LRP2 (LDL receptor related protein 2) - Rat Genome Database

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Gene: LRP2 (LDL receptor related protein 2) Homo sapiens
Analyze
Symbol: LRP2
Name: LDL receptor related protein 2
RGD ID: 68599
HGNC Page HGNC
Description: Exhibits calcium ion binding activity and chaperone binding activity. Involved in several processes, including positive regulation of protein kinase B signaling; receptor-mediated endocytosis; and response to leptin. Localizes to apical plasma membrane and receptor complex. Implicated in Donnai-Barrow syndrome and autoimmune thyroiditis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium sensor protein; DBS; glycoprotein 330; GP330; Heymann nephritis antigen homolog; low density lipoprotein receptor-related protein 2; low-density lipoprotein receptor-related protein 2; LRP-2; megalin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2169,127,109 - 169,362,534 (-)EnsemblGRCh38hg38GRCh38
GRCh382169,127,109 - 169,362,597 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372169,983,619 - 170,219,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362169,691,865 - 169,927,368 (-)NCBINCBI36hg18NCBI36
Build 342169,810,367 - 170,044,520NCBI
Celera2163,608,960 - 163,839,028 (-)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2161,880,497 - 162,110,457 (-)NCBIHuRef
CHM1_12169,989,632 - 170,225,372 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (ISO)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinol  (ISO)
alpha-hexachlorocyclohexane  (ISO)
aspartame  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
calciol  (ISO)
carbamazepine  (EXP)
chenodeoxycholic acid  (ISO)
chloroprene  (ISO)
cholic acid  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
clobetasol  (ISO)
cobalt dichloride  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
guggulsterone  (ISO)
hydrogen peroxide  (EXP)
lithocholic acid  (ISO)
manganese(II) chloride  (ISO)
methimazole  (EXP,ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
O-methyleugenol  (EXP)
panobinostat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phosgene  (ISO)
progesterone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulforaphane  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vitamin D  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (ISO)
amyloid-beta clearance  (ISS)
animal organ regeneration  (ISO)
aorta development  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to growth factor stimulus  (ISS)
chemoattraction of axon  (ISO)
coronary artery morphogenesis  (ISS)
coronary vasculature development  (ISO)
endocytic hemoglobin import into cell  (ISO)
endocytosis  (IEA,ISO,TAS)
endosomal transport  (ISO)
folate import across plasma membrane  (ISS)
forebrain development  (IEA,ISO)
heart development  (ISO)
hormone secretion  (ISO)
kidney development  (IEA,ISO)
lipid metabolic process  (TAS)
male gonad development  (ISS)
membrane organization  (TAS)
metal ion transport  (IDA)
negative regulation of apoptotic process  (IGI)
negative regulation of BMP signaling pathway  (ISS)
neural tube closure  (ISS)
neuron projection arborization  (ISS)
outflow tract septum morphogenesis  (ISS)
positive regulation of endocytosis  (ISO)
positive regulation of lipoprotein transport  (ISO)
positive regulation of lysosomal protein catabolic process  (ISS)
positive regulation of neurogenesis  (ISS)
positive regulation of oligodendrocyte progenitor proliferation  (ISS)
positive regulation of protein kinase B signaling  (IGI)
protein transport  (IDA)
pulmonary artery morphogenesis  (ISS)
receptor-mediated endocytosis  (IBA,IDA,ISO,ISS)
response to drug  (ISO)
response to leptin  (IDA)
response to retinoic acid  (ISO)
response to vitamin D  (ISO)
response to X-ray  (ISO)
retinoid metabolic process  (TAS)
secondary heart field specification  (ISS)
sensory perception of sound  (ISS)
transcytosis  (ISO,ISS)
transport across blood-brain barrier  (NAS)
vagina development  (ISS)
ventricular compact myocardium morphogenesis  (ISS)
ventricular septum development  (IEA,ISO)
vitamin D metabolic process  (TAS)
vitamin metabolic process  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1382088   PMID:2786251   PMID:7512726   PMID:7579068   PMID:7657789   PMID:7686151   PMID:7768901   PMID:7775583   PMID:7959795   PMID:8187828   PMID:8344937   PMID:8706697  
PMID:8710893   PMID:8898021   PMID:9071320   PMID:9228033   PMID:9334227   PMID:9492085   PMID:9655248   PMID:9727058   PMID:9773776   PMID:9837937   PMID:10073957   PMID:10203351  
PMID:10330424   PMID:10364184   PMID:10753646   PMID:10769163   PMID:10772929   PMID:10827173   PMID:10982792   PMID:11095640   PMID:11158855   PMID:11274227   PMID:11278724   PMID:11421580  
PMID:11595644   PMID:11717447   PMID:11912251   PMID:11994745   PMID:12107412   PMID:12169628   PMID:12508107   PMID:12707383   PMID:12713445   PMID:12723989   PMID:12768436   PMID:12879166  
PMID:14528014   PMID:14657389   PMID:15126248   PMID:15134832   PMID:15583024   PMID:15670845   PMID:15951480   PMID:16101684   PMID:16174284   PMID:16344560   PMID:16713569   PMID:16828734  
PMID:16908842   PMID:17260971   PMID:17324488   PMID:17457342   PMID:17474147   PMID:17555532   PMID:17632512   PMID:17897319   PMID:17979745   PMID:18070591   PMID:18174661   PMID:18426980  
PMID:18448595   PMID:18559602   PMID:18685438   PMID:18791690   PMID:19056867   PMID:19913121   PMID:19940034   PMID:20031551   PMID:20038220   PMID:20052685   PMID:20139978   PMID:20301533  
PMID:20301732   PMID:20379614   PMID:20468071   PMID:20628086   PMID:20800603   PMID:20971101   PMID:21079607   PMID:21104416   PMID:21595846   PMID:21873635   PMID:22170372   PMID:22174918  
PMID:22437417   PMID:22565184   PMID:22578327   PMID:22649097   PMID:23274376   PMID:23275343   PMID:23376485   PMID:23382219   PMID:23533145   PMID:23673647   PMID:23825075   PMID:23909735  
PMID:23978537   PMID:23992033   PMID:24093454   PMID:24197071   PMID:24254699   PMID:24286387   PMID:24366390   PMID:24876117   PMID:25189868   PMID:25304941   PMID:25502002   PMID:25585665  
PMID:25682901   PMID:26147675   PMID:26186194   PMID:26439398   PMID:26529358   PMID:26590417   PMID:26638075   PMID:26872844   PMID:27072056   PMID:27197912   PMID:27241555   PMID:27766457  
PMID:27798286   PMID:28138564   PMID:28289043   PMID:28331063   PMID:28356267   PMID:28446629   PMID:28514442   PMID:28718761   PMID:28739605   PMID:29090957   PMID:29187367   PMID:29303040  
PMID:29388841   PMID:29676528   PMID:29728895   PMID:29916093   PMID:30021884   PMID:30280653   PMID:30355654   PMID:30659269   PMID:31602990   PMID:31707037   PMID:31753913   PMID:31821692  
PMID:31975031   PMID:32877691   PMID:33006316   PMID:33103447  


Genomics

Comparative Map Data
LRP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2169,127,109 - 169,362,534 (-)EnsemblGRCh38hg38GRCh38
GRCh382169,127,109 - 169,362,597 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372169,983,619 - 170,219,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362169,691,865 - 169,927,368 (-)NCBINCBI36hg18NCBI36
Build 342169,810,367 - 170,044,520NCBI
Celera2163,608,960 - 163,839,028 (-)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2161,880,497 - 162,110,457 (-)NCBIHuRef
CHM1_12169,989,632 - 170,225,372 (-)NCBICHM1_1
Lrp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39269,254,679 - 69,416,373 (-)NCBIGRCm39mm39
GRCm39 Ensembl269,254,684 - 69,416,409 (-)Ensembl
GRCm38269,424,335 - 69,586,029 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl269,424,340 - 69,586,065 (-)EnsemblGRCm38mm10GRCm38
MGSCv37269,262,392 - 69,424,124 (-)NCBIGRCm37mm9NCBIm37
MGSCv36269,225,174 - 69,386,906 (-)NCBImm8
Celera271,089,849 - 71,251,632 (-)NCBICelera
Cytogenetic Map2C2NCBI
cM Map240.74NCBI
Lrp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2354,189,305 - 54,346,769 (-)NCBI
Rnor_6.0 Ensembl355,665,145 - 55,822,551 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0355,665,153 - 55,822,484 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0362,271,279 - 62,434,959 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4351,563,764 - 51,724,478 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1351,460,135 - 51,620,850 (-)NCBI
Celera353,751,431 - 53,907,374 (-)NCBICelera
Cytogenetic Map3q21NCBI
Lrp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554495,160,946 - 5,314,948 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554495,155,109 - 5,314,886 (+)NCBIChiLan1.0ChiLan1.0
LRP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B173,873,454 - 174,103,911 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B173,873,767 - 174,103,697 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B56,407,871 - 56,640,471 (-)NCBIMhudiblu_PPA_v0panPan3
LRP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13613,910,450 - 14,107,081 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3613,911,865 - 14,107,546 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3613,921,313 - 14,118,067 (-)NCBI
ROS_Cfam_1.03614,026,860 - 14,223,177 (-)NCBI
UMICH_Zoey_3.13614,111,272 - 14,307,564 (-)NCBI
UNSW_CanFamBas_1.03614,099,044 - 14,295,347 (-)NCBI
UU_Cfam_GSD_1.03614,212,187 - 14,408,758 (-)NCBI
Lrp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303131,178,787 - 131,372,907 (-)NCBI
SpeTri2.0NW_00493646910,245,001 - 10,438,933 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1575,565,301 - 75,716,694 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11575,565,299 - 75,754,604 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21584,725,590 - 84,788,031 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11054,672,876 - 54,889,374 (-)NCBI
ChlSab1.1 Ensembl1054,711,517 - 54,889,208 (-)Ensembl
Lrp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247876,797,462 - 6,998,859 (-)NCBI

Position Markers
D2S2879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,157,291 - 170,157,420UniSTSGRCh37
Build 362169,865,537 - 169,865,666RGDNCBI36
Celera2163,777,205 - 163,777,334RGD
Cytogenetic Map2q31.1UniSTS
HuRef2162,049,386 - 162,049,515UniSTS
Stanford-G3 RH Map26862.0UniSTS
NCBI RH Map21324.6UniSTS
GeneMap99-G3 RH Map27717.0UniSTS
A009P03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,983,716 - 169,983,871UniSTSGRCh37
Build 362169,691,962 - 169,692,117RGDNCBI36
Celera2163,609,057 - 163,609,212RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,880,594 - 161,880,749UniSTS
GeneMap99-GB4 RH Map2555.83UniSTS
D2S1416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,203,855 - 170,204,118UniSTSGRCh37
Build 362169,912,101 - 169,912,364RGDNCBI36
Celera2163,823,763 - 163,824,026RGD
Cytogenetic Map2q31.1UniSTS
HuRef2162,095,190 - 162,095,453UniSTS
Whitehead-YAC Contig Map2 UniSTS
SHGC-80045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,141,131 - 170,141,461UniSTSGRCh37
Build 362169,849,377 - 169,849,707RGDNCBI36
Celera2163,761,089 - 163,761,419RGD
Cytogenetic Map2q31.1UniSTS
HuRef2162,033,286 - 162,033,616UniSTS
RH120397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,086,556 - 170,086,840UniSTSGRCh37
