281fs) duplication not provided [RCV000627524] Chr11:68363899..68363900 [GRCh38]
Chr11:68131367..68131368 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=) single nucleotide variant not provided [RCV000728257] Chr11:68426102 [GRCh38]
Chr11:68193570 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.*4C>T single nucleotide variant not provided [RCV000729392] Chr11:68449074 [GRCh38]
Chr11:68216542 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3515G>A (p.Arg1172His) single nucleotide variant not provided [RCV000518925] Chr11:68426065 [GRCh38]
Chr11:68193533 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 copy number loss See cases [RCV000052683] Chr11:67446153..68679073 [GRCh38]
Chr11:67213624..68446541 [GRCh37]
Chr11:66970200..68203117 [NCBI36]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.34_36CTG[8] (p.Leu20del) microsatellite not specified [RCV000173281] Chr11:68312747..68312749 [GRCh38]
Chr11:68080215..68080217 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.3(LRP5):c.1461C>T (p.Ala487=) single nucleotide variant Malignant melanoma [RCV000069646] Chr11:68389929 [GRCh38]
Chr11:68157397 [GRCh37]
Chr11:67913973 [NCBI36]
Chr11:11q13.2
not provided
NM_002335.3(LRP5):c.1502C>T (p.Ser501Phe) single nucleotide variant Malignant melanoma [RCV000062335] Chr11:68389970 [GRCh38]
Chr11:68157438 [GRCh37]
Chr11:67914014 [NCBI36]
Chr11:11q13.2
not provided
NM_002335.4(LRP5):c.2946C>T (p.Ile982=) single nucleotide variant not provided [RCV000911367] Chr11:68416446 [GRCh38]
Chr11:68183914 [GRCh37]
Chr11:67940490 [NCBI36]
Chr11:11q13.2
likely benign|not provided
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) single nucleotide variant Bone mineral density quantitative trait locus 1 [RCV000006666]|not provided [RCV000712233]|not specified [RCV000173754] Chr11:68410042 [GRCh38]
Chr11:68177510 [GRCh37]
Chr11:11q13.2
affects|benign
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) single nucleotide variant not provided [RCV000894562]|not specified [RCV000173755] Chr11:68410117 [GRCh38]
Chr11:68177585 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) single nucleotide variant not provided [RCV000171198] Chr11:68357846 [GRCh38]
Chr11:68125314 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) single nucleotide variant not provided [RCV000967218]|not specified [RCV000174310] Chr11:68413714 [GRCh38]
Chr11:68181182 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) single nucleotide variant not provided [RCV000905001]|not specified [RCV000175428] Chr11:68436977 [GRCh38]
Chr11:68204445 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.4000+10T>A single nucleotide variant not provided [RCV000956972]|not specified [RCV000175298] Chr11:68433848 [GRCh38]
Chr11:68201316 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His) single nucleotide variant Polycystic kidney disease, adult type [RCV000149785] Chr11:68426018 [GRCh38]
Chr11:68193486 [GRCh37]
Chr11:11q13.2
not provided
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) single nucleotide variant Polycystic liver disease 1 [RCV000149786]|Polycystic liver disease 4 with or without kidney cysts [RCV000584769] Chr11:68426112 [GRCh38]
Chr11:68193580 [GRCh37]
Chr11:11q13.2
pathogenic|not provided
NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser) single nucleotide variant Polycystic liver disease 1 [RCV000149787]|Polycystic liver disease 4 with or without kidney cysts [RCV000584817] Chr11:68448809 [GRCh38]
Chr11:68216277 [GRCh37]
Chr11:11q13.2
pathogenic|not provided
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn) single nucleotide variant POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS [RCV000584765]|Polycystic liver disease 1 [RCV000149788] Chr11:68448873 [GRCh38]
Chr11:68216341 [GRCh37]
Chr11:11q13.2
pathogenic|not provided
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) single nucleotide variant not provided [RCV000906012]|not specified [RCV000176061] Chr11:68438612 [GRCh38]
Chr11:68206080 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) single nucleotide variant not provided [RCV000960272]|not specified [RCV000176288] Chr11:68446521 [GRCh38]
Chr11:68213989 [GRCh37]
Chr11:11q13.2
benign|conflicting interpretations of pathogenicity
NM_002335.4(LRP5):c.1968C>T (p.His656=) single nucleotide variant not provided [RCV000962196]|not specified [RCV000180584] Chr11:68406690 [GRCh38]
Chr11:68174158 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.687-8G>A single nucleotide variant not provided [RCV000969606]|not specified [RCV000178179] Chr11:68363739 [GRCh38]
Chr11:68131207 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.34_36CTG[10] (p.Leu20dup) microsatellite not specified [RCV000173280] Chr11:68312746..68312747 [GRCh38]
Chr11:68080214..68080215 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.500G>C (p.Trp167Ser) single nucleotide variant Inborn genetic diseases [RCV000190810] Chr11:68357661 [GRCh38]
Chr11:68125129 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1697G>A (p.Arg566His) single nucleotide variant Leber congenital amaurosis [RCV000144476] Chr11:68403595 [GRCh38]
Chr11:68171063 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) single nucleotide variant not provided [RCV000954642]|not specified [RCV000173756] Chr11:68410015 [GRCh38]
Chr11:68177483 [GRCh37]
Chr11:11q13.2
benign|likely benign|uncertain significance
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) single nucleotide variant not provided [RCV000173757] Chr11:68410058 [GRCh38]
Chr11:68177526 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr) single nucleotide variant not provided [RCV000174065] Chr11:68411441 [GRCh38]
Chr11:68178909 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 copy number loss See cases [RCV000135609] Chr11:67217264..69448598 [GRCh38]
Chr11:66984735..69263366 [GRCh37]
Chr11:66741311..68972547 [NCBI36]
Chr11:11q13.2-13.3
likely pathogenic
GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3 copy number gain See cases [RCV000137992] Chr11:68205963..69580475 [GRCh38]
Chr11:67973430..69395243 [GRCh37]
Chr11:67730006..69104424 [NCBI36]
Chr11:11q13.2-13.3
likely benign
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=) single nucleotide variant not provided [RCV000724886]|not specified [RCV000175299] Chr11:68433828 [GRCh38]
Chr11:68201296 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002335.3(LRP5):c.32_33insGCT (p.Leu20_Ala21insLeu) insertion not specified [RCV000203052] Chr11:68312746..68312747 [GRCh38]
Chr11:68080214..68080215 [GRCh37]
Chr11:11q13.2
benign
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4
likely pathogenic
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) single nucleotide variant not specified [RCV000175719] Chr11:68348021 [GRCh38]
Chr11:68115489 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) single nucleotide variant not provided [RCV000175720] Chr11:68348018 [GRCh38]
Chr11:68115486 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.295G>A (p.Val99Met) single nucleotide variant not provided [RCV000175721] Chr11:68348050 [GRCh38]
Chr11:68115518 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) single nucleotide variant not provided [RCV000724481] Chr11:68446512 [GRCh38]
Chr11:68213980 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) single nucleotide variant Polycystic liver disease 1 [RCV000162092]|Polycystic liver disease 4 with or without kidney cysts [RCV000584798] Chr11:68386660 [GRCh38]
Chr11:68154128 [GRCh37]
Chr11:11q13.2
pathogenic|not provided
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) single nucleotide variant Polycystic kidney disease, adult type [RCV000162088] Chr11:68403578 [GRCh38]
Chr11:68171046 [GRCh37]
Chr11:11q13.2
not provided
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) single nucleotide variant Autosomal dominant osteopetrosis 1 [RCV001260288]|Bone mineral density quantitative trait locus 1 [RCV000765011]|Polycystic kidney disease, adult type [RCV000162089]|not provided [RCV000767146]|not specified [RCV000174732] Chr11:68423568 [GRCh38]
Chr11:68191036 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) single nucleotide variant Polycystic kidney disease, adult type [RCV000162090]|not provided [RCV000658613] Chr11:68425268 [GRCh38]
