VLDLR (very low density lipoprotein receptor) - Rat Genome Database

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Gene: VLDLR (very low density lipoprotein receptor) Homo sapiens
Analyze
Symbol: VLDLR
Name: very low density lipoprotein receptor
RGD ID: 733926
HGNC Page HGNC
Description: Exhibits several functions, including apolipoprotein binding activity; very-low-density lipoprotein particle binding activity; and very-low-density lipoprotein particle receptor activity. Involved in glycoprotein transport; receptor-mediated endocytosis; and very-low-density lipoprotein particle clearance. Localizes to membrane and receptor complex. Implicated in Alzheimer's disease; cerebellar ataxia, mental retardation and dysequlibrium syndrome; and dementia. Biomarker of autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAMRQ1; CARMQ1; CHRMQ1; FLJ35024; very low-density lipoprotein receptor; VLDL receptor; VLDL-R; VLDLRCH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100421006  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl92,621,182 - 2,660,056 (+)EnsemblGRCh38hg38GRCh38
GRCh3892,621,786 - 2,660,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3792,621,787 - 2,660,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3692,611,793 - 2,644,485 (+)NCBINCBI36hg18NCBI36
Build 3492,611,802 - 2,644,478NCBI
Celera92,540,058 - 2,572,749 (+)NCBI
Cytogenetic Map9p24.2NCBI
HuRef92,576,882 - 2,609,583 (+)NCBIHuRef
CHM1_192,622,136 - 2,654,832 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
AM-251  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
ampicillin  (EXP)
androgen antagonist  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
casticin  (ISO)
chlorpyrifos  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cypermethrin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
fluoxetine  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
fructose  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (EXP)
geldanamycin  (ISO)
gemcitabine  (EXP)
genistein  (ISO)
geraniol  (ISO)
haloperidol  (ISO)
herbimycin  (ISO)
hexaconazole  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indometacin  (ISO)
irinotecan  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
ochratoxin A  (EXP)
olanzapine  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP,ISO)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
prednisolone  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
radicicol  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
succimer  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7592875   PMID:7797576   PMID:7828550   PMID:8020981   PMID:8069294   PMID:8083232   PMID:8128315   PMID:8294473   PMID:9132912   PMID:9555943   PMID:9630508   PMID:10380922  
PMID:10391209   PMID:10571240   PMID:10571241   PMID:10629142   PMID:10827173   PMID:11266465   PMID:11931574   PMID:12167620   PMID:12169628   PMID:12363388   PMID:12477932   PMID:12670700  
PMID:12824284   PMID:12857919   PMID:12899622   PMID:14702039   PMID:14724251   PMID:15064754   PMID:15082773   PMID:15164053   PMID:15718228   PMID:15863833   PMID:15950758   PMID:15950998  
PMID:15953542   PMID:16046028   PMID:16080122   PMID:16344560   PMID:16384981   PMID:16481437   PMID:17330141   PMID:17472347   PMID:17548821   PMID:17854420   PMID:17890782   PMID:17936586  
PMID:18032585   PMID:18039658   PMID:18043714   PMID:18056683   PMID:18277139   PMID:18326629   PMID:18364738   PMID:18685438   PMID:19015224   PMID:19224153   PMID:19393635   PMID:19913121  
PMID:20005821   PMID:20223215   PMID:20301729   PMID:20624392   PMID:20628086   PMID:21047397   PMID:21063833   PMID:21601501   PMID:21642441   PMID:21734303   PMID:21757650   PMID:21844191  
PMID:22005931   PMID:22109552   PMID:22170052   PMID:22189190   PMID:22355348   PMID:22419519   PMID:22532556   PMID:22780124   PMID:22876580   PMID:22973972   PMID:23185271   PMID:23382219  
PMID:23670308   PMID:23701949   PMID:23811271   PMID:23813796   PMID:24076391   PMID:24097068   PMID:24662412   PMID:24733846   PMID:24844606   PMID:24903309   PMID:26153297   PMID:26439863  
PMID:26699506   PMID:27000652   PMID:27108886   PMID:28112443   PMID:28255385   PMID:28437098   PMID:28484035   PMID:28514442   PMID:29042132   PMID:29371607   PMID:29507755   PMID:29965730  
PMID:30873003   PMID:31078566   PMID:31405227   PMID:31586073   PMID:31753913   PMID:32296183  


Genomics

Candidate Gene Status
VLDLR is a candidate Gene for QTL BW137_H
Comparative Map Data
VLDLR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl92,621,182 - 2,660,056 (+)EnsemblGRCh38hg38GRCh38
GRCh3892,621,786 - 2,660,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3792,621,787 - 2,660,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3692,611,793 - 2,644,485 (+)NCBINCBI36hg18NCBI36
Build 3492,611,802 - 2,644,478NCBI
Celera92,540,058 - 2,572,749 (+)NCBI
Cytogenetic Map9p24.2NCBI
HuRef92,576,882 - 2,609,583 (+)NCBIHuRef
CHM1_192,622,136 - 2,654,832 (+)NCBICHM1_1
Vldlr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391927,190,070 - 27,231,631 (+)NCBIGRCm39mm39
GRCm39 Ensembl1927,193,884 - 27,231,631 (+)Ensembl
GRCm381927,216,480 - 27,254,231 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1927,216,484 - 27,254,231 (+)EnsemblGRCm38mm10GRCm38
MGSCv371927,291,510 - 27,328,721 (+)NCBIGRCm37mm9NCBIm37
MGSCv361927,284,529 - 27,316,717 (+)NCBImm8
Celera1928,001,119 - 28,038,314 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1921.77NCBI
Vldlr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21224,813,539 - 224,850,400 (+)NCBI
Rnor_6.0 Ensembl1245,237,736 - 245,269,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01245,236,819 - 245,273,688 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01252,485,275 - 252,523,202 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41230,666,736 - 230,697,748 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11230,830,758 - 230,861,771 (+)NCBI
Celera1222,002,111 - 222,033,270 (+)NCBICelera
RH 3.4 Map11610.4RGD
Cytogenetic Map1q52NCBI
Vldlr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554347,013,092 - 7,050,103 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554347,013,092 - 7,050,103 (+)NCBIChiLan1.0ChiLan1.0
VLDLR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.192,621,325 - 2,653,980 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl92,621,199 - 2,653,980 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v092,428,639 - 2,463,796 (+)NCBIMhudiblu_PPA_v0panPan3
VLDLR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1191,242,010 - 91,277,030 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl191,241,509 - 91,272,495 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha191,709,985 - 91,740,404 (+)NCBI
ROS_Cfam_1.0191,786,552 - 91,821,587 (+)NCBI
UMICH_Zoey_3.1191,433,922 - 91,464,358 (+)NCBI
UNSW_CanFamBas_1.0191,145,967 - 91,176,393 (+)NCBI
UU_Cfam_GSD_1.0191,920,678 - 91,951,114 (+)NCBI
Vldlr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947138,732,746 - 138,766,426 (+)NCBI
SpeTri2.0NW_0049365032,407,040 - 2,440,366 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VLDLR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1219,173,504 - 219,210,343 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11219,178,501 - 219,210,332 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21245,001,226 - 245,032,858 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VLDLR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11276,900,551 - 76,933,601 (-)NCBI
ChlSab1.1 Ensembl1276,899,189 - 76,933,584 (-)Ensembl
Vero_WHO_p1.0NW_02366603865,238,161 - 65,273,396 (-)NCBI
Vldlr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247367,280,478 - 7,316,897 (+)NCBI

Position Markers
GDB:631759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,643,708 - 2,643,898UniSTSGRCh37
Build 3692,633,708 - 2,633,898RGDNCBI36
Celera92,561,972 - 2,562,162RGD
Cytogenetic Map9p24UniSTS
HuRef92,598,803 - 2,598,993UniSTS