Build 362169,794,802 - 169,795,086RGDNCBI36
Celera2163,711,907 - 163,712,191RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,983,446 - 161,983,730UniSTS
RH123671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,077,101 - 170,077,380UniSTSGRCh37
Build 362169,785,347 - 169,785,626RGDNCBI36
Celera2163,702,452 - 163,702,731RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,973,991 - 161,974,270UniSTS
RH124065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,196,106 - 170,196,376UniSTSGRCh37
Build 362169,904,352 - 169,904,622RGDNCBI36
Celera2163,816,014 - 163,816,284RGD
Cytogenetic Map2q31.1UniSTS
HuRef2162,087,441 - 162,087,711UniSTS
LRP2_7816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,984,698 - 169,985,331UniSTSGRCh37
Build 362169,692,944 - 169,693,577RGDNCBI36
Celera2163,610,039 - 163,610,672RGD
HuRef2161,881,578 - 161,882,211UniSTS
RH45139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,983,651 - 169,983,859UniSTSGRCh37
Build 362169,691,897 - 169,692,105RGDNCBI36
Celera2163,608,992 - 163,609,200RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,880,529 - 161,880,737UniSTS
GeneMap99-GB4 RH Map2555.19UniSTS
NCBI RH Map21266.3UniSTS
WI-17537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,984,886 - 169,985,023UniSTSGRCh37
Build 362169,693,132 - 169,693,269RGDNCBI36
Celera2163,610,227 - 163,610,364RGD
Cytogenetic Map2q31.1UniSTS
HuRef2161,881,766 - 161,881,903UniSTS
GeneMap99-GB4 RH Map2557.65UniSTS
Whitehead-RH Map2891.8UniSTS
G32722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372169,983,716 - 169,983,871UniSTSGRCh37
Celera2163,609,057 - 163,609,212UniSTS
Cytogenetic Map2q31.1UniSTS
HuRef2161,880,594 - 161,880,749UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1161
Count of miRNA genes:787
Interacting mature miRNAs:893
Transcripts:ENST00000263816, ENST00000443831, ENST00000461418, ENST00000491228, ENST00000493501
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 5 4 662 1 1 25 181 229 43 681 40 4
Low 18 91 157 71 54 71 221 4 1768 60 412 521 2 1 328 6 2 1
Below cutoff 1719 2396 698 425 1042 280 3489 1742 1599 47 822 289 150 644 2421

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF065440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY265357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY265358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD673312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA200673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA339827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA401915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S73145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000443831   ⟹   ENSP00000409813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,240,750 - 169,362,534 (-)Ensembl
RefSeq Acc Id: ENST00000461418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,177,840 - 169,182,450 (-)Ensembl
RefSeq Acc Id: ENST00000491228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,132,600 - 169,139,663 (-)Ensembl
RefSeq Acc Id: ENST00000493501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,271,000 - 169,275,353 (-)Ensembl
RefSeq Acc Id: ENST00000649046   ⟹   ENSP00000496870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,127,109 - 169,362,534 (-)Ensembl
RefSeq Acc Id: ENST00000649153   ⟹   ENSP00000497617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,128,436 - 169,188,197 (-)Ensembl
RefSeq Acc Id: ENST00000650252   ⟹   ENSP00000496887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2169,127,829 - 169,173,964 (-)Ensembl
RefSeq Acc Id: NM_004525   ⟹   NP_004516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,127,109 - 169,362,534 (-)NCBI
GRCh372169,983,619 - 170,219,123 (-)NCBI
Build 362169,691,865 - 169,927,368 (-)NCBI Archive
HuRef2161,880,497 - 162,110,457 (-)ENTREZGENE
CHM1_12169,989,632 - 170,225,372 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511183   ⟹   XP_011509485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,127,753 - 169,362,597 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011511184   ⟹   XP_011509486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,127,753 - 169,271,715 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004516   ⟸   NM_004525
- Peptide Label: precursor
- UniProtKB: P98164 (UniProtKB/Swiss-Prot),   Q7Z5C0 (UniProtKB/TrEMBL),   Q7Z5C1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509485   ⟸   XM_011511183
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509486   ⟸   XM_011511184
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000497617   ⟸   ENST00000649153
RefSeq Acc Id: ENSP00000496870   ⟸   ENST00000649046
RefSeq Acc Id: ENSP00000496887   ⟸   ENST00000650252
RefSeq Acc Id: ENSP00000409813   ⟸   ENST00000443831
Protein Domains
EGF-like   EGF_CA   LDL-receptor class A

Promoters
RGD ID:6861952
Promoter ID:EPDNEW_H4141
Type:initiation region
Name:LRP2_1
Description:LDL receptor related protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,362,534 - 169,362,594EPDNEW
RGD ID:6797758
Promoter ID:HG_KWN:35789
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:OTTHUMT00000255231,   OTTHUMT00000337306
Position:
Human AssemblyChrPosition (strand)Source
Build 362169,927,021 - 169,928,442 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004525.3(LRP2):c.11259C>G (p.Asn3753Lys) single nucleotide variant not provided [RCV000519604] Chr2:169172019 [GRCh38]
Chr2:170028529 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12437del (p.Gly4146fs) deletion Donnai-Barrow syndrome [RCV000033107] Chr2:169152823 [GRCh38]
Chr2:170009333 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.1627A>T (p.Met543Leu) single nucleotide variant not provided [RCV000722751] Chr2:169277890 [GRCh38]
Chr2:170134400 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr) single nucleotide variant not provided [RCV000722280] Chr2:169207247 [GRCh38]
Chr2:170063757 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.7081C>A (p.Pro2361Thr) single nucleotide variant not provided [RCV000722281] Chr2:169206639 [GRCh38]
Chr2:170063149 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4554G>T (p.Trp1518Cys) single nucleotide variant not provided [RCV000723266] Chr2:169237240 [GRCh38]
Chr2:170093750 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.610C>G (p.His204Asp) single nucleotide variant not provided [RCV000519410] Chr2:169294190 [GRCh38]
Chr2:170150700 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.964C>T (p.His322Tyr) single nucleotide variant not provided [RCV000520253] Chr2:169289104 [GRCh38]
Chr2:170145614 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) single nucleotide variant Donnai-Barrow syndrome [RCV000010058]|not provided [RCV000412752] Chr2:169205630 [GRCh38]
Chr2:170062140 [GRCh37]
Chr2:2q31.1
pathogenic|likely pathogenic
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs) deletion Donnai-Barrow syndrome [RCV000010059] Chr2:169185863..169185864 [GRCh38]
Chr2:170042373..170042374 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.2640-1G>A single nucleotide variant Donnai-Barrow syndrome [RCV000010060] Chr2:169256237 [GRCh38]
Chr2:170112747 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs) deletion Donnai-Barrow syndrome [RCV000010061] Chr2:169198842..169198845 [GRCh38]
Chr2:170055352..170055355 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.8452+1G>A single nucleotide variant Donnai-Barrow syndrome [RCV000010062] Chr2:169201627 [GRCh38]
Chr2:170058137 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter) single nucleotide variant Donnai-Barrow syndrome [RCV000010063] Chr2:169178001 [GRCh38]
Chr2:170034511 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.1341+2T>G single nucleotide variant Donnai-Barrow syndrome [RCV000010064] Chr2:169280348 [GRCh38]
Chr2:170136858 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter) single nucleotide variant Donnai-Barrow syndrome [RCV000010065] Chr2:169282951 [GRCh38]
Chr2:170139461 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.11469_11472del (p.Cys3823fs) deletion Donnai-Barrow syndrome [RCV000020603] Chr2:169169727..169169730 [GRCh38]
Chr2:170026237..170026240 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) duplication Donnai-Barrow syndrome [RCV000020604] Chr2:169140514..169140515 [GRCh38]
Chr2:169997024..169997025 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.770-2A>G single nucleotide variant Donnai-Barrow syndrome [RCV000020605] Chr2:169290999 [GRCh38]
Chr2:170147509 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.9358_9359del (p.Ser3120fs) deletion Donnai-Barrow syndrome [RCV000020606] Chr2:169185989..169185990 [GRCh38]
Chr2:170042499..170042500 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.2(LRP2):c.79+18571C>T single nucleotide variant Lung cancer [RCV000091657] Chr2:169343750 [GRCh38]
Chr2:170200260 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) single nucleotide variant Donnai-Barrow syndrome [RCV000033108] Chr2:169212088 [GRCh38]
Chr2:170068598 [GRCh37]
Chr2:2q31.1
pathogenic|uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
NM_004525.2(LRP2):c.11170G>A (p.Asp3724Asn) single nucleotide variant Malignant melanoma [RCV000065194] Chr2:169172108 [GRCh38]
Chr2:170028618 [GRCh37]
Chr2:169736864 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) single nucleotide variant Donnai-Barrow syndrome [RCV001134469]|Inborn genetic diseases [RCV000624161]|not provided [RCV000891452] Chr2:169173996 [GRCh38]
Chr2:170030506 [GRCh37]
Chr2:169738752 [NCBI36]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004525.2(LRP2):c.7398G>A (p.Gly2466=) single nucleotide variant Malignant melanoma [RCV000065196] Chr2:169206181 [GRCh38]
Chr2:170062691 [GRCh37]
Chr2:169770937 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.13211G>A (p.Gly4404Asp) single nucleotide variant Malignant melanoma [RCV000060388] Chr2:169139599 [GRCh38]
Chr2:169996109 [GRCh37]
Chr2:169704355 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.13210G>A (p.Gly4404Ser) single nucleotide variant Malignant melanoma [RCV000060389] Chr2:169139600 [GRCh38]
Chr2:169996110 [GRCh37]
Chr2:169704356 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.10265G>A (p.Trp3422Ter) single nucleotide variant Malignant melanoma [RCV000060390] Chr2:169177931 [GRCh38]
Chr2:170034441 [GRCh37]
Chr2:169742687 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.7425G>A (p.Trp2475Ter) single nucleotide variant Malignant melanoma [RCV000060391] Chr2:169206154 [GRCh38]
Chr2:170062664 [GRCh37]
Chr2:169770910 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.2443G>A (p.Asp815Asn) single nucleotide variant Malignant melanoma [RCV000060392] Chr2:169259095 [GRCh38]
Chr2:170115605 [GRCh37]
Chr2:169823851 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.1242C>T (p.Phe414=) single nucleotide variant Malignant melanoma [RCV000060393] Chr2:169280449 [GRCh38]
Chr2:170136959 [GRCh37]