Chr11:68192736 [GRCh37]
Chr11:11q13.2
uncertain significance|not provided
NM_002335.4(LRP5):c.713C>T (p.Thr238Met) single nucleotide variant not provided [RCV000178178] Chr11:68363773 [GRCh38]
Chr11:68131241 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1585-9G>A single nucleotide variant not provided [RCV000180228] Chr11:68403474 [GRCh38]
Chr11:68170942 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.639C>T (p.Asp213=) single nucleotide variant not provided [RCV000513282] Chr11:68357800 [GRCh38]
Chr11:68125268 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.34_36CTG[6] (p.Leu18_Leu20del) microsatellite not provided [RCV000827981]|not specified [RCV000186572] Chr11:68312747..68312755 [GRCh38]
Chr11:68080215..68080223 [GRCh37]
Chr11:11q13.2
likely pathogenic|likely benign|uncertain significance
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) single nucleotide variant Osteoporosis with pseudoglioma [RCV000258126] Chr11:68386442 [GRCh38]
Chr11:68153910 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1034T>A (p.Leu345Gln) single nucleotide variant Retinal dystrophy [RCV000225565] Chr11:68386334 [GRCh38]
Chr11:68153802 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.121C>T (p.Arg41Trp) single nucleotide variant Retinal dystrophy [RCV000225661]|not provided [RCV001227163] Chr11:68347876 [GRCh38]
Chr11:68115344 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) single nucleotide variant not provided [RCV000595899] Chr11:68403492 [GRCh38]
Chr11:68170960 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1932G>A (p.Glu644=) single nucleotide variant not specified [RCV000246217] Chr11:68406654 [GRCh38]
Chr11:68174122 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.2318+6T>C single nucleotide variant not specified [RCV000246341] Chr11:68410146 [GRCh38]
Chr11:68177614 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3297C>T (p.Asp1099=) single nucleotide variant not specified [RCV000241623] Chr11:68425162 [GRCh38]
Chr11:68192630 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) single nucleotide variant not provided [RCV000712235]|not specified [RCV000244093] Chr11:68449010 [GRCh38]
Chr11:68216478 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_002335.4(LRP5):c.1412+8G>A single nucleotide variant not provided [RCV000712231]|not specified [RCV000249210] Chr11:68386720 [GRCh38]
Chr11:68154188 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.1647T>C (p.Phe549=) single nucleotide variant not specified [RCV000253993] Chr11:68403545 [GRCh38]
Chr11:68171013 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3357G>A (p.Val1119=) single nucleotide variant not specified [RCV000246826] Chr11:68425222 [GRCh38]
Chr11:68192690 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) single nucleotide variant Osteoporosis with pseudoglioma [RCV000988589]|not provided [RCV000712234]|not specified [RCV000242123] Chr11:68433827 [GRCh38]
Chr11:68201295 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3858C>T (p.Cys1286=) single nucleotide variant not specified [RCV000249979] Chr11:68433696 [GRCh38]
Chr11:68201164 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.884-4T>C single nucleotide variant not provided [RCV000712236]|not specified [RCV000252412] Chr11:68365567 [GRCh38]
Chr11:68133035 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.1582G>A (p.Glu528Lys) single nucleotide variant not provided [RCV000519523] Chr11:68390050 [GRCh38]
Chr11:68157518 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1507G>A (p.Gly503Arg) single nucleotide variant not provided [RCV000521978] Chr11:68389975 [GRCh38]
Chr11:68157443 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.2234C>T (p.Ala745Val) single nucleotide variant not provided [RCV000270488] Chr11:68410056 [GRCh38]
Chr11:68177524 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) single nucleotide variant not provided [RCV000273057] Chr11:68413964 [GRCh38]
Chr11:68181432 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) single nucleotide variant not provided [RCV000880924]|not specified [RCV000277915] Chr11:68439808 [GRCh38]
Chr11:68207276 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.34_36CTG[7] (p.Leu19_Leu20del) microsatellite not provided [RCV000278068] Chr11:68312747..68312752 [GRCh38]
Chr11:68080215..68080220 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.12G>A (p.Ala4=) single nucleotide variant not provided [RCV000346945] Chr11:68312726 [GRCh38]
Chr11:68080194 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3153C>T (p.His1051=) single nucleotide variant not provided [RCV000279278] Chr11:68423614 [GRCh38]
Chr11:68191082 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.-8C>T single nucleotide variant not provided [RCV000384133] Chr11:68312707 [GRCh38]
Chr11:68080175 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=) single nucleotide variant not provided [RCV000282722] Chr11:68439787 [GRCh38]
Chr11:68207255 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.-19del deletion not provided [RCV000726017]|not specified [RCV000348910] Chr11:68312694 [GRCh38]
Chr11:68080162 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) single nucleotide variant not provided [RCV000387129] Chr11:68410139 [GRCh38]
Chr11:68177607 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.14C>T (p.Pro5Leu) single nucleotide variant not provided [RCV000387467] Chr11:68312728 [GRCh38]
Chr11:68080196 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.91+13A>G single nucleotide variant not provided [RCV000352709] Chr11:68312818 [GRCh38]
Chr11:68080286 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile) single nucleotide variant not provided [RCV000355463] Chr11:68438529 [GRCh38]
Chr11:68205997 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.4458G>T (p.Ser1486=) single nucleotide variant not provided [RCV000973474]|not specified [RCV000356954] Chr11:68439886 [GRCh38]
Chr11:68207354 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.9A>T (p.Ala3=) single nucleotide variant not provided [RCV000292115] Chr11:68312723 [GRCh38]
Chr11:68080191 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) duplication Exudative vitreoretinopathy 4 [RCV000761295]|not provided [RCV000387065] Chr11:68413921..68413922 [GRCh38]
Chr11:68181389..68181390 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1818G>A (p.Ala606=) single nucleotide variant not provided [RCV000259410] Chr11:68406540 [GRCh38]
Chr11:68174008 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2463C>T (p.Thr821=) single nucleotide variant not provided [RCV000292871] Chr11:68411580 [GRCh38]
Chr11:68179048 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.90G>A (p.Ala30=) single nucleotide variant not provided [RCV000293121] Chr11:68312804 [GRCh38]
Chr11:68080272 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3553G>A (p.Gly1185Arg) single nucleotide variant not provided [RCV000293441] Chr11:68426103 [GRCh38]
Chr11:68193571 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.91+19G>A single nucleotide variant not provided [RCV000397026] Chr11:68312824 [GRCh38]
Chr11:68080292 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) single nucleotide variant not provided [RCV000263817] Chr11:68409946 [GRCh38]
Chr11:68177414 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.98C>T (p.Pro33Leu) single nucleotide variant not provided [RCV000329117] Chr11:68347853 [GRCh38]
Chr11:68115321 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) single nucleotide variant not provided [RCV000912047]|not specified [RCV000403329] Chr11:68386692 [GRCh38]
Chr11:68154160 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.738C>T (p.Ser246=) single nucleotide variant not provided [RCV000300013] Chr11:68363798 [GRCh38]
Chr11:68131266 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) single nucleotide variant Retinal dystrophy [RCV001073591]|not provided [RCV000405045] Chr11:68416451 [GRCh38]
Chr11:68183919 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4484C>T (p.Pro1495Leu) single nucleotide variant not provided [RCV000406826] Chr11:68439912 [GRCh38]
Chr11:68207380 [GRCh37]
Chr11:11q13.2
uncertain significance