GDB:631760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,643,725 - 2,643,882UniSTSGRCh37
Build 3692,633,725 - 2,633,882RGDNCBI36
Celera92,561,989 - 2,562,146RGD
Cytogenetic Map9p24UniSTS
HuRef92,598,820 - 2,598,977UniSTS
SHGC-146930  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,599,714 - 2,599,994UniSTSGRCh37
Build 3692,589,714 - 2,589,994RGDNCBI36
Celera92,517,978 - 2,518,258RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,554,801 - 2,555,081UniSTS
TNG Radiation Hybrid Map91075.0UniSTS
A009P01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,423,960 - 2,424,102UniSTSGRCh37
Build 3692,413,960 - 2,414,102RGDNCBI36
Celera92,342,194 - 2,342,336RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,378,434 - 2,378,576UniSTS
GeneMap99-GB4 RH Map918.57UniSTS
SHGC-155211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,424,201 - 2,424,492UniSTSGRCh37
Build 3692,414,201 - 2,414,492RGDNCBI36
Celera92,342,435 - 2,342,726RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,378,675 - 2,378,966UniSTS
TNG Radiation Hybrid Map91155.0UniSTS
WI-18746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,653,934 - 2,654,083UniSTSGRCh37
Build 3692,643,934 - 2,644,083RGDNCBI36
Celera92,572,198 - 2,572,347RGD
Cytogenetic Map9p24UniSTS
HuRef92,609,032 - 2,609,181UniSTS
GeneMap99-GB4 RH Map922.01UniSTS
Whitehead-RH Map930.0UniSTS
RH17486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,423,899 - 2,424,108UniSTSGRCh37
Build 3692,413,899 - 2,414,108RGDNCBI36
Celera92,342,133 - 2,342,342RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,378,373 - 2,378,582UniSTS
GeneMap99-GB4 RH Map918.57UniSTS
RH16191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,535,820 - 2,535,939UniSTSGRCh37
Build 3692,525,820 - 2,525,939RGDNCBI36
Celera92,454,051 - 2,454,170RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,490,418 - 2,490,537UniSTS
GeneMap99-GB4 RH Map919.95UniSTS
A009Q38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,535,797 - 2,535,914UniSTSGRCh37
Build 3692,525,797 - 2,525,914RGDNCBI36
Celera92,454,028 - 2,454,145RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,490,395 - 2,490,512UniSTS
GeneMap99-GB4 RH Map919.95UniSTS
SHGC-12535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,653,899 - 2,654,234UniSTSGRCh37
Build 3692,643,899 - 2,644,234RGDNCBI36
Celera92,572,163 - 2,572,498RGD
Cytogenetic Map9p24UniSTS
HuRef92,608,997 - 2,609,332UniSTS
Stanford-G3 RH Map937.0UniSTS
NCBI RH Map921.2UniSTS
GeneMap99-G3 RH Map937.0UniSTS
SHGC-34403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,535,708 - 2,535,818UniSTSGRCh37
Build 3692,525,708 - 2,525,818RGDNCBI36
Celera92,453,940 - 2,454,049RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,490,307 - 2,490,416UniSTS
Stanford-G3 RH Map948.0UniSTS
GeneMap99-GB4 RH Map919.95UniSTS
Whitehead-RH Map930.0UniSTS
NCBI RH Map925.4UniSTS
GeneMap99-G3 RH Map948.0UniSTS
SHGC-34405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,423,890 - 2,424,020UniSTSGRCh37
Build 3692,413,890 - 2,414,020RGDNCBI36
Celera92,342,124 - 2,342,254RGD
Cytogenetic Map9p24.2UniSTS
HuRef92,378,364 - 2,378,494UniSTS
GeneMap99-GB4 RH Map920.89UniSTS
Whitehead-RH Map928.0UniSTS
GeneMap99-G3 RH Map937.0UniSTS
G32721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,423,960 - 2,424,102UniSTSGRCh37
Celera92,342,194 - 2,342,336UniSTS
Cytogenetic Map9p24.2UniSTS
HuRef92,378,434 - 2,378,576UniSTS
G32789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,535,797 - 2,535,914UniSTSGRCh37
Celera92,454,028 - 2,454,145UniSTS
Cytogenetic Map9p24.2UniSTS
HuRef92,490,395 - 2,490,512UniSTS
VLDLR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3792,647,570 - 2,648,336UniSTSGRCh37
Celera92,565,834 - 2,566,600UniSTS
HuRef92,602,668 - 2,603,434UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2952
Count of miRNA genes:1059
Interacting mature miRNAs:1315
Transcripts:ENST00000382096, ENST00000382099, ENST00000382100, ENST00000478776
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 453 1536 657 49 194 18 1425 1076 514 225 545 878 32 433 1017 3
Low 1883 954 881 391 1040 262 2929 1116 3196 192 907 724 141 1 771 1771 3 2
Below cutoff 83 498 184 181 688 181 3 5 23 2 7 9 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA758887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA386669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ067198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L20470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L22431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000382096   ⟹   ENSP00000371528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,621,975 - 2,643,355 (+)Ensembl
RefSeq Acc Id: ENST00000382099   ⟹   ENSP00000371531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,100 - 2,654,480 (+)Ensembl
RefSeq Acc Id: ENST00000382100   ⟹   ENSP00000371532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,621,787 - 2,660,056 (+)Ensembl
RefSeq Acc Id: ENST00000478776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,646,338 - 2,647,768 (+)Ensembl
RefSeq Acc Id: ENST00000679488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,647,281 - 2,652,096 (+)Ensembl
RefSeq Acc Id: ENST00000679718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,644,535 - 2,652,875 (+)Ensembl
RefSeq Acc Id: ENST00000679750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,644,355 - 2,655,993 (+)Ensembl
RefSeq Acc Id: ENST00000679780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,647,610 - 2,654,206 (+)Ensembl
RefSeq Acc Id: ENST00000679851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,205 - 2,654,482 (+)Ensembl
RefSeq Acc Id: ENST00000680021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,445 - 2,653,921 (+)Ensembl
RefSeq Acc Id: ENST00000680043   ⟹   ENSP00000505223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,643,160 - 2,656,103 (+)Ensembl
RefSeq Acc Id: ENST00000680150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,643,714 - 2,645,065 (+)Ensembl
RefSeq Acc Id: ENST00000680219   ⟹   ENSP00000506614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,643,160 - 2,650,516 (+)Ensembl
RefSeq Acc Id: ENST00000680243   ⟹   ENSP00000505911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,135 - 2,654,404 (+)Ensembl
RefSeq Acc Id: ENST00000680296   ⟹   ENSP00000506448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,643,160 - 2,650,516 (+)Ensembl
RefSeq Acc Id: ENST00000680332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,644,688 - 2,655,934 (+)Ensembl
RefSeq Acc Id: ENST00000680440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,648,567 - 2,654,239 (+)Ensembl
RefSeq Acc Id: ENST00000680745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,650,782 - 2,656,103 (+)Ensembl
RefSeq Acc Id: ENST00000680746   ⟹   ENSP00000505030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,621,567 - 2,655,931 (+)Ensembl
RefSeq Acc Id: ENST00000680751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,644,366 - 2,654,632 (+)Ensembl
RefSeq Acc Id: ENST00000680891   ⟹   ENSP00000505167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,621,803 - 2,654,409 (+)Ensembl
RefSeq Acc Id: ENST00000680975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,644,386 - 2,654,282 (+)Ensembl
RefSeq Acc Id: ENST00000681087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,644,326 - 2,650,626 (+)Ensembl
RefSeq Acc Id: ENST00000681306   ⟹   ENSP00000506072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,053 - 2,656,916 (+)Ensembl
RefSeq Acc Id: ENST00000681486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,648,607 - 2,654,484 (+)Ensembl
RefSeq Acc Id: ENST00000681518   ⟹   ENSP00000505018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,651,874 - 2,660,056 (+)Ensembl
RefSeq Acc Id: ENST00000681618   ⟹   ENSP00000505773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,110 - 2,656,039 (+)Ensembl