Chr2:169845205 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.13744C>T (p.Leu4582Phe) single nucleotide variant Malignant melanoma [RCV000065190] Chr2:169129069 [GRCh38]
Chr2:169985579 [GRCh37]
Chr2:169693825 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.12988G>A (p.Val4330Met) single nucleotide variant Malignant melanoma [RCV000065191] Chr2:169145747 [GRCh38]
Chr2:170002257 [GRCh37]
Chr2:169710503 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.12908G>A (p.Gly4303Glu) single nucleotide variant Malignant melanoma [RCV000065192] Chr2:169145827 [GRCh38]
Chr2:170002337 [GRCh37]
Chr2:169710583 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.2(LRP2):c.11825C>T (p.Pro3942Leu) single nucleotide variant Malignant melanoma [RCV000065193] Chr2:169162534 [GRCh38]
Chr2:170019044 [GRCh37]
Chr2:169727290 [NCBI36]
Chr2:2q31.1
not provided
NM_004525.3(LRP2):c.7384_7390+8dup duplication not provided [RCV000117497] Chr2:169206321..169206322 [GRCh38]
Chr2:170062831..170062832 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2618A>G (p.Asn873Ser) single nucleotide variant not provided [RCV000117521] Chr2:169257145 [GRCh38]
Chr2:170113655 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2738T>C (p.Met913Thr) single nucleotide variant not provided [RCV000117522] Chr2:169256138 [GRCh38]
Chr2:170112648 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4766G>A (p.Arg1589His) single nucleotide variant Donnai-Barrow syndrome [RCV000406020]|not provided [RCV000117533] Chr2:169235994 [GRCh38]
Chr2:170092504 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.7742C>T (p.Thr2581Met) single nucleotide variant not provided [RCV000117546] Chr2:169204245 [GRCh38]
Chr2:170060755 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.910G>A (p.Gly304Arg) single nucleotide variant not provided [RCV000117552] Chr2:169290857 [GRCh38]
Chr2:170147367 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) single nucleotide variant Donnai-Barrow syndrome [RCV000300800]|not specified [RCV000117498] Chr2:169176479 [GRCh38]
Chr2:170032989 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) single nucleotide variant Donnai-Barrow syndrome [RCV001135933]|not provided [RCV000514467]|not specified [RCV000117499] Chr2:169174129 [GRCh38]
Chr2:170030639 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) single nucleotide variant Donnai-Barrow syndrome [RCV000679855]|not provided [RCV000117500]|not specified [RCV000244401] Chr2:169173147 [GRCh38]
Chr2:170029657 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) single nucleotide variant Donnai-Barrow syndrome [RCV000263671]|not specified [RCV000117501] Chr2:169168573 [GRCh38]
Chr2:170025083 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) single nucleotide variant Donnai-Barrow syndrome [RCV000266044]|not provided [RCV000224539]|not specified [RCV000117502] Chr2:169282877 [GRCh38]
Chr2:170139387 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.1172-8G>A single nucleotide variant Donnai-Barrow syndrome [RCV001129718]|not provided [RCV000954236]|not specified [RCV000117503] Chr2:169280527 [GRCh38]
Chr2:170137037 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.11759-5T>G single nucleotide variant Donnai-Barrow syndrome [RCV000394189]|not provided [RCV000224175]|not specified [RCV000117504] Chr2:169162605 [GRCh38]
Chr2:170019115 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) single nucleotide variant Donnai-Barrow syndrome [RCV000313258]|not provided [RCV000972640]|not specified [RCV000117505] Chr2:169157394 [GRCh38]
Chr2:170013904 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His) single nucleotide variant Donnai-Barrow syndrome [RCV001135812]|not provided [RCV000117506] Chr2:169156300 [GRCh38]
Chr2:170012810 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.12151+4T>C single nucleotide variant Donnai-Barrow syndrome [RCV000394188]|not provided [RCV000955980]|not specified [RCV000117507] Chr2:169156270 [GRCh38]
Chr2:170012780 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) single nucleotide variant Donnai-Barrow syndrome [RCV000310751]|not specified [RCV000117508] Chr2:169154475 [GRCh38]
Chr2:170010985 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) single nucleotide variant Donnai-Barrow syndrome [RCV000372220]|not specified [RCV000117509] Chr2:169146922 [GRCh38]
Chr2:170003432 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) single nucleotide variant Donnai-Barrow syndrome [RCV000272495]|not specified [RCV000117510] Chr2:169140541 [GRCh38]
Chr2:169997051 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) single nucleotide variant Donnai-Barrow syndrome [RCV000364802]|not provided [RCV000961416]|not specified [RCV000117511] Chr2:169140520 [GRCh38]
Chr2:169997030 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.13155C>T (p.His4385=) single nucleotide variant Donnai-Barrow syndrome [RCV000303202]|not specified [RCV000117512] Chr2:169140499 [GRCh38]
Chr2:169997009 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) single nucleotide variant Donnai-Barrow syndrome [RCV000397342]|not specified [RCV000117513] Chr2:169139560 [GRCh38]
Chr2:169996070 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) single nucleotide variant Donnai-Barrow syndrome [RCV000314536]|not specified [RCV000117514] Chr2:169273037 [GRCh38]
Chr2:170129547 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.2025C>T (p.Val675=) single nucleotide variant Donnai-Barrow syndrome [RCV000404343]|not specified [RCV000117515] Chr2:169273018 [GRCh38]
Chr2:170129528 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.2175C>T (p.Thr725=) single nucleotide variant Donnai-Barrow syndrome [RCV001133254]|not provided [RCV000971484]|not specified [RCV000117516] Chr2:169271049 [GRCh38]
Chr2:170127559 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) single nucleotide variant Donnai-Barrow syndrome [RCV000384323]|not specified [RCV000117517] Chr2:169259162 [GRCh38]
Chr2:170115672 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) single nucleotide variant Donnai-Barrow syndrome [RCV000288847]|not specified [RCV000117518] Chr2:169259078 [GRCh38]
Chr2:170115588 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000340258]|not specified [RCV000117519] Chr2:169318824 [GRCh38]
Chr2:170175334 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) single nucleotide variant Donnai-Barrow syndrome [RCV001134613]|Intellectual disability [RCV001252555]|not provided [RCV000117520] Chr2:169257160 [GRCh38]
Chr2:170113670 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) single nucleotide variant Donnai-Barrow syndrome [RCV000369606]|not specified [RCV000117523] Chr2:169246841 [GRCh38]
Chr2:170103351 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) single nucleotide variant Donnai-Barrow syndrome [RCV000314964]|not specified [RCV000117524] Chr2:169246826 [GRCh38]
Chr2:170103336 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.3295C>T (p.His1099Tyr) single nucleotide variant not provided [RCV000117525] Chr2:169244828 [GRCh38]
Chr2:170101338 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) single nucleotide variant Donnai-Barrow syndrome [RCV000402751]|Intellectual disability [RCV001252554]|not provided [RCV000952827]|not specified [RCV000117526] Chr2:169243501 [GRCh38]
Chr2:170100011 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) single nucleotide variant Donnai-Barrow syndrome [RCV000282794]|not specified [RCV000117527] Chr2:169242963 [GRCh38]
Chr2:170099473 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) single nucleotide variant Donnai-Barrow syndrome [RCV000371716]|not specified [RCV000117528] Chr2:169241197 [GRCh38]
Chr2:170097707 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.402C>A (p.Pro134=) single nucleotide variant Donnai-Barrow syndrome [RCV000282882]|not specified [RCV000117529] Chr2:169307306 [GRCh38]
Chr2:170163816 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.4046-6T>C single nucleotide variant Donnai-Barrow syndrome [RCV000277717]|not specified [RCV000117530] Chr2:169239781 [GRCh38]
Chr2:170096291 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) single nucleotide variant Donnai-Barrow syndrome [RCV000331546]|not specified [RCV000117531] Chr2:169239585 [GRCh38]
Chr2:170096095 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.4344C>G (p.Ala1448=) single nucleotide variant Donnai-Barrow syndrome [RCV000271663]|not provided [RCV000955984]|not specified [RCV000117532] Chr2:169238253 [GRCh38]
Chr2:170094763 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) single nucleotide variant Donnai-Barrow syndrome [RCV000335299]|not specified [RCV000117534] Chr2:169235885 [GRCh38]
Chr2:170092395 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.5085G>A (p.Ser1695=) single nucleotide variant Donnai-Barrow syndrome [RCV000387664]|not provided [RCV000948250]|not specified [RCV000117535] Chr2:169233424 [GRCh38]
Chr2:170089934 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) single nucleotide variant Donnai-Barrow syndrome [RCV000292263]|not specified [RCV000117536] Chr2:169231841 [GRCh38]
Chr2:170088351 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) single nucleotide variant Donnai-Barrow syndrome [RCV000326929]|not provided [RCV000514896]|not specified [RCV000117537] Chr2:169226523 [GRCh38]
Chr2:170083033 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) single nucleotide variant Donnai-Barrow syndrome [RCV000300980]|not specified [RCV000117538] Chr2:169213838 [GRCh38]
Chr2:170070348 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.6045C>T (p.Ala2015=) single nucleotide variant Donnai-Barrow syndrome [RCV000404507]|not provided [RCV000955983]|not specified [RCV000117539] Chr2:169212203 [GRCh38]
Chr2:170068713 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr) single nucleotide variant Donnai-Barrow syndrome [RCV001129276]|not provided [RCV000881210]|not specified [RCV000117540] Chr2:169212054 [GRCh38]
Chr2:170068564 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.639C>T (p.Asp213=) single nucleotide variant Donnai-Barrow syndrome [RCV000330283]|not specified [RCV000117541] Chr2:169294161 [GRCh38]
Chr2:170150671 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.63G>C (p.Ala21=) single nucleotide variant Donnai-Barrow syndrome [RCV000366077]|not specified [RCV000117542] Chr2:169362337 [GRCh38]
Chr2:170218847 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) single nucleotide variant Donnai-Barrow syndrome [RCV000318071]|not specified [RCV000117543] Chr2:169206961 [GRCh38]
Chr2:170063471 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) single nucleotide variant Donnai-Barrow syndrome [RCV000285819]|not specified [RCV000117544] Chr2:169205568 [GRCh38]
Chr2:170062078 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.769+9G>A single nucleotide variant not provided [RCV000970081]|not specified [RCV000117545] Chr2:169292244 [GRCh38]
Chr2:170148754 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg) single nucleotide variant Donnai-Barrow syndrome [RCV000365067]|not specified [RCV000117547] Chr2:169290992 [GRCh38]