Single allele duplication not specified [RCV000597927] Chr11:68080237..68080242 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) single nucleotide variant Bone mineral density quantitative trait locus 1 [RCV000490446] Chr11:68357754 [GRCh38]
Chr11:68125222 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001270176] Chr11:68413770 [GRCh38]
Chr11:68181238 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) single nucleotide variant not provided [RCV000596311] Chr11:68448865 [GRCh38]
Chr11:68216333 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.996C>T (p.Asn332=) single nucleotide variant not provided [RCV000596536] Chr11:68365683 [GRCh38]
Chr11:68133151 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4209C>G (p.Val1403=) single nucleotide variant not provided [RCV000881562]|not specified [RCV000596722] Chr11:68438543 [GRCh38]
Chr11:68206011 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) single nucleotide variant Exudative vitreoretinopathy 4 [RCV001170037] Chr11:68365604 [GRCh38]
Chr11:68133072 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val) single nucleotide variant not specified [RCV000592263] Chr11:68425121 [GRCh38]
Chr11:68192589 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.144C>T (p.Ala48=) single nucleotide variant not provided [RCV000592844] Chr11:68347899 [GRCh38]
Chr11:68115367 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.16C>A (p.Pro6Thr) single nucleotide variant not provided [RCV000712232]|not specified [RCV000592927] Chr11:68312730 [GRCh38]
Chr11:68080198 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.1413-7T>A single nucleotide variant not provided [RCV000579350] Chr11:68389874 [GRCh38]
Chr11:68157342 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2132_2133dup (p.Val712fs) duplication not provided [RCV000599344] Chr11:68409952..68409953 [GRCh38]
Chr11:68177420..68177421 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4272C>T (p.His1424=) single nucleotide variant not provided [RCV000596327] Chr11:68438606 [GRCh38]
Chr11:68206074 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.4225C>T (p.Arg1409Cys) single nucleotide variant not provided [RCV000596897] Chr11:68438559 [GRCh38]
Chr11:68206027 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) single nucleotide variant not specified [RCV000597329] Chr11:68386695 [GRCh38]
Chr11:68154163 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2457C>G (p.Tyr819Ter) single nucleotide variant not provided [RCV000415804] Chr11:68411574 [GRCh38]
Chr11:68179042 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1299C>T (p.Thr433=) single nucleotide variant not provided [RCV000728311] Chr11:68386599 [GRCh38]
Chr11:68154067 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2827+1G>A single nucleotide variant not provided [RCV000728312] Chr11:68414013 [GRCh38]
Chr11:68181481 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.2827+5G>A single nucleotide variant not provided [RCV000728313] Chr11:68414017 [GRCh38]
Chr11:68181485 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.480C>T (p.Pro160=) single nucleotide variant not provided [RCV000733130] Chr11:68348235 [GRCh38]
Chr11:68115703 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1032G>C (p.Leu344=) single nucleotide variant not provided [RCV000733139] Chr11:68386332 [GRCh38]
Chr11:68153800 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2608C>T (p.Arg870Trp) single nucleotide variant not provided [RCV000416043] Chr11:68413793 [GRCh38]
Chr11:68181261 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.480del (p.Ala161fs) deletion not provided [RCV000416185] Chr11:68348232 [GRCh38]
Chr11:68115700 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.2009C>T (p.Pro670Leu) single nucleotide variant not provided [RCV000728907] Chr11:68406731 [GRCh38]
Chr11:68174199 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1002G>A (p.Arg334=) single nucleotide variant not provided [RCV000733945] Chr11:68365689 [GRCh38]
Chr11:68133157 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2241G>A (p.Leu747=) single nucleotide variant not provided [RCV000733951] Chr11:68410063 [GRCh38]
Chr11:68177531 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.883+2_883+3del microsatellite not provided [RCV000733959] Chr11:68363943..68363944 [GRCh38]
Chr11:68131411..68131412 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) single nucleotide variant not provided [RCV000896788]|not specified [RCV000733354] Chr11:68429660 [GRCh38]
Chr11:68197128 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.34_36CTG[11] (p.Leu19_Leu20dup) microsatellite not provided [RCV000767145]|not specified [RCV000413938] Chr11:68312746..68312747 [GRCh38]
Chr11:68080214..68080215 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2139G>A (p.Val713=) single nucleotide variant not provided [RCV000885479]|not specified [RCV000438169] Chr11:68409961 [GRCh38]
Chr11:68177429 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.2766C>T (p.Gly922=) single nucleotide variant not specified [RCV000438205] Chr11:68413951 [GRCh38]
Chr11:68181419 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg) single nucleotide variant Familial exudative vitreoretinopathy [RCV000504872] Chr11:68425107 [GRCh38]
Chr11:68192575 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.375G>T (p.Thr125=) single nucleotide variant not provided [RCV000916684]|not specified [RCV000431949] Chr11:68348130 [GRCh38]
Chr11:68115598 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.303C>T (p.Asn101=) single nucleotide variant not provided [RCV000916683]|not specified [RCV000421681] Chr11:68348058 [GRCh38]
Chr11:68115526 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2445C>T (p.Asp815=) single nucleotide variant not provided [RCV000897519]|not specified [RCV000425884] Chr11:68411562 [GRCh38]
Chr11:68179030 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.1265C>T (p.Ala422Val) single nucleotide variant Familial exudative vitreoretinopathy [RCV000504644] Chr11:68386565 [GRCh38]
Chr11:68154033 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) single nucleotide variant Osteoporosis with pseudoglioma [RCV000417043] Chr11:68347960 [GRCh38]
Chr11:68115428 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.4489-2A>G single nucleotide variant Osteoporosis with pseudoglioma [RCV000417056] Chr11:68446434 [GRCh38]
Chr11:68213902 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1748A>T (p.Asp583Val) single nucleotide variant not provided [RCV000480193] Chr11:68403646 [GRCh38]
Chr11:68171114 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) single nucleotide variant Exudative vitreoretinopathy 4 [RCV000490288]|not provided [RCV000486498] Chr11:68425226 [GRCh38]
Chr11:68192694 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_002335.4(LRP5):c.2384A>G (p.Asn795Ser) single nucleotide variant not provided [RCV000482492] Chr11:68411501 [GRCh38]
Chr11:68178969 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4057C>T (p.Gln1353Ter) single nucleotide variant not provided [RCV000523132] Chr11:68436945 [GRCh38]
Chr11:68204413 [GRCh37]
Chr11:11q13.2
pathogenic
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 copy number loss See cases [RCV000510219] Chr11:67799160..70701268 [GRCh37]
Chr11:11q13.2-13.4
likely pathogenic
NM_002335.4(LRP5):c.592A>T (p.Asn198Tyr) single nucleotide variant High bone mass [RCV000505670] Chr11:68357753 [GRCh38]
Chr11:68125221 [GRCh37]
Chr11:11q13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002335.4(LRP5):c.185del (p.Leu62fs) deletion not provided [RCV000595987] Chr11:68347940 [GRCh38]
Chr11:68115408 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4728A>C (p.Pro1576=) single nucleotide variant not provided [RCV000597557] Chr11:68448950 [GRCh38]
Chr11:68216418 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) deletion Inborn genetic diseases [RCV000624761]|Retinal dystrophy [RCV001073521]|not provided [RCV000733961] Chr11:68413901..68413904 [GRCh38]
Chr11:68181369..68181372 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4431C>T (p.His1477=) single nucleotide variant not provided [RCV000963945]|not specified [RCV000607241] Chr11:68439859 [GRCh38]
Chr11:68207327 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.283A>C (p.Thr95Pro) single nucleotide variant not provided [RCV000594100] Chr11:68348038 [GRCh38]