RefSeq Acc Id: ENST00000681644   ⟹   ENSP00000505180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,621,787 - 2,656,039 (+)Ensembl
RefSeq Acc Id: ENST00000681770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,202 - 2,641,950 (+)Ensembl
RefSeq Acc Id: ENST00000681806   ⟹   ENSP00000505282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,622,041 - 2,654,485 (+)Ensembl
RefSeq Acc Id: ENST00000681876   ⟹   ENSP00000506174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,651,874 - 2,655,931 (+)Ensembl
RefSeq Acc Id: ENST00000681942   ⟹   ENSP00000505430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl92,643,160 - 2,654,465 (+)Ensembl
RefSeq Acc Id: NM_001018056   ⟹   NP_001018066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,787 - 2,660,056 (+)NCBI
GRCh3792,621,679 - 2,654,485 (+)NCBI
Build 3692,611,793 - 2,644,485 (+)NCBI Archive
HuRef92,576,882 - 2,609,583 (+)ENTREZGENE
CHM1_192,622,117 - 2,656,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322225   ⟹   NP_001309154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,787 - 2,660,056 (+)NCBI
CHM1_192,622,117 - 2,656,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322226   ⟹   NP_001309155
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,787 - 2,660,056 (+)NCBI
CHM1_192,622,117 - 2,656,450 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003383   ⟹   NP_003374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,787 - 2,660,056 (+)NCBI
GRCh3792,621,679 - 2,654,485 (+)NCBI
Build 3692,611,793 - 2,644,485 (+)NCBI Archive
HuRef92,576,882 - 2,609,583 (+)ENTREZGENE
CHM1_192,622,117 - 2,656,450 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746373
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,786 - 2,654,485 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956805
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,786 - 2,654,485 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003374   ⟸   NM_003383
- Peptide Label: isoform a precursor
- UniProtKB: P98155 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001018066   ⟸   NM_001018056
- Peptide Label: isoform b precursor
- UniProtKB: P98155 (UniProtKB/Swiss-Prot),   Q5VVF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309154   ⟸   NM_001322225
- Peptide Label: isoform c precursor
- Sequence:
RefSeq Acc Id: NP_001309155   ⟸   NM_001322226
- Peptide Label: isoform d precursor
- Sequence:
RefSeq Acc Id: ENSP00000371531   ⟸   ENST00000382099
RefSeq Acc Id: ENSP00000371528   ⟸   ENST00000382096
RefSeq Acc Id: ENSP00000371532   ⟸   ENST00000382100
RefSeq Acc Id: ENSP00000505773   ⟸   ENST00000681618
RefSeq Acc Id: ENSP00000505223   ⟸   ENST00000680043
RefSeq Acc Id: ENSP00000506448   ⟸   ENST00000680296
RefSeq Acc Id: ENSP00000505030   ⟸   ENST00000680746
RefSeq Acc Id: ENSP00000505911   ⟸   ENST00000680243
RefSeq Acc Id: ENSP00000505282   ⟸   ENST00000681806
RefSeq Acc Id: ENSP00000505167   ⟸   ENST00000680891
RefSeq Acc Id: ENSP00000505180   ⟸   ENST00000681644
RefSeq Acc Id: ENSP00000505430   ⟸   ENST00000681942
RefSeq Acc Id: ENSP00000506614   ⟸   ENST00000680219
RefSeq Acc Id: ENSP00000505018   ⟸   ENST00000681518
RefSeq Acc Id: ENSP00000506072   ⟸   ENST00000681306
RefSeq Acc Id: ENSP00000506174   ⟸   ENST00000681876
Protein Domains
EGF-like   LDL-receptor class A

Promoters
RGD ID:6807582
Promoter ID:HG_KWN:62450
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000382092,   ENST00000382096,   ENST00000382131,   ENST00000397921,   NM_001018056,   NM_003383,   OTTHUMT00000051524,   UC003ZHH.1,   UC003ZHM.1,   UC003ZHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,611,176 - 2,611,797 (+)MPROMDB
RGD ID:6850212
Promoter ID:EP48005
Type:single initiation site
Name:HS_VLDLR
Description:Very low density lipoprotein receptor, VLDLR gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:heart, muscle, adipose tissue,.
Experiment Methods:Nuclease protection; Sequencing of a full-length cDNA; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3692,611,574 - 2,611,634EPD
RGD ID:7214567
Promoter ID:EPDNEW_H13029
Type:initiation region
Name:VLDLR_3
Description:very low density lipoprotein receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13030  EPDNEW_H13031  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,574 - 2,621,634EPDNEW
RGD ID:7214569
Promoter ID:EPDNEW_H13030
Type:initiation region
Name:VLDLR_1
Description:very low density lipoprotein receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13029  EPDNEW_H13031  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,621,787 - 2,621,847EPDNEW
RGD ID:7214571
Promoter ID:EPDNEW_H13031
Type:initiation region
Name:VLDLR_2
Description:very low density lipoprotein receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13029  EPDNEW_H13030  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3892,622,135 - 2,622,195EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_012741.1:g.(?_5001)_(37693_?)del deletion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000012984] Chr9:2621793..2654485 [GRCh38]
Chr9:2621793..2654485 [GRCh37]
Chr9:9p24.2
pathogenic
NM_003383.5(VLDLR):c.1041_1045del (p.Trp347_Asp349delinsTer) deletion not provided [RCV000519856] Chr9:2643932..2643936 [GRCh38]
Chr9:2643932..2643936 [GRCh37]
Chr9:9p24.2
pathogenic
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) single nucleotide variant Cerebellar ataxia and mental retardation with quadrupedal locomotion 1 [RCV000012985]|Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000020557] Chr9:2643480 [GRCh38]
Chr9:2643480 [GRCh37]
Chr9:9p24.2
pathogenic
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) deletion Cerebellar ataxia and mental retardation with quadrupedal locomotion 1 [RCV000012986]|Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000020556] Chr9:2651877 [GRCh38]
Chr9:2651877 [GRCh37]
Chr9:9p24.2
pathogenic
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000020555] Chr9:2645603 [GRCh38]
Chr9:2645603 [GRCh37]
Chr9:9p24.2
pathogenic
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) deletion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000049269] Chr9:2645017..2645023 [GRCh38]
Chr9:2645017..2645023 [GRCh37]
Chr9:9p24.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.2(chr9:2267812-2684272)x3 copy number gain See cases [RCV000050933] Chr9:2267812..2684272 [GRCh38]
Chr9:2267812..2684272 [GRCh37]
Chr9:2257812..2674272 [NCBI36]
Chr9:9p24.2
uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 copy number loss See cases [RCV000051039] Chr9:220253..3793376 [GRCh38]
Chr9:220253..3793376 [GRCh37]
Chr9:210253..3783376 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:1998911-2925112)x3 copy number gain See cases [RCV000052217] Chr9:1998911..2925112 [GRCh38]
Chr9:1998911..2925112 [GRCh37]
Chr9:1988911..2915112 [NCBI36]
Chr9:9p24.3-24.2
uncertain significance
GRCh38/hg38 9p24.2(chr9:2452325-2700375)x1 copy number loss See cases [RCV000052849] Chr9:2452325..2700375 [GRCh38]
Chr9:2452325..2700375 [GRCh37]
Chr9:2442325..2690375 [NCBI36]
Chr9:9p24.2
uncertain significance
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1 copy number loss See cases [RCV000052859] Chr9:220253..5140455 [GRCh38]
Chr9:220253..5140455 [GRCh37]
Chr9:210253..5130455 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1 copy number loss See cases [RCV000052862] Chr9:280255..3905421 [GRCh38]
Chr9:280255..3905421 [GRCh37]
Chr9:270255..3895421 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3 copy number gain See cases [RCV000053705] Chr9:204193..3468435 [GRCh38]
Chr9:204193..3468435 [GRCh37]
Chr9:194193..3458435 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203993-4164349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] Chr9:203993..4164349 [GRCh38]
Chr9:203993..4164349 [GRCh37]
Chr9:193993..4154349 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23
pathogenic
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000054559] Chr9:2650382 [GRCh38]
Chr9:2650382 [GRCh37]
Chr9:9p24.2