Chr2:170147502 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) single nucleotide variant Donnai-Barrow syndrome [RCV000320175]|not specified [RCV000117548] Chr2:169204093 [GRCh38]
Chr2:170060603 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) single nucleotide variant Donnai-Barrow syndrome [RCV000373717]|Intellectual disability [RCV001252314]|not provided [RCV000117549] Chr2:169202833 [GRCh38]
Chr2:170059343 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) single nucleotide variant Donnai-Barrow syndrome [RCV000272307]|not specified [RCV000117550] Chr2:169196995 [GRCh38]
Chr2:170053505 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.9033-8T>C single nucleotide variant Donnai-Barrow syndrome [RCV000402967]|not provided [RCV000958589]|not specified [RCV000117551] Chr2:169188273 [GRCh38]
Chr2:170044783 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.923-6G>A single nucleotide variant Donnai-Barrow syndrome [RCV000362047]|not provided [RCV000117553]|not specified [RCV000246598] Chr2:169289151 [GRCh38]
Chr2:170145661 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) single nucleotide variant Donnai-Barrow syndrome [RCV000362234]|not provided [RCV000961998]|not specified [RCV000117554] Chr2:169320872 [GRCh38]
Chr2:170177382 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.5289T>G (p.Pro1763=) single nucleotide variant Donnai-Barrow syndrome [RCV000363003] Chr2:169226527 [GRCh38]
Chr2:170083037 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.428-4A>G single nucleotide variant Donnai-Barrow syndrome [RCV001331255] Chr2:169294714 [GRCh38]
Chr2:170151224 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.667G>A (p.Gly223Ser) single nucleotide variant Donnai-Barrow syndrome [RCV001291764] Chr2:169292355 [GRCh38]
Chr2:170148865 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1 copy number loss See cases [RCV000137054] Chr2:169206895..170039471 [GRCh38]
Chr2:170063405..170895981 [GRCh37]
Chr2:169771651..170604227 [NCBI36]
Chr2:2q31.1
uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1 copy number loss See cases [RCV000139461] Chr2:168884350..169959279 [GRCh38]
Chr2:169740860..170815789 [GRCh37]
Chr2:169449106..170524035 [NCBI36]
Chr2:2q24.3-31.1
uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=) single nucleotide variant not specified [RCV000192481] Chr2:169202796 [GRCh38]
Chr2:170059306 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe) single nucleotide variant Donnai-Barrow syndrome [RCV001132932]|not provided [RCV000657949]|not specified [RCV000192605] Chr2:169231732 [GRCh38]
Chr2:170088242 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.1018C>G (p.His340Asp) single nucleotide variant not specified [RCV000193030] Chr2:169289050 [GRCh38]
Chr2:170145560 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.39C>T (p.Leu13=) single nucleotide variant not provided [RCV000970429]|not specified [RCV000193179] Chr2:169362361 [GRCh38]
Chr2:170218871 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.2485C>T (p.Arg829Trp) single nucleotide variant Donnai-Barrow syndrome [RCV000765534]|not specified [RCV000193198] Chr2:169259053 [GRCh38]
Chr2:170115563 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6442C>T (p.Arg2148Trp) single nucleotide variant not specified [RCV000193428] Chr2:169209480 [GRCh38]
Chr2:170065990 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1 copy number loss See cases [RCV000167568] Chr2:167996718..170671886 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) single nucleotide variant Donnai-Barrow syndrome [RCV000406573]|not provided [RCV000970603]|not specified [RCV000193794] Chr2:169191972 [GRCh38]
Chr2:170048482 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.12296-4G>A single nucleotide variant Donnai-Barrow syndrome [RCV000341069]|not specified [RCV000193876] Chr2:169152968 [GRCh38]
Chr2:170009478 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) single nucleotide variant Donnai-Barrow syndrome [RCV000374226]|not provided [RCV000423936]|not specified [RCV000194145] Chr2:169137402 [GRCh38]
Chr2:169993912 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe) single nucleotide variant Donnai-Barrow syndrome [RCV000366184]|not provided [RCV000879518]|not specified [RCV000194393] Chr2:169238246 [GRCh38]
Chr2:170094756 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys) single nucleotide variant Donnai-Barrow syndrome [RCV000395320]|not provided [RCV000766387]|not specified [RCV000194500] Chr2:169246785 [GRCh38]
Chr2:170103295 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.987G>A (p.Ala329=) single nucleotide variant Donnai-Barrow syndrome [RCV000305043]|not provided [RCV000882566]|not specified [RCV000194643] Chr2:169289081 [GRCh38]
Chr2:170145591 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) single nucleotide variant Donnai-Barrow syndrome [RCV000349771]|not provided [RCV000487704]|not specified [RCV000194974] Chr2:169132617 [GRCh38]
Chr2:169989127 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly) single nucleotide variant Donnai-Barrow syndrome [RCV000387234]|not provided [RCV000766599]|not specified [RCV000195081] Chr2:169146825 [GRCh38]
Chr2:170003335 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.453T>G (p.Thr151=) single nucleotide variant Donnai-Barrow syndrome [RCV000387113] Chr2:169294685 [GRCh38]
Chr2:170151195 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=) single nucleotide variant Donnai-Barrow syndrome [RCV000262158]|not provided [RCV000908743] Chr2:169146863 [GRCh38]
Chr2:170003373 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) single nucleotide variant Donnai-Barrow syndrome [RCV000389214]|not provided [RCV000953680] Chr2:169128828 [GRCh38]
Chr2:169985338 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.7007G>A (p.Arg2336Gln) single nucleotide variant Donnai-Barrow syndrome [RCV000396520] Chr2:169206713 [GRCh38]
Chr2:170063223 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10647G>A (p.Pro3549=) single nucleotide variant Donnai-Barrow syndrome [RCV000396622]|not provided [RCV000894715] Chr2:169175314 [GRCh38]
Chr2:170031824 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.4561C>T (p.Arg1521Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000397198] Chr2:169237233 [GRCh38]
Chr2:170093743 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5702C>G (p.Ala1901Gly) single nucleotide variant Donnai-Barrow syndrome [RCV000399015]|not provided [RCV000946648] Chr2:169216377 [GRCh38]
Chr2:170072887 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.4855C>A (p.Leu1619Ile) single nucleotide variant Donnai-Barrow syndrome [RCV000402936] Chr2:169235905 [GRCh38]
Chr2:170092415 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.7431T>C (p.Thr2477=) single nucleotide variant Donnai-Barrow syndrome [RCV000403398]|not provided [RCV001327092] Chr2:169206148 [GRCh38]
Chr2:170062658 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) single nucleotide variant Donnai-Barrow syndrome [RCV000403496]|not provided [RCV000965620] Chr2:169154468 [GRCh38]
Chr2:170010978 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.170C>T (p.Ala57Val) single nucleotide variant Donnai-Barrow syndrome [RCV000405564]|not provided [RCV000884391] Chr2:169320794 [GRCh38]
Chr2:170177304 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn) single nucleotide variant Donnai-Barrow syndrome [RCV000405944] Chr2:169307305 [GRCh38]
Chr2:170163815 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) deletion Donnai-Barrow syndrome [RCV000192936]|not provided [RCV000731873] Chr2:169140515 [GRCh38]
Chr2:169997025 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.7715+3A>T single nucleotide variant not specified [RCV000194284] Chr2:169205476 [GRCh38]
Chr2:170061986 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3973T>C (p.Cys1325Arg) single nucleotide variant not specified [RCV000194955] Chr2:169241060 [GRCh38]
Chr2:170097570 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2320+9G>A single nucleotide variant Donnai-Barrow syndrome [RCV000292302]|not provided [RCV000902568] Chr2:169270895 [GRCh38]
Chr2:170127405 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.5648+7A>C single nucleotide variant Donnai-Barrow syndrome [RCV000302306] Chr2:169220447 [GRCh38]
Chr2:170076957 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6040+15C>T single nucleotide variant Donnai-Barrow syndrome [RCV000296089] Chr2:169213642 [GRCh38]
Chr2:170070152 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=) single nucleotide variant Donnai-Barrow syndrome [RCV000303956]|not provided [RCV000913132] Chr2:169177963 [GRCh38]
Chr2:170034473 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.9128G>A (p.Arg3043His) single nucleotide variant Donnai-Barrow syndrome [RCV000293970] Chr2:169188170 [GRCh38]
Chr2:170044680 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=) single nucleotide variant Donnai-Barrow syndrome [RCV000294850]|not provided [RCV000916221] Chr2:169186006 [GRCh38]
Chr2:170042516 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.6784C>T (p.Arg2262Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000298357] Chr2:169206936 [GRCh38]
Chr2:170063446 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13380G>C (p.Lys4460Asn) single nucleotide variant Donnai-Barrow syndrome [RCV000304458] Chr2:169139259 [GRCh38]
Chr2:169995769 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.770-12T>C single nucleotide variant Donnai-Barrow syndrome [RCV000272776] Chr2:169291009 [GRCh38]
Chr2:170147519 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9591C>T (p.Ile3197=) single nucleotide variant Donnai-Barrow syndrome [RCV000272702] Chr2:169185757 [GRCh38]
Chr2:170042267 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8276G>A (p.Arg2759His) single nucleotide variant Donnai-Barrow syndrome [RCV000273394] Chr2:169201804 [GRCh38]
Chr2:170058314 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2934G>A (p.Thr978=) single nucleotide variant Donnai-Barrow syndrome [RCV000260864]|not provided [RCV000889094] Chr2:169246961 [GRCh38]
Chr2:170103471 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.6810G>A (p.Val2270=) single nucleotide variant Donnai-Barrow syndrome [RCV000276003]|not provided [RCV000946646] Chr2:169206910 [GRCh38]
Chr2:170063420 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.7801T>C (p.Tyr2601His) single nucleotide variant Donnai-Barrow syndrome [RCV000284826] Chr2:169204186 [GRCh38]
Chr2:170060696 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3734C>T (p.Pro1245Leu) single nucleotide variant Donnai-Barrow syndrome [RCV000262972] Chr2:169241299 [GRCh38]
Chr2:170097809 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6766G>T (p.Asp2256Tyr) single nucleotide variant Donnai-Barrow syndrome [RCV000262897] Chr2:169206954 [GRCh38]
Chr2:170063464 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12811+12G>A single nucleotide variant Donnai-Barrow syndrome [RCV000277610] Chr2:169146727 [GRCh38]