Chr11:68115506 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=) single nucleotide variant not provided [RCV000972295]|not specified [RCV000602367] Chr11:68448845 [GRCh38]
Chr11:68216313 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) single nucleotide variant not provided [RCV000594637] Chr11:68348162 [GRCh38]
Chr11:68115630 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) single nucleotide variant Inborn genetic diseases [RCV000623147]|Retinal dystrophy [RCV001073522] Chr11:68423693 [GRCh38]
Chr11:68191161 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) single nucleotide variant Bone mineral density quantitative trait locus 1 [RCV000765010]|Inborn genetic diseases [RCV000624387]|not provided [RCV000732842] Chr11:68386499 [GRCh38]
Chr11:68153967 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) single nucleotide variant not provided [RCV000658614] Chr11:68429592 [GRCh38]
Chr11:68197060 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) single nucleotide variant not provided [RCV000658612] Chr11:68425110 [GRCh38]
Chr11:68192578 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4488+6G>T single nucleotide variant not provided [RCV000658615] Chr11:68439922 [GRCh38]
Chr11:68207390 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) single nucleotide variant Vitreoretinopathy [RCV000678474] Chr11:68406812 [GRCh38]
Chr11:68174280 [GRCh37]
Chr11:11q13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002335.4(LRP5):c.1236C>T (p.Asn412=) single nucleotide variant not provided [RCV000918310] Chr11:68386536 [GRCh38]
Chr11:68154004 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1801+10G>C single nucleotide variant not provided [RCV000980522] Chr11:68403709 [GRCh38]
Chr11:68171177 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr) single nucleotide variant Postmenopausal osteoporosis [RCV000761563] Chr11:68429695 [GRCh38]
Chr11:68197163 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) single nucleotide variant not provided [RCV000761788] Chr11:68357684 [GRCh38]
Chr11:68125152 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) single nucleotide variant not provided [RCV000761789] Chr11:68386321 [GRCh38]
Chr11:68153789 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) single nucleotide variant not provided [RCV001053617] Chr11:68357841 [GRCh38]
Chr11:68125309 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2133C>T (p.His711=) single nucleotide variant not provided [RCV000973473] Chr11:68409955 [GRCh38]
Chr11:68177423 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.1707G>A (p.Glu569=) single nucleotide variant not provided [RCV000922611] Chr11:68403605 [GRCh38]
Chr11:68171073 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2076A>G (p.Thr692=) single nucleotide variant not provided [RCV000898997] Chr11:68406798 [GRCh38]
Chr11:68174266 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3237-5C>T single nucleotide variant not provided [RCV000900436] Chr11:68425097 [GRCh38]
Chr11:68192565 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4095C>T (p.Ser1365=) single nucleotide variant not provided [RCV000922863] Chr11:68436983 [GRCh38]
Chr11:68204451 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4458G>A (p.Ser1486=) single nucleotide variant not provided [RCV000899166] Chr11:68439886 [GRCh38]
Chr11:68207354 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.2556G>A (p.Thr852=) single nucleotide variant not provided [RCV000923981] Chr11:68413741 [GRCh38]
Chr11:68181209 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2358C>T (p.Ile786=) single nucleotide variant not provided [RCV000923173] Chr11:68411475 [GRCh38]
Chr11:68178943 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) single nucleotide variant not provided [RCV000879067] Chr11:68413729 [GRCh38]
Chr11:68181197 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.195G>A (p.Ala65=) single nucleotide variant not provided [RCV000943353] Chr11:68347950 [GRCh38]
Chr11:68115418 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=) single nucleotide variant not provided [RCV000971183] Chr11:68433717 [GRCh38]
Chr11:68201185 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1996G>A (p.Asp666Asn) single nucleotide variant Microcephaly [RCV001252844]|not provided [RCV000975980] Chr11:68406718 [GRCh38]
Chr11:68174186 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_002335.4(LRP5):c.1959C>T (p.Ala653=) single nucleotide variant not provided [RCV000926858] Chr11:68406681 [GRCh38]
Chr11:68174149 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1518C>T (p.Asn506=) single nucleotide variant not provided [RCV000944040] Chr11:68389986 [GRCh38]
Chr11:68157454 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3027+10C>T single nucleotide variant not provided [RCV000902128] Chr11:68416537 [GRCh38]
Chr11:68184005 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1134C>T (p.Ile378=) single nucleotide variant not provided [RCV000981247] Chr11:68386434 [GRCh38]
Chr11:68153902 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=) single nucleotide variant not provided [RCV000905891] Chr11:68438582 [GRCh38]
Chr11:68206050 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2637C>T (p.Arg879=) single nucleotide variant not provided [RCV000924564] Chr11:68413822 [GRCh38]
Chr11:68181290 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.2467C>T (p.Leu823=) single nucleotide variant not provided [RCV000927277] Chr11:68411584 [GRCh38]
Chr11:68179052 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3291C>T (p.Ala1097=) single nucleotide variant not provided [RCV000922310] Chr11:68425156 [GRCh38]
Chr11:68192624 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1176C>T (p.Asp392=) single nucleotide variant not provided [RCV000924676] Chr11:68386476 [GRCh38]
Chr11:68153944 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=) single nucleotide variant not provided [RCV000927336] Chr11:68426150 [GRCh38]
Chr11:68193618 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.141C>T (p.Asp47=) single nucleotide variant not provided [RCV000925559] Chr11:68347896 [GRCh38]
Chr11:68115364 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4183_4184CT[3] (p.Leu1397fs) microsatellite Retinal dystrophy [RCV001075325] Chr11:68438517..68438520 [GRCh38]
Chr11:68205985..68205988 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile) single nucleotide variant not provided [RCV001043932] Chr11:68403636 [GRCh38]
Chr11:68171104 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1666G>C (p.Asp556His) single nucleotide variant not provided [RCV001066999] Chr11:68403564 [GRCh38]
Chr11:68171032 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) single nucleotide variant not provided [RCV001071978] Chr11:68433674 [GRCh38]
Chr11:68201142 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) single nucleotide variant Retinal dystrophy [RCV001075597] Chr11:68386604 [GRCh38]
Chr11:68154072 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2216C>G (p.Thr739Ser) single nucleotide variant not provided [RCV001063370] Chr11:68410038 [GRCh38]
Chr11:68177506 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) single nucleotide variant not provided [RCV001062922] Chr11:68425202 [GRCh38]
Chr11:68192670 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) single nucleotide variant not provided [RCV001046325] Chr11:68386526 [GRCh38]
Chr11:68153994 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) indel Retinal dystrophy [RCV001073443]|not provided [RCV001280719] Chr11:68347964..68347965 [GRCh38]
Chr11:68115432..68115433 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.92-6C>G single nucleotide variant not provided [RCV001035218] Chr11:68347841 [GRCh38]
Chr11:68115309 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4700_4706del (p.Asn1567fs) deletion not provided [RCV001070553] Chr11:68448920..68448926 [GRCh38]
Chr11:68216388..68216394 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2408T>C (p.Val803Ala) single nucleotide variant not provided [RCV001070738] Chr11:68411525 [GRCh38]
Chr11:68178993 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4293G>A (p.Pro1431=) single nucleotide variant not provided [RCV000917590] Chr11:68438627 [GRCh38]