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003383.5(VLDLR):c.292G>A (p.Glu98Lys) single nucleotide variant not provided [RCV000118825] Chr9:2639948 [GRCh38]
Chr9:2639948 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) single nucleotide variant not provided [RCV000882448]|not specified [RCV000118814] Chr9:2643175 [GRCh38]
Chr9:2643175 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.1187-3C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168015]|Congenital cerebellar hypoplasia [RCV000313450]|not specified [RCV000118815] Chr9:2644954 [GRCh38]
Chr9:2644954 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001334134]|not provided [RCV000902178]|not specified [RCV000118816] Chr9:2645574 [GRCh38]
Chr9:2645574 [GRCh37]
Chr9:9p24.2
benign|likely benign|uncertain significance
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168017]|Congenital cerebellar hypoplasia [RCV000370518]|not specified [RCV000118817] Chr9:2645719 [GRCh38]
Chr9:2645719 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168020]|Congenital cerebellar hypoplasia [RCV000298244]|not provided [RCV000767000]|not specified [RCV000118818] Chr9:2646492 [GRCh38]
Chr9:2646492 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167940]|Congenital cerebellar hypoplasia [RCV000333724]|not specified [RCV000118819] Chr9:2635545 [GRCh38]
Chr9:2635545 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168793]|Congenital cerebellar hypoplasia [RCV000380151]|not provided [RCV000953148]|not specified [RCV000118820] Chr9:2648747 [GRCh38]
Chr9:2648747 [GRCh37]
Chr9:9p24.2
benign|uncertain significance
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165898]|Congenital cerebellar hypoplasia [RCV000285729]|not specified [RCV000118821] Chr9:2648773 [GRCh38]
Chr9:2648773 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000755656]|not provided [RCV000885664]|not specified [RCV000118822] Chr9:2651454 [GRCh38]
Chr9:2651454 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.2416+8G>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167472]|Congenital cerebellar hypoplasia [RCV000376598]|not specified [RCV000118823] Chr9:2651962 [GRCh38]
Chr9:2651962 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167937]|Congenital cerebellar hypoplasia [RCV000311900]|not provided [RCV000954405]|not specified [RCV000118824] Chr9:2622213 [GRCh38]
Chr9:2622213 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169797]|Congenital cerebellar hypoplasia [RCV000261481]|not provided [RCV000895969]|not specified [RCV000118826] Chr9:2643179 [GRCh38]
Chr9:2643179 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.82+7G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167939]|Congenital cerebellar hypoplasia [RCV000276346]|not specified [RCV000118827] Chr9:2622278 [GRCh38]
Chr9:2622278 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167399]|Intellectual disability [RCV001252624]|not provided [RCV000118828]|not specified [RCV000488918] Chr9:2643709 [GRCh38]
Chr9:2643709 [GRCh37]
Chr9:9p24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003383.5(VLDLR):c.944-5T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167401]|Congenital cerebellar hypoplasia [RCV000348298]|not provided [RCV000956694]|not specified [RCV000118829] Chr9:2643832 [GRCh38]
Chr9:2643832 [GRCh37]
Chr9:9p24.2
benign|likely benign
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000764831]|Congenital cerebellar hypoplasia [RCV000270534]|not provided [RCV000723635]|not specified [RCV000194482] Chr9:2648286 [GRCh38]
Chr9:2648286 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.2(chr9:2413996-2711186)x3 copy number gain See cases [RCV000134371] Chr9:2413996..2711186 [GRCh38]
Chr9:2413996..2711186 [GRCh37]
Chr9:2403996..2701186 [NCBI36]
Chr9:9p24.2
benign
GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1 copy number loss See cases [RCV000134138] Chr9:204193..4210335 [GRCh38]
Chr9:204193..4210335 [GRCh37]
Chr9:194193..4200335 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 copy number loss See cases [RCV000137259] Chr9:204104..3367760 [GRCh38]
Chr9:204104..3367760 [GRCh37]
Chr9:194104..3357760 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1 copy number loss See cases [RCV000137914] Chr9:204104..3755031 [GRCh38]
Chr9:204104..3755031 [GRCh37]
Chr9:194104..3745031 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.2(chr9:2430846-2826706)x1 copy number loss See cases [RCV000139326] Chr9:2430846..2826706 [GRCh38]
Chr9:2430846..2826706 [GRCh37]
Chr9:2420846..2816706 [NCBI36]
Chr9:9p24.2
likely benign
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:1845513-3022547)x3 copy number gain See cases [RCV000140756] Chr9:1845513..3022547 [GRCh38]
Chr9:1845513..3022547 [GRCh37]
Chr9:1835513..3012547 [NCBI36]
Chr9:9p24.3-24.2
uncertain significance
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1 copy number loss See cases [RCV000142301] Chr9:203861..4585050 [GRCh38]
Chr9:203861..4585050 [GRCh37]
Chr9:193861..4575050 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 copy number gain See cases [RCV000142816] Chr9:204090..4970154 [GRCh38]
Chr9:204090..4970154 [GRCh37]
Chr9:194090..4960154 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1 copy number loss See cases [RCV000142630] Chr9:266045..3346702 [GRCh38]
Chr9:266045..3346702 [GRCh37]
Chr9:256045..3336702 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
NM_003383.5(VLDLR):c.1782G>A (p.Leu594=) single nucleotide variant not specified [RCV000192425] Chr9:2647552 [GRCh38]
Chr9:2647552 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.494G>A (p.Arg165His) single nucleotide variant not specified [RCV000192578] Chr9:2643205 [GRCh38]
Chr9:2643205 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.83-1G>A single nucleotide variant Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 [RCV000192834] Chr9:2635452 [GRCh38]
Chr9:2635452 [GRCh37]
Chr9:9p24.2
pathogenic
NM_003383.5(VLDLR):c.746G>A (p.Gly249Asp) single nucleotide variant not specified [RCV000192747] Chr9:2643457 [GRCh38]
Chr9:2643457 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168790]|Congenital cerebellar hypoplasia [RCV000359068]|not provided [RCV000658403]|not specified [RCV000193084] Chr9:2648223 [GRCh38]
Chr9:2648223 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1162C>T (p.Leu388=) single nucleotide variant not provided [RCV000947151]|not specified [RCV000193094] Chr9:2644829 [GRCh38]
Chr9:2644829 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003383.5(VLDLR):c.583G>A (p.Ala195Thr) single nucleotide variant not specified [RCV000193692] Chr9:2643294 [GRCh38]
Chr9:2643294 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167402]|not provided [RCV000902053]|not specified [RCV000193847] Chr9:2643847 [GRCh38]
Chr9:2643847 [GRCh37]
Chr9:9p24.2
benign|likely benign|uncertain significance
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168018]|Congenital cerebellar hypoplasia [RCV000397896]|not specified [RCV000194505] Chr9:2646381 [GRCh38]
Chr9:2646381 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.315A>G (p.Pro105=) single nucleotide variant not specified [RCV000194564] Chr9:2639971 [GRCh38]
Chr9:2639971 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165827]|Congenital cerebellar hypoplasia [RCV000379212]|not specified [RCV000194738] Chr9:2643443 [GRCh38]
Chr9:2643443 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165829]|Congenital cerebellar hypoplasia [RCV000287225]|not provided [RCV000766697]|not specified [RCV000194802] Chr9:2643503 [GRCh38]
Chr9:2643503 [GRCh37]
Chr9:9p24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His) single nucleotide variant not specified [RCV000195074] Chr9:2644799 [GRCh38]
Chr9:2644799 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2322A>T (p.Gly774=) single nucleotide variant not specified [RCV000192513] Chr9:2651485 [GRCh38]
Chr9:2651485 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.75C>T (p.Thr25=) single nucleotide variant not provided [RCV000904884]|not specified [RCV000194158] Chr9:2622264 [GRCh38]