Chr2:170003237 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.6545G>A (p.Arg2182His) single nucleotide variant Donnai-Barrow syndrome [RCV000263943] Chr2:169207175 [GRCh38]
Chr2:170063685 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9999-6T>C single nucleotide variant Donnai-Barrow syndrome [RCV000264462] Chr2:169181624 [GRCh38]
Chr2:170038134 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9032+6T>C single nucleotide variant Donnai-Barrow syndrome [RCV000278840] Chr2:169191826 [GRCh38]
Chr2:170048336 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.428-10_428-8del deletion Donnai-Barrow syndrome [RCV000280094] Chr2:169294718..169294720 [GRCh38]
Chr2:170151228..170151230 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) single nucleotide variant Donnai-Barrow syndrome [RCV000289035]|not provided [RCV000946647] Chr2:169211981 [GRCh38]
Chr2:170068491 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.5538+10C>T single nucleotide variant Donnai-Barrow syndrome [RCV000267129]|not provided [RCV000918712] Chr2:169225300 [GRCh38]
Chr2:170081810 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=) single nucleotide variant Donnai-Barrow syndrome [RCV000267309]|not provided [RCV000920713] Chr2:169169721 [GRCh38]
Chr2:170026231 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.2513+14T>C single nucleotide variant Donnai-Barrow syndrome [RCV000268247] Chr2:169259011 [GRCh38]
Chr2:170115521 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.4849T>A (p.Ser1617Thr) single nucleotide variant Donnai-Barrow syndrome [RCV000281523] Chr2:169235911 [GRCh38]
Chr2:170092421 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.863G>A (p.Gly288Glu) single nucleotide variant Donnai-Barrow syndrome [RCV000269689] Chr2:169290904 [GRCh38]
Chr2:170147414 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13937C>T (p.Ala4646Val) single nucleotide variant Donnai-Barrow syndrome [RCV000270623] Chr2:169128694 [GRCh38]
Chr2:169985204 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=) single nucleotide variant Donnai-Barrow syndrome [RCV000260356]|not provided [RCV000924419] Chr2:169202853 [GRCh38]
Chr2:170059363 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.5123G>A (p.Arg1708His) single nucleotide variant Donnai-Barrow syndrome [RCV000272375] Chr2:169231818 [GRCh38]
Chr2:170088328 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3551-9C>A single nucleotide variant Donnai-Barrow syndrome [RCV000378366]|not provided [RCV000898572] Chr2:169243081 [GRCh38]
Chr2:170099591 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.7627G>A (p.Val2543Ile) single nucleotide variant Donnai-Barrow syndrome [RCV000380478] Chr2:169205567 [GRCh38]
Chr2:170062077 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=) single nucleotide variant Donnai-Barrow syndrome [RCV000382132]|not provided [RCV000879634] Chr2:169185985 [GRCh38]
Chr2:170042495 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.9683A>G (p.Asn3228Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000364870] Chr2:169185665 [GRCh38]
Chr2:170042175 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11264-14C>G single nucleotide variant Donnai-Barrow syndrome [RCV000384955] Chr2:169170681 [GRCh38]
Chr2:170027191 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8699-8C>T single nucleotide variant Donnai-Barrow syndrome [RCV000366608]|not provided [RCV000893361] Chr2:169193900 [GRCh38]
Chr2:170050410 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.4092T>C (p.Cys1364=) single nucleotide variant Donnai-Barrow syndrome [RCV000367473] Chr2:169239729 [GRCh38]
Chr2:170096239 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8453-11T>C single nucleotide variant Donnai-Barrow syndrome [RCV000367954] Chr2:169198922 [GRCh38]
Chr2:170055432 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=) single nucleotide variant Donnai-Barrow syndrome [RCV000371052]|not provided [RCV000964453] Chr2:169206753 [GRCh38]
Chr2:170063263 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.11769G>A (p.Pro3923=) single nucleotide variant Donnai-Barrow syndrome [RCV000371397] Chr2:169162590 [GRCh38]
Chr2:170019100 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.428-8del deletion Donnai-Barrow syndrome [RCV000372226]|not provided [RCV000961997] Chr2:169294718 [GRCh38]
Chr2:170151228 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=) single nucleotide variant Donnai-Barrow syndrome [RCV000376808] Chr2:169170609 [GRCh38]
Chr2:170027119 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6575C>G (p.Pro2192Arg) single nucleotide variant Donnai-Barrow syndrome [RCV000377284] Chr2:169207145 [GRCh38]
Chr2:170063655 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3667+10A>G single nucleotide variant Donnai-Barrow syndrome [RCV000377347] Chr2:169242946 [GRCh38]
Chr2:170099456 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:170009392-170072852)x3 copy number gain Ductal breast carcinoma [RCV000207321] Chr2:170009392..170072852 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2474T>G (p.Leu825Ter) single nucleotide variant Donnai-Barrow syndrome [RCV000767863] Chr2:169259064 [GRCh38]
Chr2:170115574 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.8854G>A (p.Glu2952Lys) single nucleotide variant Donnai-Barrow syndrome [RCV000305905] Chr2:169192010 [GRCh38]
Chr2:170048520 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4691+15T>A single nucleotide variant Donnai-Barrow syndrome [RCV000306140] Chr2:169237088 [GRCh38]
Chr2:170093598 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:170051329-170213930)x3 copy number gain Premature ovarian failure [RCV000225305] Chr2:170051329..170213930 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.2476A>T (p.Asn826Tyr) single nucleotide variant Donnai-Barrow syndrome [RCV000382680]|not provided [RCV000224140] Chr2:169259062 [GRCh38]
Chr2:170115572 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.17C>A (p.Ala6Glu) single nucleotide variant not provided [RCV000224450] Chr2:169362383 [GRCh38]
Chr2:170218893 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12639C>T (p.Ala4213=) single nucleotide variant Donnai-Barrow syndrome [RCV000319923] Chr2:169146911 [GRCh38]
Chr2:170003421 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4691+7del deletion Donnai-Barrow syndrome [RCV000360868] Chr2:169237096 [GRCh38]
Chr2:170093606 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10170-15T>G single nucleotide variant Donnai-Barrow syndrome [RCV000360984] Chr2:169178041 [GRCh38]
Chr2:170034551 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.5553C>T (p.His1851=) single nucleotide variant Donnai-Barrow syndrome [RCV000361809]|not provided [RCV000907600] Chr2:169220549 [GRCh38]
Chr2:170077059 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=) single nucleotide variant Donnai-Barrow syndrome [RCV000330349] Chr2:169146794 [GRCh38]
Chr2:170003304 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) single nucleotide variant Donnai-Barrow syndrome [RCV000323402]|not provided [RCV000897492]|not specified [RCV000331166] Chr2:169259027 [GRCh38]
Chr2:170115537 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) single nucleotide variant Donnai-Barrow syndrome [RCV000324527]|not provided [RCV000972685] Chr2:169170585 [GRCh38]
Chr2:170027095 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.9442C>A (p.Arg3148=) single nucleotide variant Donnai-Barrow syndrome [RCV000325240] Chr2:169185906 [GRCh38]
Chr2:170042416 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12989-14C>T single nucleotide variant Donnai-Barrow syndrome [RCV000306628] Chr2:169142807 [GRCh38]
Chr2:169999317 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4503A>G (p.Arg1501=) single nucleotide variant Donnai-Barrow syndrome [RCV000306953] Chr2:169238094 [GRCh38]
Chr2:170094604 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6040+3A>G single nucleotide variant Donnai-Barrow syndrome [RCV000336134] Chr2:169213654 [GRCh38]
Chr2:170070164 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.428-8T>A single nucleotide variant Donnai-Barrow syndrome [RCV000336860] Chr2:169294718 [GRCh38]
Chr2:170151228 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9040C>T (p.Arg3014Trp) single nucleotide variant Donnai-Barrow syndrome [RCV000337212]|not provided [RCV001350885]|not specified [RCV000499493] Chr2:169188258 [GRCh38]
Chr2:170044768 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11759-11T>G single nucleotide variant Donnai-Barrow syndrome [RCV000313111] Chr2:169162611 [GRCh38]
Chr2:170019121 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000332291]|Global developmental delay [RCV001254976]|not provided [RCV000937936] Chr2:169128710 [GRCh38]
Chr2:169985220 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.8245G>T (p.Ala2749Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000333011] Chr2:169201835 [GRCh38]
Chr2:170058345 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9234C>T (p.His3078=) single nucleotide variant Donnai-Barrow syndrome [RCV000333510]|not provided [RCV000904987] Chr2:169188064 [GRCh38]
Chr2:170044574 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.428-9_428-8del deletion Donnai-Barrow syndrome [RCV000333903] Chr2:169294718..169294719 [GRCh38]
Chr2:170151228..170151229 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.13422G>A (p.Gly4474=) single nucleotide variant Donnai-Barrow syndrome [RCV000334779] Chr2:169138673 [GRCh38]
Chr2:169995183 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5115C>T (p.Ala1705=) single nucleotide variant Donnai-Barrow syndrome [RCV000327405] Chr2:169231826 [GRCh38]
Chr2:170088336 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11269C>T (p.Arg3757Trp) single nucleotide variant Donnai-Barrow syndrome [RCV000327844] Chr2:169170662 [GRCh38]
Chr2:170027172 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13380G>A (p.Lys4460=) single nucleotide variant Donnai-Barrow syndrome [RCV000342932] Chr2:169139259 [GRCh38]
Chr2:169995769 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=) single nucleotide variant Donnai-Barrow syndrome [RCV000344082] Chr2:169243458 [GRCh38]
Chr2:170099968 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6256A>T (p.Thr2086Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000344129]|not provided [RCV000969931] Chr2:169211992 [GRCh38]
Chr2:170068502 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.7498C>T (p.Arg2500Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000345428] Chr2:169206081 [GRCh38]
Chr2:170062591 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) single nucleotide variant Donnai-Barrow syndrome [RCV000345477] Chr2:169174027 [GRCh38]
Chr2:170030537 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_004525.3(LRP2):c.3667+13T>A single nucleotide variant Donnai-Barrow syndrome [RCV000318128] Chr2:169242943 [GRCh38]
Chr2:170099453 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.8778C>T (p.Asp2926=) single nucleotide variant Donnai-Barrow syndrome [RCV000339860] Chr2:169193813 [GRCh38]