Chr11:68206095 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1800C>T (p.Val600=) single nucleotide variant not provided [RCV000980521] Chr11:68403698 [GRCh38]
Chr11:68171166 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.1412+9G>A single nucleotide variant not provided [RCV000897272] Chr11:68386721 [GRCh38]
Chr11:68154189 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4488+10G>A single nucleotide variant not provided [RCV000894840] Chr11:68439926 [GRCh38]
Chr11:68207394 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=) single nucleotide variant not provided [RCV000918529] Chr11:68433789 [GRCh38]
Chr11:68201257 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=) single nucleotide variant not provided [RCV000931604] Chr11:68436953 [GRCh38]
Chr11:68204421 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.489-7G>A single nucleotide variant not provided [RCV000979638] Chr11:68357643 [GRCh38]
Chr11:68125111 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu) single nucleotide variant not provided [RCV000917477] Chr11:68446458 [GRCh38]
Chr11:68213926 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.290C>T (p.Ala97Val) single nucleotide variant not provided [RCV000899044] Chr11:68348045 [GRCh38]
Chr11:68115513 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2457C>T (p.Tyr819=) single nucleotide variant not provided [RCV000980001] Chr11:68411574 [GRCh38]
Chr11:68179042 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4098C>T (p.Asp1366=) single nucleotide variant not provided [RCV000977734] Chr11:68436986 [GRCh38]
Chr11:68204454 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.714G>A (p.Thr238=) single nucleotide variant not provided [RCV000900454] Chr11:68363774 [GRCh38]
Chr11:68131242 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4353C>T (p.Ile1451=) single nucleotide variant not provided [RCV000917787] Chr11:68439781 [GRCh38]
Chr11:68207249 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4227C>T (p.Arg1409=) single nucleotide variant not provided [RCV000919405] Chr11:68438561 [GRCh38]
Chr11:68206029 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4251G>A (p.Gly1417=) single nucleotide variant not provided [RCV000897061] Chr11:68438585 [GRCh38]
Chr11:68206053 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1412+7C>T single nucleotide variant not provided [RCV000983077] Chr11:68386719 [GRCh38]
Chr11:68154187 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2595G>T (p.Leu865=) single nucleotide variant not provided [RCV000902300] Chr11:68413780 [GRCh38]
Chr11:68181248 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4461C>G (p.Ser1487=) single nucleotide variant not provided [RCV000980547] Chr11:68439889 [GRCh38]
Chr11:68207357 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.518C>T (p.Thr173Met) single nucleotide variant not provided [RCV000827982] Chr11:68357679 [GRCh38]
Chr11:68125147 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) single nucleotide variant not specified [RCV000790974] Chr11:68347954 [GRCh38]
Chr11:68115422 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.2022C>T (p.Val674=) single nucleotide variant not provided [RCV000915942] Chr11:68406744 [GRCh38]
Chr11:68174212 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) single nucleotide variant Osteoporosis with pseudoglioma [RCV000988588] Chr11:68433695 [GRCh38]
Chr11:68201163 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.459G>A (p.Pro153=) single nucleotide variant not provided [RCV000827328] Chr11:68348214 [GRCh38]
Chr11:68115682 [GRCh37]
Chr11:11q13.2
benign|likely benign
GRCh37/hg19 11q13.2-13.3(chr11:67826766-68440477)x3 copy number gain not provided [RCV000846333] Chr11:67826766..68440477 [GRCh37]
Chr11:11q13.2-13.3
uncertain significance
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) single nucleotide variant not provided [RCV000994676] Chr11:68425996 [GRCh38]
Chr11:68193464 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.4734G>A (p.Thr1578=) single nucleotide variant not provided [RCV000994677] Chr11:68448956 [GRCh38]
Chr11:68216424 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4090_4111+398del deletion not provided [RCV001055129] Chr11:68436976..68437395 [GRCh38]
Chr11:68204444..68204863 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) single nucleotide variant not provided [RCV001058303] Chr11:68357694 [GRCh38]
Chr11:68125162 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2814C>T (p.Ser938=) single nucleotide variant not provided [RCV000981821] Chr11:68413999 [GRCh38]
Chr11:68181467 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3861T>C (p.Asp1287=) single nucleotide variant not provided [RCV000978444] Chr11:68433699 [GRCh38]
Chr11:68201167 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) single nucleotide variant not provided [RCV000788508] Chr11:68426078 [GRCh38]
Chr11:68193546 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) single nucleotide variant Exudative vitreoretinopathy 4 [RCV000785877] Chr11:68439916 [GRCh38]
Chr11:68207384 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1080G>A (p.Pro360=) single nucleotide variant not provided [RCV000940433] Chr11:68386380 [GRCh38]
Chr11:68153848 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1585-11C>T single nucleotide variant not provided [RCV000827339] Chr11:68403472 [GRCh38]
Chr11:68170940 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2226C>T (p.Ile742=) single nucleotide variant not provided [RCV000897250] Chr11:68410048 [GRCh38]
Chr11:68177516 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1801+14dup duplication not provided [RCV000897273] Chr11:68403707..68403708 [GRCh38]
Chr11:68171175..68171176 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) single nucleotide variant not provided [RCV001056554] Chr11:68386628 [GRCh38]
Chr11:68154096 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1269C>T (p.Val423=) single nucleotide variant not provided [RCV000936690] Chr11:68386569 [GRCh38]
Chr11:68154037 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) single nucleotide variant Diaphyseal dysplasia [RCV000993690] Chr11:68403516 [GRCh38]
Chr11:68170984 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2080G>A (p.Val694Ile) single nucleotide variant not provided [RCV001054124] Chr11:68406802 [GRCh38]
Chr11:68174270 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) single nucleotide variant not provided [RCV001054457] Chr11:68433739 [GRCh38]
Chr11:68201207 [GRCh37]
Chr11:11q13.2
benign|uncertain significance
NM_002335.4(LRP5):c.687-2A>T single nucleotide variant not provided [RCV001231514] Chr11:68363745 [GRCh38]
Chr11:68131213 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.796C>A (p.Arg266Ser) single nucleotide variant not provided [RCV001231203] Chr11:68363856 [GRCh38]
Chr11:68131324 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) single nucleotide variant not provided [RCV001248036] Chr11:68438476 [GRCh38]
Chr11:68205944 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) single nucleotide variant Osteoporosis with pseudoglioma [RCV001260286]|not provided [RCV001202577] Chr11:68386648 [GRCh38]
Chr11:68154116 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_002335.4(LRP5):c.3393G>A (p.Ala1131=) single nucleotide variant not provided [RCV001240122] Chr11:68425258 [GRCh38]
Chr11:68192726 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4783G>A (p.Ala1595Thr) single nucleotide variant not provided [RCV001239383] Chr11:68449005 [GRCh38]
Chr11:68216473 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) single nucleotide variant not provided [RCV001242598] Chr11:68403591 [GRCh38]
Chr11:68171059 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) single nucleotide variant not provided [RCV001205179] Chr11:68446527 [GRCh38]
Chr11:68213995 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) single nucleotide variant not provided [RCV001206213] Chr11:68413703 [GRCh38]
Chr11:68181171 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) single nucleotide variant not provided [RCV001226974] Chr11:68448976 [GRCh38]
Chr11:68216444 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) single nucleotide variant not provided [RCV001235053] Chr11:68413698 [GRCh38]