Chr9:2622264 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) single nucleotide variant Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 [RCV000193524] Chr9:2622191 [GRCh38]
Chr9:2622191 [GRCh37]
Chr9:9p24.2
likely pathogenic
NM_003383.5(VLDLR):c.1586G>A (p.Trp529Ter) single nucleotide variant not provided [RCV000255297] Chr9:2646435 [GRCh38]
Chr9:2646435 [GRCh37]
Chr9:9p24.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169802]|Congenital cerebellar hypoplasia [RCV000283835]|not provided [RCV000893463] Chr9:2643293 [GRCh38]
Chr9:2643293 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168788]|Congenital cerebellar hypoplasia [RCV000320640]|not provided [RCV000969555] Chr9:2647561 [GRCh38]
Chr9:2647561 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167938]|Congenital cerebellar hypoplasia [RCV000368967]|not specified [RCV000502189] Chr9:2622260 [GRCh38]
Chr9:2622260 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.449-12C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169796]|Congenital cerebellar hypoplasia [RCV000372010] Chr9:2643148 [GRCh38]
Chr9:2643148 [GRCh37]
Chr9:9p24.2
benign|uncertain significance
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168791]|Congenital cerebellar hypoplasia [RCV000325553]|not provided [RCV000487798] Chr9:2648672 [GRCh38]
Chr9:2648672 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-335C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165750]|Congenital cerebellar hypoplasia [RCV000271545] Chr9:2621855 [GRCh38]
Chr9:2621855 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-42_-40GGC[9] microsatellite Congenital cerebellar hypoplasia [RCV000338938]|not specified [RCV000289387] Chr9:2622146..2622147 [GRCh38]
Chr9:2622146..2622147 [GRCh37]
Chr9:9p24.2
likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.540C>T (p.Ser180=) single nucleotide variant Congenital cerebellar hypoplasia [RCV000375905] Chr9:2643251 [GRCh38]
Chr9:2643251 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*551T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165970]|Congenital cerebellar hypoplasia [RCV000308615] Chr9:2654419 [GRCh38]
Chr9:2654419 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.*83C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168090]|Congenital cerebellar hypoplasia [RCV000352066] Chr9:2653951 [GRCh38]
Chr9:2653951 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1703+10C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168021]|Congenital cerebellar hypoplasia [RCV000355556] Chr9:2646562 [GRCh38]
Chr9:2646562 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1066+14T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167404]|Congenital cerebellar hypoplasia [RCV000404867] Chr9:2643973 [GRCh38]
Chr9:2643973 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*460G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168852]|Congenital cerebellar hypoplasia [RCV000312186] Chr9:2654328 [GRCh38]
Chr9:2654328 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*180G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168846]|Congenital cerebellar hypoplasia [RCV000406430] Chr9:2654048 [GRCh38]
Chr9:2654048 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.*63C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168089]|Congenital cerebellar hypoplasia [RCV000278361] Chr9:2653931 [GRCh38]
Chr9:2653931 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-111C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167339]|Congenital cerebellar hypoplasia [RCV000278431] Chr9:2622079 [GRCh38]
Chr9:2622079 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.-69A>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167934]|Congenital cerebellar hypoplasia [RCV000335588]|not provided [RCV000833492] Chr9:2622121 [GRCh38]
Chr9:2622121 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.-171G>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167334]|Congenital cerebellar hypoplasia [RCV000385757] Chr9:2622019 [GRCh38]
Chr9:2622019 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.*48C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168087]|Congenital cerebellar hypoplasia [RCV000407386] Chr9:2653916 [GRCh38]
Chr9:2653916 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168787]|Congenital cerebellar hypoplasia [RCV000263076] Chr9:2647525 [GRCh38]
Chr9:2647525 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*16T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167475]|Congenital cerebellar hypoplasia [RCV000337113] Chr9:2653884 [GRCh38]
Chr9:2653884 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-113C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167338]|Congenital cerebellar hypoplasia [RCV000389212] Chr9:2622077 [GRCh38]
Chr9:2622077 [GRCh37]
Chr9:9p24.2
benign|uncertain significance
NM_003383.5(VLDLR):c.-56C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167935]|Congenital cerebellar hypoplasia [RCV000281608] Chr9:2622134 [GRCh38]
Chr9:2622134 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.-392C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165749]|Congenital cerebellar hypoplasia [RCV000363802] Chr9:2621798 [GRCh38]
Chr9:2621798 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167474]|Congenital cerebellar hypoplasia [RCV000282109]|not specified [RCV000500984] Chr9:2652909 [GRCh38]
Chr9:2652909 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000662131]|Congenital cerebellar hypoplasia [RCV000340977]|Dysequilibrium syndrome [RCV000662132] Chr9:2643403 [GRCh38]
Chr9:2643403 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169799]|Congenital cerebellar hypoplasia [RCV000319042] Chr9:2643216 [GRCh38]
Chr9:2643216 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC insertion Congenital cerebellar hypoplasia [RCV000273136] Chr9:2622167..2622168 [GRCh38]
Chr9:2622167..2622168 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-42_-40GGC[5] microsatellite Congenital cerebellar hypoplasia [RCV000308352]|not specified [RCV000356956] Chr9:2622147..2622155 [GRCh38]
Chr9:2622147..2622155 [GRCh37]
Chr9:9p24.2
benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.-122T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167336]|Congenital cerebellar hypoplasia [RCV000274811] Chr9:2622068 [GRCh38]
Chr9:2622068 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.467C>A (p.Pro156His) single nucleotide variant not provided [RCV000519838] Chr9:2643178 [GRCh38]
Chr9:2643178 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.821-2A>G single nucleotide variant not provided [RCV000523320] Chr9:2643626 [GRCh38]
Chr9:2643626 [GRCh37]
Chr9:9p24.2
likely pathogenic
NM_003383.5(VLDLR):c.943+10del deletion Congenital cerebellar hypoplasia [RCV000291026] Chr9:2643758 [GRCh38]
Chr9:2643758 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*595_*598dup duplication Congenital cerebellar hypoplasia [RCV000363490] Chr9:2654460..2654461 [GRCh38]
Chr9:2654460..2654461 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-42_-40GGC[7] microsatellite Congenital cerebellar hypoplasia [RCV000304150] Chr9:2622147..2622149 [GRCh38]
Chr9:2622147..2622149 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-121C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167337]|Congenital cerebellar hypoplasia [RCV000332222] Chr9:2622069 [GRCh38]
Chr9:2622069 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-25_-24insATCCAG insertion Congenital cerebellar hypoplasia [RCV000365308] Chr9:2622165..2622166 [GRCh38]
Chr9:2622165..2622166 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-42_-40GGC[4] microsatellite Congenital cerebellar hypoplasia [RCV000402819] Chr9:2622147..2622158 [GRCh38]
Chr9:2622147..2622158 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*490T>G single nucleotide variant Congenital cerebellar hypoplasia [RCV000366823] Chr9:2654358 [GRCh38]