Chr2:170050323 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4815T>C (p.Ile1605=) single nucleotide variant Donnai-Barrow syndrome [RCV000340929] Chr2:169235945 [GRCh38]
Chr2:170092455 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12462-13C>T single nucleotide variant Donnai-Barrow syndrome [RCV000342011] Chr2:169151039 [GRCh38]
Chr2:170007549 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) single nucleotide variant Donnai-Barrow syndrome [RCV000349472]|not provided [RCV000954599] Chr2:169272964 [GRCh38]
Chr2:170129474 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.10687G>A (p.Gly3563Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000349711] Chr2:169175274 [GRCh38]
Chr2:170031784 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) single nucleotide variant Donnai-Barrow syndrome [RCV000349741]|not provided [RCV000883907] Chr2:169212200 [GRCh38]
Chr2:170068710 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000349943]|not provided [RCV000916209] Chr2:169246773 [GRCh38]
Chr2:170103283 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.64C>T (p.Pro22Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000309024] Chr2:169362336 [GRCh38]
Chr2:170218846 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000309080]|not provided [RCV000899526] Chr2:169246767 [GRCh38]
Chr2:170103277 [GRCh37]
Chr2:2q31.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.2450C>T (p.Thr817Met) single nucleotide variant Donnai-Barrow syndrome [RCV000346121] Chr2:169259088 [GRCh38]
Chr2:170115598 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6770T>C (p.Ile2257Thr) single nucleotide variant Donnai-Barrow syndrome [RCV000353288] Chr2:169206950 [GRCh38]
Chr2:170063460 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) single nucleotide variant Donnai-Barrow syndrome [RCV000353350]|not provided [RCV000514262] Chr2:169176579 [GRCh38]
Chr2:170033089 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.11498-13T>C single nucleotide variant Donnai-Barrow syndrome [RCV000355022] Chr2:169168689 [GRCh38]
Chr2:170025199 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2885C>T (p.Ser962Leu) single nucleotide variant Donnai-Barrow syndrome [RCV000357068] Chr2:169247401 [GRCh38]
Chr2:170103911 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1055G>T (p.Cys352Phe) single nucleotide variant Inborn genetic diseases [RCV000623495] Chr2:169282989 [GRCh38]
Chr2:170139499 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9845+5G>A single nucleotide variant Donnai-Barrow syndrome [RCV000321978] Chr2:169185498 [GRCh38]
Chr2:170042008 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4035C>T (p.Ser1345=) single nucleotide variant not provided [RCV000906567]|not specified [RCV000243606] Chr2:169240998 [GRCh38]
Chr2:170097508 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.-147G>C single nucleotide variant Donnai-Barrow syndrome [RCV000273690] Chr2:169362546 [GRCh38]
Chr2:170219056 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000283599]|not provided [RCV000952825] Chr2:169152881 [GRCh38]
Chr2:170009391 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.11270G>A (p.Arg3757Gln) single nucleotide variant Donnai-Barrow syndrome [RCV000284521] Chr2:169170661 [GRCh38]
Chr2:170027171 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12591-8T>C single nucleotide variant Donnai-Barrow syndrome [RCV000279941] Chr2:169146967 [GRCh38]
Chr2:170003477 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp) single nucleotide variant Donnai-Barrow syndrome [RCV000280265]|Inborn genetic diseases [RCV000624378]|Intellectual disability [RCV001252556] Chr2:169233504 [GRCh38]
Chr2:170090014 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*444G>A single nucleotide variant Donnai-Barrow syndrome [RCV000268258] Chr2:169128219 [GRCh38]
Chr2:169984729 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.3667+20A>C single nucleotide variant not specified [RCV000248691] Chr2:169242936 [GRCh38]
Chr2:170099446 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.11498-13del deletion Donnai-Barrow syndrome [RCV000316512]|not specified [RCV000249164] Chr2:169168689 [GRCh38]
Chr2:170025199 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.79+15A>G single nucleotide variant Donnai-Barrow syndrome [RCV000397015]|not specified [RCV000251639] Chr2:169362306 [GRCh38]
Chr2:170218816 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.6035G>A (p.Arg2012Lys) single nucleotide variant Donnai-Barrow syndrome [RCV000403701]|not specified [RCV000254182] Chr2:169213662 [GRCh38]
Chr2:170070172 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) single nucleotide variant Donnai-Barrow syndrome [RCV001136469]|not provided [RCV000893636]|not specified [RCV000252171] Chr2:169242964 [GRCh38]
Chr2:170099474 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) single nucleotide variant Donnai-Barrow syndrome [RCV000346717]|not specified [RCV000242503] Chr2:169206467 [GRCh38]
Chr2:170062977 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.3550+18T>G single nucleotide variant not specified [RCV000247420] Chr2:169243385 [GRCh38]
Chr2:170099895 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.3550+14C>T single nucleotide variant Donnai-Barrow syndrome [RCV000288678]|not specified [RCV000242627] Chr2:169243389 [GRCh38]
Chr2:170099899 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.769+18T>C single nucleotide variant not specified [RCV000250341] Chr2:169292235 [GRCh38]
Chr2:170148745 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.*253T>C single nucleotide variant Donnai-Barrow syndrome [RCV000271868] Chr2:169128410 [GRCh38]
Chr2:169984920 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.4294+19C>T single nucleotide variant not specified [RCV000243290] Chr2:169239508 [GRCh38]
Chr2:170096018 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.*544T>C single nucleotide variant Donnai-Barrow syndrome [RCV000298976] Chr2:169128119 [GRCh38]
Chr2:169984629 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=) single nucleotide variant Donnai-Barrow syndrome [RCV000374628]|not provided [RCV000970604] Chr2:169204121 [GRCh38]
Chr2:170060631 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.13384C>T (p.Pro4462Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000397348] Chr2:169139255 [GRCh38]
Chr2:169995765 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1373A>T single nucleotide variant Donnai-Barrow syndrome [RCV000354792] Chr2:169127290 [GRCh38]
Chr2:169983800 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) single nucleotide variant Donnai-Barrow syndrome [RCV000376820]|not provided [RCV000734955] Chr2:169257164 [GRCh38]
Chr2:170113674 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000301446]|not provided [RCV000885594] Chr2:169275038 [GRCh38]
Chr2:170131548 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=) single nucleotide variant Donnai-Barrow syndrome [RCV000336297]|not provided [RCV000881799] Chr2:169191963 [GRCh38]
Chr2:170048473 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.5827-7C>A single nucleotide variant Donnai-Barrow syndrome [RCV000355834] Chr2:169213877 [GRCh38]
Chr2:170070387 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His) single nucleotide variant Donnai-Barrow syndrome [RCV000356222]|not provided [RCV000883678] Chr2:169166027 [GRCh38]
Chr2:170022537 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.6420T>C (p.His2140=) single nucleotide variant Donnai-Barrow syndrome [RCV000378869] Chr2:169209502 [GRCh38]
Chr2:170066012 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1386A>T single nucleotide variant Donnai-Barrow syndrome [RCV000318725] Chr2:169127277 [GRCh38]
Chr2:169983787 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*297A>G single nucleotide variant Donnai-Barrow syndrome [RCV000359472] Chr2:169128366 [GRCh38]
Chr2:169984876 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.*18G>A single nucleotide variant Donnai-Barrow syndrome [RCV000381442] Chr2:169128645 [GRCh38]
Chr2:169985155 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.1973A>T (p.Tyr658Phe) single nucleotide variant Donnai-Barrow syndrome [RCV000404075] Chr2:169275038 [GRCh38]
Chr2:170131548 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10992G>A (p.Ser3664=) single nucleotide variant Donnai-Barrow syndrome [RCV000288279] Chr2:169173941 [GRCh38]
Chr2:170030451 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000305070]|not provided [RCV000514544] Chr2:169320815 [GRCh38]
Chr2:170177325 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met) single nucleotide variant Donnai-Barrow syndrome [RCV000339874]|not provided [RCV000997304] Chr2:169204240 [GRCh38]
Chr2:170060750 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*481A>G single nucleotide variant Donnai-Barrow syndrome [RCV000360605] Chr2:169128182 [GRCh38]
Chr2:169984692 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1118T>G single nucleotide variant Donnai-Barrow syndrome [RCV000290873] Chr2:169127545 [GRCh38]
Chr2:169984055 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.2726A>G (p.His909Arg) single nucleotide variant Donnai-Barrow syndrome [RCV000322100]|not provided [RCV000946649] Chr2:169256150 [GRCh38]
Chr2:170112660 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr) single nucleotide variant Donnai-Barrow syndrome [RCV000384646]|not provided [RCV000936176] Chr2:169212118 [GRCh38]
Chr2:170068628 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.3617G>A (p.Arg1206His) single nucleotide variant Donnai-Barrow syndrome [RCV000342510] Chr2:169243006 [GRCh38]
Chr2:170099516 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12812-14C>T single nucleotide variant Donnai-Barrow syndrome [RCV000363613] Chr2:169145937 [GRCh38]
Chr2:170002447 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000386568]|not specified [RCV000501299] Chr2:169231834 [GRCh38]
Chr2:170088344 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10768+12C>T single nucleotide variant Donnai-Barrow syndrome [RCV000292461] Chr2:169175181 [GRCh38]
Chr2:170031691 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.6511A>G (p.Ile2171Val) single nucleotide variant Donnai-Barrow syndrome [RCV000323791] Chr2:169207209 [GRCh38]
Chr2:170063719 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1187T>A single nucleotide variant Donnai-Barrow syndrome [RCV000324813] Chr2:169127476 [GRCh38]
Chr2:169983986 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8530G>A (p.Gly2844Arg) single nucleotide variant Donnai-Barrow syndrome [RCV000308633] Chr2:169198834 [GRCh38]
Chr2:170055344 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12165G>C (p.Leu4055Phe) single nucleotide variant Donnai-Barrow syndrome [RCV000344663] Chr2:169154590 [GRCh38]
Chr2:170011100 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.7343A>G (p.Tyr2448Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000310359] Chr2:169206377 [GRCh38]