Chr11:68181166 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1798G>A (p.Val600Ile) single nucleotide variant not provided [RCV001241418] Chr11:68403696 [GRCh38]
Chr11:68171164 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) single nucleotide variant not provided [RCV001243250] Chr11:68389952 [GRCh38]
Chr11:68157420 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2641C>T (p.Leu881Phe) single nucleotide variant not provided [RCV001237962] Chr11:68413826 [GRCh38]
Chr11:68181294 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) single nucleotide variant Osteoporosis with pseudoglioma [RCV001260287]|not provided [RCV001243546] Chr11:68416505 [GRCh38]
Chr11:68183973 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_002335.4(LRP5):c.4000+1G>T single nucleotide variant not provided [RCV001218256] Chr11:68433839 [GRCh38]
Chr11:68201307 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1199C>A (p.Ala400Glu) single nucleotide variant not provided [RCV001242102] Chr11:68386499 [GRCh38]
Chr11:68153967 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) single nucleotide variant not provided [RCV001052449] Chr11:68423609 [GRCh38]
Chr11:68191077 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) single nucleotide variant not provided [RCV001210244] Chr11:68433757 [GRCh38]
Chr11:68201225 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1300G>A (p.Asp434Asn) single nucleotide variant not provided [RCV001225923] Chr11:68386600 [GRCh38]
Chr11:68154068 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.622A>G (p.Lys208Glu) single nucleotide variant not provided [RCV001238409] Chr11:68357783 [GRCh38]
Chr11:68125251 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3958G>A (p.Glu1320Lys) single nucleotide variant not provided [RCV001218896] Chr11:68433796 [GRCh38]
Chr11:68201264 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2581A>T (p.Thr861Ser) single nucleotide variant Exudative vitreoretinopathy 4 [RCV001196698] Chr11:68413766 [GRCh38]
Chr11:68181234 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3436C>T (p.Arg1146Cys) single nucleotide variant not provided [RCV001200375] Chr11:68425986 [GRCh38]
Chr11:68193454 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4292C>T (p.Pro1431Leu) single nucleotide variant not provided [RCV001219063] Chr11:68438626 [GRCh38]
Chr11:68206094 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3027+6T>C single nucleotide variant not provided [RCV001229738] Chr11:68416533 [GRCh38]
Chr11:68184001 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.915C>G (p.Gly305=) single nucleotide variant not provided [RCV000994675] Chr11:68365602 [GRCh38]
Chr11:68133070 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.883+20C>T single nucleotide variant Exudative vitreoretinopathy 4 [RCV001196109] Chr11:68363963 [GRCh38]
Chr11:68131431 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3307C>A (p.Arg1103Ser) single nucleotide variant not provided [RCV001061366] Chr11:68425172 [GRCh38]
Chr11:68192640 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) single nucleotide variant not provided [RCV001245766] Chr11:68411476 [GRCh38]
Chr11:68178944 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.291C>T (p.Ala97=) single nucleotide variant not provided [RCV000922284] Chr11:68348046 [GRCh38]
Chr11:68115514 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) single nucleotide variant not provided [RCV000910593] Chr11:68433726 [GRCh38]
Chr11:68201194 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.486C>T (p.His162=) single nucleotide variant not provided [RCV000885949] Chr11:68348241 [GRCh38]
Chr11:68115709 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1802-9C>G single nucleotide variant not provided [RCV000930398] Chr11:68406515 [GRCh38]
Chr11:68173983 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1248C>T (p.Asn416=) single nucleotide variant not provided [RCV000909085] Chr11:68386548 [GRCh38]
Chr11:68154016 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4830C>T (p.Pro1610=) single nucleotide variant not provided [RCV000975243] Chr11:68449052 [GRCh38]
Chr11:68216520 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2503+10G>A single nucleotide variant not provided [RCV000907932] Chr11:68411630 [GRCh38]
Chr11:68179098 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1365G>A (p.Ser455=) single nucleotide variant not provided [RCV000881365] Chr11:68386665 [GRCh38]
Chr11:68154133 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.747T>A (p.Thr249=) single nucleotide variant not provided [RCV000907515] Chr11:68363807 [GRCh38]
Chr11:68131275 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) single nucleotide variant not provided [RCV000950206] Chr11:68426114 [GRCh38]
Chr11:68193582 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.2265C>T (p.Leu755=) single nucleotide variant not provided [RCV000897410] Chr11:68410087 [GRCh38]
Chr11:68177555 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) single nucleotide variant not provided [RCV000919960] Chr11:68386521 [GRCh38]
Chr11:68153989 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.2964C>T (p.Asp988=) single nucleotide variant not provided [RCV000923748] Chr11:68416464 [GRCh38]
Chr11:68183932 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3783G>A (p.Pro1261=) single nucleotide variant not provided [RCV000910238] Chr11:68433621 [GRCh38]
Chr11:68201089 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1377C>T (p.Asp459=) single nucleotide variant not provided [RCV000885554] Chr11:68386677 [GRCh38]
Chr11:68154145 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4815G>A (p.Pro1605=) single nucleotide variant not provided [RCV000924145] Chr11:68449037 [GRCh38]
Chr11:68216505 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1605G>A (p.Thr535=) single nucleotide variant not provided [RCV000921733] Chr11:68403503 [GRCh38]
Chr11:68170971 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4488+9C>G single nucleotide variant not provided [RCV000942583] Chr11:68439925 [GRCh38]
Chr11:68207393 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=) single nucleotide variant not provided [RCV000910906] Chr11:68448911 [GRCh38]
Chr11:68216379 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.2175T>C (p.Val725=) single nucleotide variant not provided [RCV000982440] Chr11:68409997 [GRCh38]
Chr11:68177465 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.675C>T (p.Asp225=) single nucleotide variant not provided [RCV000918373] Chr11:68357836 [GRCh38]
Chr11:68125304 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.1827C>T (p.Asn609=) single nucleotide variant not provided [RCV000931543] Chr11:68406549 [GRCh38]
Chr11:68174017 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) single nucleotide variant not provided [RCV001238713] Chr11:68446464 [GRCh38]
Chr11:68213932 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) single nucleotide variant not provided [RCV001238748] Chr11:68389987 [GRCh38]
Chr11:68157455 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) single nucleotide variant not provided [RCV001203359] Chr11:68433785 [GRCh38]
Chr11:68201253 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.576G>A (p.Ser192=) single nucleotide variant not provided [RCV001067148] Chr11:68357737 [GRCh38]
Chr11:68125205 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4183C>A (p.Leu1395Ile) single nucleotide variant not provided [RCV001244589] Chr11:68438517 [GRCh38]
Chr11:68205985 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) single nucleotide variant not provided [RCV001203555] Chr11:68426164 [GRCh38]
Chr11:68193632 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2182A>T (p.Met728Leu) single nucleotide variant not provided [RCV001236094] Chr11:68410004 [GRCh38]
Chr11:68177472 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.997G>A (p.Gly333Ser) single nucleotide variant not provided [RCV001069341] Chr11:68365684 [GRCh38]
Chr11:68133152 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4704G>A (p.Ser1568=) single nucleotide variant not provided [RCV001207925] Chr11:68448926 [GRCh38]