Chr9:2654358 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167398]|Congenital cerebellar hypoplasia [RCV000404689] Chr9:2643670 [GRCh38]
Chr9:2643670 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*517G>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168853]|Congenital cerebellar hypoplasia [RCV000404429] Chr9:2654385 [GRCh38]
Chr9:2654385 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165899]|Congenital cerebellar hypoplasia [RCV000321941] Chr9:2648809 [GRCh38]
Chr9:2648809 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-56_-54del deletion Congenital cerebellar hypoplasia [RCV000373923] Chr9:2622132..2622134 [GRCh38]
Chr9:2622132..2622134 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.672G>A (p.Glu224=) single nucleotide variant not specified [RCV000605670] Chr9:2643383 [GRCh38]
Chr9:2643383 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.-167dup duplication Congenital cerebellar hypoplasia [RCV000328821] Chr9:2622018..2622019 [GRCh38]
Chr9:2622018..2622019 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167397]|Congenital cerebellar hypoplasia [RCV000344566] Chr9:2643669 [GRCh38]
Chr9:2643669 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.449-10C>G single nucleotide variant not specified [RCV000603294] Chr9:2643150 [GRCh38]
Chr9:2643150 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) single nucleotide variant not provided [RCV000902106]|not specified [RCV000414575] Chr9:2643875 [GRCh38]
Chr9:2643875 [GRCh37]
Chr9:9p24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:1232387-4611862)x1 copy number loss See cases [RCV000446479] Chr9:1232387..4611862 [GRCh37]
Chr9:9p24.3-24.1
likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_003383.5(VLDLR):c.943+19T>C single nucleotide variant not specified [RCV000420920] Chr9:2643769 [GRCh38]
Chr9:2643769 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168789]|not provided [RCV000887422]|not specified [RCV000424647] Chr9:2647579 [GRCh38]
Chr9:2647579 [GRCh37]
Chr9:9p24.2
benign|likely benign|uncertain significance
NM_003383.5(VLDLR):c.1650G>T (p.Leu550=) single nucleotide variant not specified [RCV000435722] Chr9:2646499 [GRCh38]
Chr9:2646499 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1485-12A>G single nucleotide variant not specified [RCV000436321] Chr9:2646322 [GRCh38]
Chr9:2646322 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_003383.5(VLDLR):c.2104+5C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165901]|not provided [RCV000908626]|not specified [RCV000426091] Chr9:2648815 [GRCh38]
Chr9:2648815 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.39C>T (p.Leu13=) single nucleotide variant not specified [RCV000429889] Chr9:2622228 [GRCh38]
Chr9:2622228 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.2(chr9:2639829-2717874)x1 copy number loss See cases [RCV000445681] Chr9:2639829..2717874 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1788A>G (p.Thr596=) single nucleotide variant not specified [RCV000444259] Chr9:2647558 [GRCh38]
Chr9:2647558 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1 copy number loss See cases [RCV000448791] Chr9:213161..3497920 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.2(chr9:2478976-3189696)x1 copy number loss See cases [RCV000448051] Chr9:2478976..3189696 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_003383.5(VLDLR):c.-19_-18insGGCACC insertion not specified [RCV000484276] Chr9:2622170..2622171 [GRCh38]
Chr9:2622170..2622171 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.-42_-40GGC[6] microsatellite not specified [RCV000481183] Chr9:2622147..2622152 [GRCh38]
Chr9:2622147..2622152 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_003383.5(VLDLR):c.82G>A (p.Gly28Arg) single nucleotide variant not provided [RCV000486969] Chr9:2622271 [GRCh38]
Chr9:2622271 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1307C>A (p.Ala436Glu) single nucleotide variant not specified [RCV000501035] Chr9:2645077 [GRCh38]
Chr9:2645077 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile) single nucleotide variant not provided [RCV001434527]|not specified [RCV000503816] Chr9:2651909 [GRCh38]
Chr9:2651909 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) single nucleotide variant not specified [RCV000503868] Chr9:2646516 [GRCh38]
Chr9:2646516 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167941]|not provided [RCV000971143]|not specified [RCV000498823] Chr9:2639898 [GRCh38]
Chr9:2639898 [GRCh37]
Chr9:9p24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003383.5(VLDLR):c.2223T>C (p.Asn741=) single nucleotide variant not specified [RCV000501614] Chr9:2650488 [GRCh38]
Chr9:2650488 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1297G>A (p.Val433Met) single nucleotide variant not specified [RCV000504082] Chr9:2645067 [GRCh38]
Chr9:2645067 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2085T>C (p.His695=) single nucleotide variant not specified [RCV000499465] Chr9:2648791 [GRCh38]
Chr9:2648791 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.471C>T (p.Asp157=) single nucleotide variant not specified [RCV000501990] Chr9:2643182 [GRCh38]
Chr9:2643182 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) single nucleotide variant not specified [RCV000504073] Chr9:2645713 [GRCh38]
Chr9:2645713 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.836G>A (p.Arg279Gln) single nucleotide variant not specified [RCV000499695] Chr9:2643643 [GRCh38]
Chr9:2643643 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1246G>A (p.Gly416Ser) single nucleotide variant not specified [RCV000502030] Chr9:2645016 [GRCh38]
Chr9:2645016 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168016]|not provided [RCV000917782]|not specified [RCV000502607] Chr9:2645604 [GRCh38]
Chr9:2645604 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165828]|not provided [RCV000894185]|not specified [RCV000502748] Chr9:2643449 [GRCh38]
Chr9:2643449 [GRCh37]
Chr9:9p24.2
benign|likely benign
NM_003383.5(VLDLR):c.1150G>A (p.Ala384Thr) single nucleotide variant not specified [RCV000500558] Chr9:2644817 [GRCh38]
Chr9:2644817 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.78A>T (p.Gly26=) single nucleotide variant not specified [RCV000502798] Chr9:2622267 [GRCh38]
Chr9:2622267 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.64A>T (p.Ser22Cys) single nucleotide variant not specified [RCV000500733] Chr9:2622253 [GRCh38]
Chr9:2622253 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2587A>G (p.Ile863Val) single nucleotide variant not specified [RCV000503097] Chr9:2653833 [GRCh38]
Chr9:2653833 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23
likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_003383.5(VLDLR):c.1023G>T (p.Glu341Asp) single nucleotide variant not provided [RCV000513894] Chr9:2643916 [GRCh38]
Chr9:2643916 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.18C>T (p.Leu6=) single nucleotide variant not specified [RCV000600746] Chr9:2622207 [GRCh38]
Chr9:2622207 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1704-17C>T single nucleotide variant not specified [RCV000612331] Chr9:2647457 [GRCh38]
Chr9:2647457 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1 copy number loss not provided [RCV000683159] Chr9:203861..4959039 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.2(chr9:2492392-3216065)x3 copy number gain not provided [RCV000683144] Chr9:2492392..3216065 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.2(chr9:2506235-3216065)x3 copy number gain not provided [RCV000683142] Chr9:2506235..3216065 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.2(chr9:2327913-3426358)x3 copy number gain not provided [RCV000683151] Chr9:2327913..3426358 [GRCh37]
Chr9:9p24.2
uncertain significance
NC_000009.11:g.2654203_2668811del14609 deletion Primary amenorrhea [RCV000754446] Chr9:2654203..2668811 [GRCh38]