Chr2:170062887 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*158T>C single nucleotide variant Donnai-Barrow syndrome [RCV000329221] Chr2:169128505 [GRCh38]
Chr2:169985015 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.*739C>G single nucleotide variant Donnai-Barrow syndrome [RCV000396558] Chr2:169127924 [GRCh38]
Chr2:169984434 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.10282A>G (p.Arg3428Gly) single nucleotide variant Donnai-Barrow syndrome [RCV000396613] Chr2:169177914 [GRCh38]
Chr2:170034424 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1381_*1384GATG[6] microsatellite Donnai-Barrow syndrome [RCV000263537] Chr2:169127262..169127263 [GRCh38]
Chr2:169983772..169983773 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.*1222C>T single nucleotide variant Donnai-Barrow syndrome [RCV000260176] Chr2:169127441 [GRCh38]
Chr2:169983951 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13543G>A (p.Gly4515Arg) single nucleotide variant Donnai-Barrow syndrome [RCV000282048] Chr2:169137469 [GRCh38]
Chr2:169993979 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1129dup duplication Donnai-Barrow syndrome [RCV000284856] Chr2:169127533..169127534 [GRCh38]
Chr2:169984043..169984044 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10703C>T (p.Pro3568Leu) single nucleotide variant not provided [RCV000273127] Chr2:169175258 [GRCh38]
Chr2:170031768 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*910dup duplication Donnai-Barrow syndrome [RCV000296745] Chr2:169127752..169127753 [GRCh38]
Chr2:169984262..169984263 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.*1128_*1129dup duplication Donnai-Barrow syndrome [RCV000321299] Chr2:169127533..169127534 [GRCh38]
Chr2:169984043..169984044 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2869A>G (p.Ile957Val) single nucleotide variant Donnai-Barrow syndrome [RCV000262265] Chr2:169247417 [GRCh38]
Chr2:170103927 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*909_*910dup duplication Donnai-Barrow syndrome [RCV000349309] Chr2:169127752..169127753 [GRCh38]
Chr2:169984262..169984263 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1127_*1129dup duplication Donnai-Barrow syndrome [RCV000385124] Chr2:169127533..169127534 [GRCh38]
Chr2:169984043..169984044 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*908_*910dup duplication Donnai-Barrow syndrome [RCV000398084] Chr2:169127752..169127753 [GRCh38]
Chr2:169984262..169984263 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10538C>A (p.Ser3513Tyr) single nucleotide variant not provided [RCV000262073] Chr2:169176444 [GRCh38]
Chr2:170032954 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1639A>G (p.Asn547Asp) single nucleotide variant not provided [RCV000365466] Chr2:169277878 [GRCh38]
Chr2:170134388 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10472G>A (p.Cys3491Tyr) single nucleotide variant not provided [RCV000722655] Chr2:169176510 [GRCh38]
Chr2:170033020 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2237T>C (p.Ile746Thr) single nucleotide variant not provided [RCV000487990] Chr2:169270987 [GRCh38]
Chr2:170127497 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.188-2A>G single nucleotide variant Donnai-Barrow syndrome [RCV000490345] Chr2:169318886 [GRCh38]
Chr2:170175396 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.8892G>T (p.Arg2964Ser) single nucleotide variant not provided [RCV000522739] Chr2:169191972 [GRCh38]
Chr2:170048482 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1607C>G (p.Pro536Arg) single nucleotide variant Inborn genetic diseases [RCV000623416] Chr2:169277910 [GRCh38]
Chr2:170134420 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12453G>C (p.Trp4151Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000380428] Chr2:169152807 [GRCh38]
Chr2:170009317 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.-178G>A single nucleotide variant Donnai-Barrow syndrome [RCV000331084] Chr2:169362577 [GRCh38]
Chr2:170219087 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1107G>T single nucleotide variant Donnai-Barrow syndrome [RCV000345868] Chr2:169127556 [GRCh38]
Chr2:169984066 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13699C>G (p.Pro4567Ala) single nucleotide variant Donnai-Barrow syndrome [RCV000292536] Chr2:169132603 [GRCh38]
Chr2:169989113 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3843A>C (p.Gly1281=) single nucleotide variant Donnai-Barrow syndrome [RCV000332790] Chr2:169241190 [GRCh38]
Chr2:170097700 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5099-5T>C single nucleotide variant Donnai-Barrow syndrome [RCV000333124] Chr2:169231847 [GRCh38]
Chr2:170088357 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*962T>A single nucleotide variant Donnai-Barrow syndrome [RCV000404496] Chr2:169127701 [GRCh38]
Chr2:169984211 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.428-6del deletion Donnai-Barrow syndrome [RCV000295230] Chr2:169294716 [GRCh38]
Chr2:170151226 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2004G>C (p.Gly668=) single nucleotide variant Donnai-Barrow syndrome [RCV000334341] Chr2:169273039 [GRCh38]
Chr2:170129549 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9157G>A (p.Glu3053Lys) single nucleotide variant Donnai-Barrow syndrome [RCV000386017] Chr2:169188141 [GRCh38]
Chr2:170044651 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10769-9T>G single nucleotide variant Donnai-Barrow syndrome [RCV000404687] Chr2:169174173 [GRCh38]
Chr2:170030683 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2908+11T>C single nucleotide variant Donnai-Barrow syndrome [RCV000297522] Chr2:169247367 [GRCh38]
Chr2:170103877 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8702A>G (p.His2901Arg) single nucleotide variant Donnai-Barrow syndrome [RCV000309538] Chr2:169193889 [GRCh38]
Chr2:170050399 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*910del deletion Donnai-Barrow syndrome [RCV000300163] Chr2:169127753 [GRCh38]
Chr2:169984263 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6980C>T (p.Thr2327Ile) single nucleotide variant Donnai-Barrow syndrome [RCV000311765] Chr2:169206740 [GRCh38]
Chr2:170063250 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*824G>T single nucleotide variant Donnai-Barrow syndrome [RCV000357415] Chr2:169127839 [GRCh38]
Chr2:169984349 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) single nucleotide variant Donnai-Barrow syndrome [RCV000607414]|not provided [RCV000963108] Chr2:169152880 [GRCh38]
Chr2:170009390 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.785A>G (p.Asp262Gly) single nucleotide variant Donnai-Barrow syndrome [RCV000327119] Chr2:169290982 [GRCh38]
Chr2:170147492 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1923T>C (p.Ala641=) single nucleotide variant Donnai-Barrow syndrome [RCV000358619] Chr2:169275088 [GRCh38]
Chr2:170131598 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6072C>A (p.Asn2024Lys) single nucleotide variant Donnai-Barrow syndrome [RCV000290089] Chr2:169212176 [GRCh38]
Chr2:170068686 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8731T>A (p.Phe2911Ile) single nucleotide variant Donnai-Barrow syndrome [RCV000397396] Chr2:169193860 [GRCh38]
Chr2:170050370 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*378C>T single nucleotide variant Donnai-Barrow syndrome [RCV000302349] Chr2:169128285 [GRCh38]
Chr2:169984795 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1130_*1131insT insertion Donnai-Barrow syndrome [RCV000379218] Chr2:169127532..169127533 [GRCh38]
Chr2:169984042..169984043 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1176C>T (p.Gly392=) single nucleotide variant not provided [RCV000599575] Chr2:169280515 [GRCh38]
Chr2:170137025 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) single nucleotide variant Donnai-Barrow syndrome [RCV000767862] Chr2:169290935 [GRCh38]
Chr2:170147445 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile) single nucleotide variant not provided [RCV000732277] Chr2:169185871 [GRCh38]
Chr2:170042381 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.13190C>T (p.Pro4397Leu) single nucleotide variant not provided [RCV000733344] Chr2:169140464 [GRCh38]
Chr2:169996974 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) single nucleotide variant not specified [RCV000733346] Chr2:169244812 [GRCh38]
Chr2:170101322 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.5303A>G (p.Asn1768Ser) single nucleotide variant not provided [RCV000733352] Chr2:169226513 [GRCh38]
Chr2:170083023 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) single nucleotide variant Prolactin-producing pituitary gland adenoma [RCV000415435] Chr2:169129060 [GRCh38]
Chr2:169985570 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.2146C>T (p.Gln716Ter) single nucleotide variant not provided [RCV000723002] Chr2:169271078 [GRCh38]
Chr2:170127588 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004525.3(LRP2):c.2474del (p.Tyr824_Leu825insTer) deletion not provided [RCV000522810] Chr2:169259064 [GRCh38]
Chr2:170115574 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro) single nucleotide variant Retinal dystrophy [RCV000504761] Chr2:169236027 [GRCh38]
Chr2:170092537 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.2987G>T (p.Arg996Leu) single nucleotide variant not provided [RCV000434868] Chr2:169246908 [GRCh38]
Chr2:170103418 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr) single nucleotide variant Retinal dystrophy [RCV000504991] Chr2:169185615 [GRCh38]
Chr2:170042125 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe) single nucleotide variant Donnai-Barrow syndrome [RCV001133253]|not provided [RCV000443185] Chr2:169271046 [GRCh38]
Chr2:170127556 [GRCh37]
Chr2:2q31.1
conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.4544C>T (p.Ala1515Val) single nucleotide variant Donnai-Barrow syndrome [RCV001132098]|not provided [RCV000432766] Chr2:169237250 [GRCh38]
Chr2:170093760 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12244G>T (p.Glu4082Ter) single nucleotide variant not provided [RCV000440469] Chr2:169154511 [GRCh38]
Chr2:170011021 [GRCh37]
Chr2:2q31.1
likely pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004525.3(LRP2):c.4295-2A>G single nucleotide variant not provided [RCV000487053] Chr2:169238304 [GRCh38]
Chr2:170094814 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.2321-1G>T single nucleotide variant not provided [RCV000487419] Chr2:169259218 [GRCh38]
Chr2:170115728 [GRCh37]
Chr2:2q31.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004525.3(LRP2):c.7874G>A (p.Gly2625Asp) single nucleotide variant not provided [RCV000513825] Chr2:169204113 [GRCh38]
Chr2:170060623 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) single nucleotide variant Inborn genetic diseases [RCV000622369]|not provided [RCV000734953] Chr2:169170643 [GRCh38]
Chr2:170027153 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1 copy number loss See cases [RCV000512416] Chr2:169727951..170825165 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10704G>A (p.Pro3568=) single nucleotide variant not provided [RCV000512855] Chr2:169175257 [GRCh38]