Chr11:68216394 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) single nucleotide variant not provided [RCV001242947] Chr11:68425144 [GRCh38]
Chr11:68192612 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.945C>T (p.Ser315=) single nucleotide variant not provided [RCV001236459] Chr11:68365632 [GRCh38]
Chr11:68133100 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) single nucleotide variant not provided [RCV001222965] Chr11:68438602 [GRCh38]
Chr11:68206070 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter) single nucleotide variant not provided [RCV001208694] Chr11:68348197 [GRCh38]
Chr11:68115665 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) single nucleotide variant not provided [RCV001208714] Chr11:68403642 [GRCh38]
Chr11:68171110 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) single nucleotide variant not provided [RCV001227589] Chr11:68436904 [GRCh38]
Chr11:68204372 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1266G>A (p.Ala422=) single nucleotide variant not provided [RCV001053609] Chr11:68386566 [GRCh38]
Chr11:68154034 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4487C>T (p.Pro1496Leu) single nucleotide variant not provided [RCV001063515] Chr11:68439915 [GRCh38]
Chr11:68207383 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) single nucleotide variant not provided [RCV001063558] Chr11:68348113 [GRCh38]
Chr11:68115581 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4622C>G (p.Thr1541Arg) single nucleotide variant not provided [RCV001217244] Chr11:68448844 [GRCh38]
Chr11:68216312 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.116A>G (p.Asn39Ser) single nucleotide variant not provided [RCV001234512] Chr11:68347871 [GRCh38]
Chr11:68115339 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) single nucleotide variant not provided [RCV001240856] Chr11:68348180 [GRCh38]
Chr11:68115648 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.204_213del (p.Asp69fs) deletion not provided [RCV001209628] Chr11:68347959..68347968 [GRCh38]
Chr11:68115427..68115436 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.3977G>A (p.Arg1326His) single nucleotide variant not provided [RCV001209889] Chr11:68433815 [GRCh38]
Chr11:68201283 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3226G>A (p.Ala1076Thr) single nucleotide variant not provided [RCV001227983] Chr11:68423687 [GRCh38]
Chr11:68191155 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1264G>T (p.Ala422Ser) single nucleotide variant not provided [RCV001244141] Chr11:68386564 [GRCh38]
Chr11:68154032 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1338C>T (p.Asn446=) single nucleotide variant not provided [RCV000912863] Chr11:68386638 [GRCh38]
Chr11:68154106 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=) single nucleotide variant not provided [RCV000956971] Chr11:68433756 [GRCh38]
Chr11:68201224 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=) single nucleotide variant not provided [RCV000933601] Chr11:68423518 [GRCh38]
Chr11:68190986 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) single nucleotide variant not provided [RCV000912046] Chr11:68386377 [GRCh38]
Chr11:68153845 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3487C>T (p.Leu1163Phe) single nucleotide variant not provided [RCV000912048] Chr11:68426037 [GRCh38]
Chr11:68193505 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.384G>A (p.Glu128=) single nucleotide variant not provided [RCV000912235] Chr11:68348139 [GRCh38]
Chr11:68115607 [GRCh37]
Chr11:11q13.2
benign
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn) single nucleotide variant not provided [RCV000935085] Chr11:68429634 [GRCh38]
Chr11:68197102 [GRCh37]
Chr11:11q13.2
likely benign
NM_002335.4(LRP5):c.606C>A (p.Ile202=) single nucleotide variant not provided [RCV001054308] Chr11:68357767 [GRCh38]
Chr11:68125235 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val) single nucleotide variant not provided [RCV001065288] Chr11:68438581 [GRCh38]
Chr11:68206049 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4619C>T (p.Thr1540Met) single nucleotide variant Microcephaly [RCV001252809] Chr11:68448841 [GRCh38]
Chr11:68216309 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) single nucleotide variant not provided [RCV001058393] Chr11:68348163 [GRCh38]
Chr11:68115631 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) single nucleotide variant not provided [RCV001057386] Chr11:68386432 [GRCh38]
Chr11:68153900 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2091+5C>T single nucleotide variant not provided [RCV001059531] Chr11:68406818 [GRCh38]
Chr11:68174286 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.565A>C (p.Ile189Leu) single nucleotide variant not provided [RCV001060453] Chr11:68357726 [GRCh38]
Chr11:68125194 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2724C>G (p.His908Gln) single nucleotide variant not provided [RCV001064163] Chr11:68413909 [GRCh38]
Chr11:68181377 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3683G>C (p.Cys1228Ser) single nucleotide variant not provided [RCV001092908] Chr11:68429620 [GRCh38]
Chr11:68197088 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3106C>T (p.Arg1036Trp) single nucleotide variant not provided [RCV001061211] Chr11:68423567 [GRCh38]
Chr11:68191035 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1015+3G>A single nucleotide variant not provided [RCV001060503] Chr11:68365705 [GRCh38]
Chr11:68133173 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4424G>A (p.Arg1475Gln) single nucleotide variant not provided [RCV001229762] Chr11:68439852 [GRCh38]
Chr11:68207320 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4512G>A (p.Pro1504=) single nucleotide variant not provided [RCV001207601] Chr11:68446459 [GRCh38]
Chr11:68213927 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) single nucleotide variant not provided [RCV001233534] Chr11:68436924 [GRCh38]
Chr11:68204392 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4256A>G (p.Asn1419Ser) single nucleotide variant not provided [RCV001201770] Chr11:68438590 [GRCh38]
Chr11:68206058 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4097A>G (p.Asp1366Gly) single nucleotide variant not provided [RCV001237197] Chr11:68436985 [GRCh38]
Chr11:68204453 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) single nucleotide variant not provided [RCV001236918] Chr11:68413794 [GRCh38]
Chr11:68181262 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) single nucleotide variant not provided [RCV001069350] Chr11:68406769 [GRCh38]
Chr11:68174237 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) single nucleotide variant not provided [RCV001049172] Chr11:68406682 [GRCh38]
Chr11:68174150 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4462A>G (p.Ser1488Gly) single nucleotide variant not provided [RCV001069481] Chr11:68439890 [GRCh38]
Chr11:68207358 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1672A>T (p.Ile558Phe) single nucleotide variant not provided [RCV001041318] Chr11:68403570 [GRCh38]
Chr11:68171038 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) single nucleotide variant not provided [RCV001205340] Chr11:68433793 [GRCh38]
Chr11:68201261 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.250G>A (p.Glu84Lys) single nucleotide variant not provided [RCV001043314] Chr11:68348005 [GRCh38]
Chr11:68115473 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4488+4A>T single nucleotide variant not provided [RCV001051430] Chr11:68439920 [GRCh38]
Chr11:68207388 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4567G>T (p.Ala1523Ser) single nucleotide variant not provided [RCV001051436] Chr11:68446514 [GRCh38]
Chr11:68213982 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) single nucleotide variant not provided [RCV001248750] Chr11:68423489 [GRCh38]
Chr11:68190957 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.235T>C (p.Trp79Arg) single nucleotide variant not provided [RCV001237344] Chr11:68347990 [GRCh38]
Chr11:68115458 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4081T>G (p.Cys1361Gly) single nucleotide variant not provided [RCV001237345] Chr11:68436969 [GRCh38]
Chr11:68204437 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1528C>G (p.Leu510Val) single nucleotide variant not provided [RCV001035061] Chr11:68389996 [GRCh38]