Chr9:2654203..2668811 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003383.5(VLDLR):c.639C>T (p.Asp213=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165824] Chr9:2643350 [GRCh38]
Chr9:2643350 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165905] Chr9:2650516 [GRCh38]
Chr9:2650516 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.657C>T (p.Ser219=) single nucleotide variant not provided [RCV000923035] Chr9:2643368 [GRCh38]
Chr9:2643368 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.495C>G (p.Arg165=) single nucleotide variant not provided [RCV000936539] Chr9:2643206 [GRCh38]
Chr9:2643206 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_003383.5(VLDLR):c.1245C>T (p.Gly415=) single nucleotide variant not provided [RCV000902881] Chr9:2645015 [GRCh38]
Chr9:2645015 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.15G>A (p.Ala5=) single nucleotide variant not provided [RCV000922796] Chr9:2622204 [GRCh38]
Chr9:2622204 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1479C>T (p.Ile493=) single nucleotide variant not provided [RCV000943533] Chr9:2645740 [GRCh38]
Chr9:2645740 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.417T>C (p.Asp139=) single nucleotide variant not provided [RCV000938535] Chr9:2641468 [GRCh38]
Chr9:2641468 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_003383.5(VLDLR):c.326-270T>A single nucleotide variant not provided [RCV000831944] Chr9:2641107 [GRCh38]
Chr9:2641107 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.2251+265A>C single nucleotide variant not provided [RCV000831945] Chr9:2650781 [GRCh38]
Chr9:2650781 [GRCh37]
Chr9:9p24.2
benign
NC_000009.12:g.2621564G>A single nucleotide variant not provided [RCV000832573] Chr9:2621564 [GRCh38]
Chr9:2621564 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1962+2T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV000785940] Chr9:2648349 [GRCh38]
Chr9:2648349 [GRCh37]
Chr9:9p24.2
likely pathogenic
NM_003383.5(VLDLR):c.1312+119C>G single nucleotide variant not provided [RCV000830007] Chr9:2645201 [GRCh38]
Chr9:2645201 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.82+283T>C single nucleotide variant not provided [RCV000826353] Chr9:2622554 [GRCh38]
Chr9:2622554 [GRCh37]
Chr9:9p24.2
benign
NC_000009.12:g.2621482C>G single nucleotide variant not provided [RCV000826351] Chr9:2621482 [GRCh38]
Chr9:2621482 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.1312+27G>A single nucleotide variant not provided [RCV000833714] Chr9:2645109 [GRCh38]
Chr9:2645109 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.1484+28T>G single nucleotide variant not provided [RCV000833715] Chr9:2645773 [GRCh38]
Chr9:2645773 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.2252-30T>C single nucleotide variant not provided [RCV000833716] Chr9:2651385 [GRCh38]
Chr9:2651385 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.1186+21T>C single nucleotide variant not provided [RCV000835432] Chr9:2644874 [GRCh38]
Chr9:2644874 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.1067-191G>A single nucleotide variant not provided [RCV000829999] Chr9:2644543 [GRCh38]
Chr9:2644543 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.2336-65T>C single nucleotide variant not provided [RCV000833717] Chr9:2651809 [GRCh38]
Chr9:2651809 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.1313-101A>G single nucleotide variant not provided [RCV000838023] Chr9:2645473 [GRCh38]
Chr9:2645473 [GRCh37]
Chr9:9p24.2
benign
GRCh37/hg19 9p24.2(chr9:2612157-2631742)x1 copy number loss not provided [RCV000847809] Chr9:2612157..2631742 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2252-75A>G single nucleotide variant not provided [RCV000831543] Chr9:2651340 [GRCh38]
Chr9:2651340 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.2417-191C>T single nucleotide variant not provided [RCV000831544] Chr9:2652589 [GRCh38]
Chr9:2652589 [GRCh37]
Chr9:9p24.2
benign
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1 copy number loss not provided [RCV000849761] Chr9:203861..2978707 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
NM_003383.5(VLDLR):c.82+276C>T single nucleotide variant not provided [RCV000826352] Chr9:2622547 [GRCh38]
Chr9:2622547 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.83-337G>C single nucleotide variant not provided [RCV000826354] Chr9:2635116 [GRCh38]
Chr9:2635116 [GRCh37]
Chr9:9p24.2
benign
GRCh37/hg19 9p24.2(chr9:2498024-3204202)x3 copy number gain not provided [RCV000848944] Chr9:2498024..3204202 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2252-67T>C single nucleotide variant not provided [RCV000837323] Chr9:2651348 [GRCh38]
Chr9:2651348 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.2336-160T>G single nucleotide variant not provided [RCV000837324] Chr9:2651714 [GRCh38]
Chr9:2651714 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.711C>G (p.Thr237=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165826] Chr9:2643422 [GRCh38]
Chr9:2643422 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*534T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165969] Chr9:2654402 [GRCh38]
Chr9:2654402 [GRCh37]
Chr9:9p24.2
likely benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.2(chr9:2549592-2788241)x1 copy number loss not provided [RCV001006185] Chr9:2549592..2788241 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:2180509-3128422)x3 copy number gain not provided [RCV000846846] Chr9:2180509..3128422 [GRCh37]
Chr9:9p24.3-24.2
uncertain significance
NM_003383.5(VLDLR):c.-207G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165753] Chr9:2621983 [GRCh38]
Chr9:2621983 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_003383.5(VLDLR):c.*281G>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168850] Chr9:2654149 [GRCh38]
Chr9:2654149 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_003383.5(VLDLR):c.*98G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168091] Chr9:2653966 [GRCh38]
Chr9:2653966 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*267A>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168849] Chr9:2654135 [GRCh38]
Chr9:2654135 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*351C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168851] Chr9:2654219 [GRCh38]
Chr9:2654219 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1066+49C>A single nucleotide variant not provided [RCV000833940] Chr9:2644008 [GRCh38]
Chr9:2644008 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.912C>T (p.Val304=) single nucleotide variant not provided [RCV000939094] Chr9:2643719 [GRCh38]
Chr9:2643719 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1822+168A>G single nucleotide variant not provided [RCV000830000] Chr9:2647760 [GRCh38]
Chr9:2647760 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.2105-106T>G single nucleotide variant not provided [RCV000830001] Chr9:2650264 [GRCh38]
Chr9:2650264 [GRCh37]
Chr9:9p24.2
benign
GRCh37/hg19 9p24.2(chr9:2330906-3419904)x3 copy number gain not provided [RCV000847448] Chr9:2330906..3419904 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168019] Chr9:2646395 [GRCh38]
Chr9:2646395 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169798] Chr9:2643180 [GRCh38]
Chr9:2643180 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*51C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168088] Chr9:2653919 [GRCh38]
Chr9:2653919 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-99C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167340] Chr9:2622091 [GRCh38]
Chr9:2622091 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167471] Chr9:2651933 [GRCh38]
Chr9:2651933 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2416+13C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167473] Chr9:2651967 [GRCh38]
Chr9:2651967 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.570G>C (p.Pro190=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169801] Chr9:2643281 [GRCh38]
Chr9:2643281 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.2(chr9:2582103-2828969)x3 copy number gain not provided [RCV001006186] Chr9:2582103..2828969 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_003383.5(VLDLR):c.-154C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167335] Chr9:2622036 [GRCh38]
Chr9:2622036 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167470] Chr9:2651917 [GRCh38]
Chr9:2651917 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-302T>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165752] Chr9:2621888 [GRCh38]
Chr9:2621888 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165825] Chr9:2643351 [GRCh38]
Chr9:2643351 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165903] Chr9:2650433 [GRCh38]
Chr9:2650433 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165904] Chr9:2650487 [GRCh38]
Chr9:2650487 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1173G>A (p.Arg391=) single nucleotide variant not provided [RCV000911020] Chr9:2644840 [GRCh38]
Chr9:2644840 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1071A>T (p.Ile357=) single nucleotide variant not provided [RCV000910054] Chr9:2644738 [GRCh38]
Chr9:2644738 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.2577G>A (p.Thr859=) single nucleotide variant not provided [RCV000925593] Chr9:2652940 [GRCh38]
Chr9:2652940 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1596G>A (p.Ala532=) single nucleotide variant not provided [RCV000892614] Chr9:2646445 [GRCh38]
Chr9:2646445 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=) single nucleotide variant not provided [RCV000928774] Chr9:2644741 [GRCh38]
Chr9:2644741 [GRCh37]
Chr9:9p24.2
benign
NM_003383.5(VLDLR):c.397A>C (p.Arg133=) single nucleotide variant not provided [RCV000974221] Chr9:2641448 [GRCh38]
Chr9:2641448 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.699A>C (p.Pro233=) single nucleotide variant not provided [RCV000902177] Chr9:2643410 [GRCh38]
Chr9:2643410 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.449-14C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169795] Chr9:2643146 [GRCh38]
Chr9:2643146 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.921C>T (p.Ser307=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167400] Chr9:2643728 [GRCh38]
Chr9:2643728 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.888G>A (p.Gln296=) single nucleotide variant not provided [RCV000913503] Chr9:2643695 [GRCh38]
Chr9:2643695 [GRCh37]
Chr9:9p24.2
likely benign
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168014]|not provided [RCV000933998] Chr9:2644846 [GRCh38]
Chr9:2644846 [GRCh37]
Chr9:9p24.2
likely benign|uncertain significance
NM_003383.5(VLDLR):c.1188T>C (p.Asp396=) single nucleotide variant not provided [RCV000999125] Chr9:2644958 [GRCh38]
Chr9:2644958 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) deletion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001004926] Chr9:2645634 [GRCh38]
Chr9:2645634 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*45C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168085] Chr9:2653913 [GRCh38]
Chr9:2653913 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*46C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168086] Chr9:2653914 [GRCh38]
Chr9:2653914 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.2(chr9:2622190-2653868)x3 copy number gain not provided [RCV001092470] Chr9:2622190..2653868 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.893A>G (p.Asn298Ser) single nucleotide variant not provided [RCV001092991] Chr9:2643700 [GRCh38]
Chr9:2643700 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001169800] Chr9:2643252 [GRCh38]
Chr9:2643252 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*21C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168084] Chr9:2653889 [GRCh38]
Chr9:2653889 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1971C>T (p.Val657=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168792] Chr9:2648677 [GRCh38]
Chr9:2648677 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*214C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168848] Chr9:2654082 [GRCh38]
Chr9:2654082 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.828A>C (p.Arg276=) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165830] Chr9:2643635 [GRCh38]
Chr9:2643635 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.2(chr9:2449303-2685238)x1 copy number loss not provided [RCV001006184] Chr9:2449303..2685238 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-48G>C single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167936] Chr9:2622142 [GRCh38]
Chr9:2622142 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.*192C>T single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001168847] Chr9:2654060 [GRCh38]
Chr9:2654060 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.-303C>G single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165751] Chr9:2621887 [GRCh38]
Chr9:2621887 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165900] Chr9:2648810 [GRCh38]
Chr9:2648810 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2104+6G>A single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001165902] Chr9:2648816 [GRCh38]
Chr9:2648816 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167403] Chr9:2643934 [GRCh38]
Chr9:2643934 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001167469] Chr9:2651433 [GRCh38]
Chr9:2651433 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.719C>T (p.Pro240Leu) single nucleotide variant Microcephaly [RCV001252704] Chr9:2643430 [GRCh38]
Chr9:2643430 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001334137] Chr9:2643415 [GRCh38]
Chr9:2643415 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001334135] Chr9:2648795 [GRCh38]
Chr9:2648795 [GRCh37]
Chr9:9p24.2
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NC_000009.11:g.(?_2029023)_(5300444_?)dup duplication not provided [RCV001346810] Chr9:2029023..5300444 [GRCh37]
Chr9:9p24.3-24.1
uncertain significance
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001334136] Chr9:2639955 [GRCh38]
Chr9:2639955 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) single nucleotide variant Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [RCV001334138] Chr9:2643726 [GRCh38]
Chr9:2643726 [GRCh37]
Chr9:9p24.2
uncertain significance
NM_003383.5(VLDLR):c.1077A>C (p.Glu359Asp) single nucleotide variant not provided [RCV001357221] Chr9:2644744 [GRCh38]
Chr9:2644744 [GRCh37]
Chr9:9p24.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12698 AgrOrtholog
COSMIC VLDLR COSMIC
Ensembl Genes ENSG00000147852 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000371528 UniProtKB/TrEMBL
  ENSP00000371531 UniProtKB/Swiss-Prot
  ENSP00000371532 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000505030 ENTREZGENE
  ENSP00000505773 ENTREZGENE
  ENSP00000506072 ENTREZGENE
Ensembl Transcript ENST00000382096 UniProtKB/TrEMBL
  ENST00000382099 UniProtKB/Swiss-Prot
  ENST00000382100 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000680243 ENTREZGENE
  ENST00000680746 ENTREZGENE
  ENST00000681306 ENTREZGENE
  ENST00000681618 ENTREZGENE
  ENST00000681806 ENTREZGENE
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147852 GTEx
HGNC ID HGNC:12698 ENTREZGENE
Human Proteome Map VLDLR Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_classB_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VLDLR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7436 UniProtKB/Swiss-Prot
NCBI Gene 7436 ENTREZGENE
OMIM 192977 OMIM
  224050 OMIM
PANTHER PTHR24270:SF16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37317 PharmGKB
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt P98155 ENTREZGENE
  Q5VVF5 ENTREZGENE, UniProtKB/TrEMBL
  Q5VVF8_HUMAN UniProtKB/TrEMBL
  VLDLR_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RMZ7 UniProtKB/Swiss-Prot
  D3DRH6 UniProtKB/Swiss-Prot
  Q5VVF6 UniProtKB/Swiss-Prot