Chr11:68157464 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) single nucleotide variant not provided [RCV001207841] Chr11:68436994 [GRCh38]
Chr11:68204462 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) single nucleotide variant not provided [RCV001062918] Chr11:68425256 [GRCh38]
Chr11:68192724 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) single nucleotide variant not provided [RCV001204721] Chr11:68386610 [GRCh38]
Chr11:68154078 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.493A>G (p.Met165Val) single nucleotide variant not provided [RCV001044875] Chr11:68357654 [GRCh38]
Chr11:68125122 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4320G>A (p.Pro1440=) single nucleotide variant not provided [RCV001206221] Chr11:68438654 [GRCh38]
Chr11:68206122 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3443C>T (p.Thr1148Ile) single nucleotide variant not provided [RCV001207156] Chr11:68425993 [GRCh38]
Chr11:68193461 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2450G>A (p.Arg817His) single nucleotide variant not provided [RCV001233644] Chr11:68411567 [GRCh38]
Chr11:68179035 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3904C>A (p.Gln1302Lys) single nucleotide variant not provided [RCV001230587] Chr11:68433742 [GRCh38]
Chr11:68201210 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3844G>A (p.Gly1282Ser) single nucleotide variant Polycystic liver disease 4 with or without kidney cysts [RCV001263477]|not provided [RCV001213170] Chr11:68433682 [GRCh38]
Chr11:68201150 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) single nucleotide variant not provided [RCV001038152] Chr11:68439819 [GRCh38]
Chr11:68207287 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1225A>G (p.Thr409Ala) single nucleotide variant not provided [RCV001046648] Chr11:68386525 [GRCh38]
Chr11:68153993 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) single nucleotide variant Polycystic liver disease 4 with or without kidney cysts [RCV001200880] Chr11:68409959 [GRCh38]
Chr11:68177427 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1801G>A (p.Gly601Arg) single nucleotide variant not provided [RCV001207230] Chr11:68403699 [GRCh38]
Chr11:68171167 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.494T>C (p.Met165Thr) single nucleotide variant not provided [RCV001039053] Chr11:68357655 [GRCh38]
Chr11:68125123 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) single nucleotide variant not provided [RCV001228704] Chr11:68433758 [GRCh38]
Chr11:68201226 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) single nucleotide variant not provided [RCV001228765] Chr11:68438560 [GRCh38]
Chr11:68206028 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2101C>T (p.Arg701Cys) single nucleotide variant not provided [RCV001068297] Chr11:68409923 [GRCh38]
Chr11:68177391 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.213G>C (p.Gln71His) single nucleotide variant not provided [RCV001036257] Chr11:68347968 [GRCh38]
Chr11:68115436 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1861dup (p.His621fs) duplication not provided [RCV001171656] Chr11:68406579..68406580 [GRCh38]
Chr11:68174047..68174048 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.4031C>T (p.Ala1344Val) single nucleotide variant not provided [RCV001230226] Chr11:68436919 [GRCh38]
Chr11:68204387 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) single nucleotide variant not provided [RCV001038127] Chr11:68438502 [GRCh38]
Chr11:68205970 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) single nucleotide variant not provided [RCV001202023] Chr11:68409945 [GRCh38]
Chr11:68177413 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4452del (p.Ser1484fs) deletion Retinal dystrophy [RCV001073627] Chr11:68439880 [GRCh38]
Chr11:68207348 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.698T>A (p.Val233Glu) single nucleotide variant Retinal dystrophy [RCV001073742] Chr11:68363758 [GRCh38]
Chr11:68131226 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.3637+5G>A single nucleotide variant not provided [RCV001202608] Chr11:68426192 [GRCh38]
Chr11:68193660 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2323A>T (p.Ile775Phe) single nucleotide variant not provided [RCV001228412] Chr11:68411440 [GRCh38]
Chr11:68178908 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2719A>G (p.Met907Val) single nucleotide variant not provided [RCV001039798] Chr11:68413904 [GRCh38]
Chr11:68181372 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4499C>T (p.Pro1500Leu) single nucleotide variant not provided [RCV001213705] Chr11:68446446 [GRCh38]
Chr11:68213914 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) microsatellite not provided [RCV001203297] Chr11:68406712..68406714 [GRCh38]
Chr11:68174180..68174182 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.695T>C (p.Val232Ala) single nucleotide variant not provided [RCV001041418] Chr11:68363755 [GRCh38]
Chr11:68131223 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4328C>A (p.Ser1443Tyr) single nucleotide variant Exudative vitreoretinopathy 4 [RCV001197836] Chr11:68438662 [GRCh38]
Chr11:68206130 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.493A>C (p.Met165Leu) single nucleotide variant not provided [RCV001246040] Chr11:68357654 [GRCh38]
Chr11:68125122 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys) single nucleotide variant not provided [RCV001066634] Chr11:68386621 [GRCh38]
Chr11:68154089 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_002335.4(LRP5):c.1412+1G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001270175] Chr11:68386713 [GRCh38]
Chr11:68154181 [GRCh37]
Chr11:11q13.2
pathogenic
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) single nucleotide variant Polycystic liver disease 4 with or without kidney cysts [RCV001280820] Chr11:68425163 [GRCh38]
Chr11:68192631 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) deletion Inborn genetic diseases [RCV001266430] Chr11:68439871..68439882 [GRCh38]
Chr11:68207339..68207350 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_002335.4(LRP5):c.2666_2667del (p.Val889fs) deletion not provided [RCV001269836] Chr11:68413850..68413851 [GRCh38]
Chr11:68181318..68181319 [GRCh37]
Chr11:11q13.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6697 AgrOrtholog
COSMIC LRP5 COSMIC
Ensembl Genes ENSG00000162337 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000294304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435315 UniProtKB/TrEMBL
  ENSP00000436652 UniProtKB/TrEMBL
Ensembl Transcript ENST00000294304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529702 UniProtKB/TrEMBL
  ENST00000529993 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot
GTEx ENSG00000162337 GTEx
HGNC ID HGNC:6697 ENTREZGENE
Human Proteome Map LRP5 Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot
  LDL_receptor-like_sf UniProtKB/Swiss-Prot
  LDLR_class-A_CS UniProtKB/Swiss-Prot
  LDLR_classB_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot
  LRP5/6 UniProtKB/Swiss-Prot
KEGG Report hsa:4041 UniProtKB/Swiss-Prot
NCBI Gene 4041 ENTREZGENE
OMIM 144750 OMIM
  166710 OMIM
  259770 OMIM
  601813 OMIM
  601884 OMIM
  603506 OMIM
  607634 OMIM
  607636 OMIM
  617875 OMIM
Pfam Ldl_recept_a UniProtKB/Swiss-Prot
  Ldl_recept_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30455 PharmGKB
PIRSF LDL_recpt-rel_p5/6 UniProtKB/Swiss-Prot
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot
PROSITE LDLRA_1 UniProtKB/Swiss-Prot
  LDLRA_2 UniProtKB/Swiss-Prot
  LDLRB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot
  LDLa UniProtKB/Swiss-Prot
  SM00135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57424 UniProtKB/Swiss-Prot
UniProt A0A1P8NQD0_HUMAN UniProtKB/TrEMBL
  A0A1P8NQD1_HUMAN UniProtKB/TrEMBL
  A0A1P8NQE2_HUMAN UniProtKB/TrEMBL
  E9PHY1_HUMAN UniProtKB/TrEMBL
  H0YE98_HUMAN UniProtKB/TrEMBL
  LRP5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96TD6 UniProtKB/Swiss-Prot
  Q9UES7 UniProtKB/Swiss-Prot
  Q9UP66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 LRP5  LDL receptor related protein 5    low density lipoprotein receptor-related protein 5  Symbol and/or name change 5135510 APPROVED