Chr2:170031767 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12493C>T (p.Arg4165Cys) single nucleotide variant Inborn genetic diseases [RCV000622299] Chr2:169150995 [GRCh38]
Chr2:170007505 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) single nucleotide variant Donnai-Barrow syndrome [RCV001128939]|not provided [RCV000915081]|not specified [RCV000606310] Chr2:169181452 [GRCh38]
Chr2:170037962 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.2639+1G>A single nucleotide variant Donnai-Barrow syndrome [RCV000677416] Chr2:169257123 [GRCh38]
Chr2:170113633 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.6898A>G (p.Ile2300Val) single nucleotide variant not provided [RCV000658886] Chr2:169206822 [GRCh38]
Chr2:170063332 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) single nucleotide variant Donnai-Barrow syndrome [RCV000765533]|Intellectual disability [RCV001252552]|not provided [RCV000657956] Chr2:169206862 [GRCh38]
Chr2:170063372 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.12590G>C (p.Gly4197Ala) single nucleotide variant Donnai-Barrow syndrome [RCV000680036] Chr2:169150898 [GRCh38]
Chr2:170007408 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9496A>G (p.Lys3166Glu) single nucleotide variant Intellectual disability [RCV001252312] Chr2:169185852 [GRCh38]
Chr2:170042362 [GRCh37]
Chr2:2q31.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004525.3(LRP2):c.6104C>T (p.Pro2035Leu) single nucleotide variant not provided [RCV000722730] Chr2:169212144 [GRCh38]
Chr2:170068654 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13800+2T>C single nucleotide variant not provided [RCV000722794] Chr2:169129011 [GRCh38]
Chr2:169985521 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5716G>T (p.Asp1906Tyr) single nucleotide variant not provided [RCV000723109] Chr2:169216363 [GRCh38]
Chr2:170072873 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) single nucleotide variant not provided [RCV000937856] Chr2:169226449 [GRCh38]
Chr2:170082959 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) single nucleotide variant Donnai-Barrow syndrome [RCV001136016]|not provided [RCV000893583] Chr2:169188151 [GRCh38]
Chr2:170044661 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.8073C>T (p.His2691=) single nucleotide variant Donnai-Barrow syndrome [RCV001132745]|not provided [RCV000938072] Chr2:169202892 [GRCh38]
Chr2:170059402 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.3699T>C (p.Asp1233=) single nucleotide variant not provided [RCV000977779] Chr2:169241334 [GRCh38]
Chr2:170097844 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.10803C>T (p.Cys3601=) single nucleotide variant not provided [RCV000917955] Chr2:169174130 [GRCh38]
Chr2:170030640 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.8613C>A (p.Cys2871Ter) single nucleotide variant not provided [RCV000760608] Chr2:169196996 [GRCh38]
Chr2:170053506 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.2409T>G (p.Ser803=) single nucleotide variant Donnai-Barrow syndrome [RCV001132325] Chr2:169259129 [GRCh38]
Chr2:170115639 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.770-11T>C single nucleotide variant Donnai-Barrow syndrome [RCV001132424] Chr2:169291008 [GRCh38]
Chr2:170147518 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9265G>A (p.Glu3089Lys) single nucleotide variant Donnai-Barrow syndrome [RCV001132645] Chr2:169188033 [GRCh38]
Chr2:170044543 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12923C>T (p.Thr4308Met) single nucleotide variant Donnai-Barrow syndrome [RCV001135711] Chr2:169145812 [GRCh38]
Chr2:170002322 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8015G>A (p.Gly2672Asp) single nucleotide variant Donnai-Barrow syndrome [RCV001132746] Chr2:169202950 [GRCh38]
Chr2:170059460 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*530C>T single nucleotide variant Donnai-Barrow syndrome [RCV001135593] Chr2:169128133 [GRCh38]
Chr2:169984643 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.8588C>T (p.Thr2863Met) single nucleotide variant Donnai-Barrow syndrome [RCV001131733] Chr2:169197021 [GRCh38]
Chr2:170053531 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2634T>C (p.Asp878=) single nucleotide variant Donnai-Barrow syndrome [RCV001134612] Chr2:169257129 [GRCh38]
Chr2:170113639 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5983A>C (p.Ile1995Leu) single nucleotide variant Donnai-Barrow syndrome [RCV001131978] Chr2:169213714 [GRCh38]
Chr2:170070224 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12296-7T>A single nucleotide variant Donnai-Barrow syndrome [RCV001134343]|not provided [RCV000905963] Chr2:169152971 [GRCh38]
Chr2:170009481 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.10362C>T (p.Ile3454=) single nucleotide variant not provided [RCV000943326] Chr2:169177834 [GRCh38]
Chr2:170034344 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13404C>G (p.Val4468=) single nucleotide variant not provided [RCV000879791] Chr2:169138691 [GRCh38]
Chr2:169995201 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala) single nucleotide variant Donnai-Barrow syndrome [RCV001131855]|not provided [RCV000882366] Chr2:169206870 [GRCh38]
Chr2:170063380 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.3501C>T (p.Val1167=) single nucleotide variant not provided [RCV000927960] Chr2:169243452 [GRCh38]
Chr2:170099962 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.11700T>C (p.His3900=) single nucleotide variant not provided [RCV000950382] Chr2:169165990 [GRCh38]
Chr2:170022500 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.12315G>A (p.Val4105=) single nucleotide variant not provided [RCV000906731] Chr2:169152945 [GRCh38]
Chr2:170009455 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9558A>G (p.Pro3186=) single nucleotide variant not provided [RCV000881065] Chr2:169185790 [GRCh38]
Chr2:170042300 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=) single nucleotide variant Donnai-Barrow syndrome [RCV001136017]|not provided [RCV000900425] Chr2:169188232 [GRCh38]
Chr2:170044742 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.6741C>T (p.Tyr2247=) single nucleotide variant not provided [RCV000927439] Chr2:169206979 [GRCh38]
Chr2:170063489 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.93G>A (p.Ala31=) single nucleotide variant not provided [RCV000943104] Chr2:169320871 [GRCh38]
Chr2:170177381 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.12420C>T (p.Tyr4140=) single nucleotide variant not provided [RCV000882565] Chr2:169152840 [GRCh38]
Chr2:170009350 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3431-6_3431-5del deletion not provided [RCV000967970] Chr2:169243527..169243528 [GRCh38]
Chr2:170100037..170100038 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln) single nucleotide variant not provided [RCV000926192] Chr2:169233581 [GRCh38]
Chr2:170090091 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3431-10A>T single nucleotide variant not provided [RCV000926198] Chr2:169243532 [GRCh38]
Chr2:170100042 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.828G>A (p.Ser276=) single nucleotide variant not provided [RCV000892450] Chr2:169290939 [GRCh38]
Chr2:170147449 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.8352G>C (p.Thr2784=) single nucleotide variant not provided [RCV000923391] Chr2:169201728 [GRCh38]
Chr2:170058238 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.7743G>T (p.Thr2581=) single nucleotide variant not provided [RCV000880209] Chr2:169204244 [GRCh38]
Chr2:170060754 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.7296A>G (p.Arg2432=) single nucleotide variant not provided [RCV000880210] Chr2:169206424 [GRCh38]
Chr2:170062934 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.8070G>A (p.Lys2690=) single nucleotide variant not provided [RCV000925166] Chr2:169202895 [GRCh38]
Chr2:170059405 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=) single nucleotide variant Donnai-Barrow syndrome [RCV001129374]|not provided [RCV000973118] Chr2:169235929 [GRCh38]
Chr2:170092439 [GRCh37]
Chr2:2q31.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004525.3(LRP2):c.7800C>T (p.Leu2600=) single nucleotide variant not provided [RCV000904276] Chr2:169204187 [GRCh38]
Chr2:170060697 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.876C>T (p.Cys292=) single nucleotide variant not provided [RCV000983356] Chr2:169290891 [GRCh38]
Chr2:170147401 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3607G>A (p.Val1203Ile) single nucleotide variant not provided [RCV000881982] Chr2:169243016 [GRCh38]
Chr2:170099526 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=) single nucleotide variant not provided [RCV000893130] Chr2:169152900 [GRCh38]
Chr2:170009410 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9738A>G (p.Thr3246=) single nucleotide variant not provided [RCV000921922] Chr2:169185610 [GRCh38]
Chr2:170042120 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn) single nucleotide variant Donnai-Barrow syndrome [RCV001131482]|Intellectual disability [RCV001291092]|not provided [RCV000923511] Chr2:169170596 [GRCh38]
Chr2:170027106 [GRCh37]
Chr2:2q31.1
likely pathogenic|likely benign|uncertain significance
NM_004525.3(LRP2):c.13353C>T (p.Thr4451=) single nucleotide variant not provided [RCV000980948] Chr2:169139286 [GRCh38]
Chr2:169995796 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.6040+9T>C single nucleotide variant not provided [RCV000880211] Chr2:169213648 [GRCh38]
Chr2:170070158 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13902C>G (p.Thr4634=) single nucleotide variant not provided [RCV000966828] Chr2:169128729 [GRCh38]
Chr2:169985239 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.428-14_428-8del deletion not provided [RCV000970605] Chr2:169294718..169294724 [GRCh38]
Chr2:170151228..170151234 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.1342-9T>C single nucleotide variant not provided [RCV000980983] Chr2:169279604 [GRCh38]
Chr2:170136114 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.2456G>A (p.Arg819His) single nucleotide variant not provided [RCV000883093] Chr2:169259082 [GRCh38]
Chr2:170115592 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3100A>G (p.Lys1034Glu) single nucleotide variant Donnai-Barrow syndrome [RCV001132207]|not provided [RCV000879635] Chr2:169246795 [GRCh38]
Chr2:170103305 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.12228G>A (p.Glu4076=) single nucleotide variant not provided [RCV000898106] Chr2:169154527 [GRCh38]
Chr2:170011037 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13044A>T (p.Gly4348=) single nucleotide variant not provided [RCV000972684] Chr2:169142738 [GRCh38]
Chr2:169999248 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.7918A>G (p.Ile2640Val) single nucleotide variant not provided [RCV000972686] Chr2:169204069 [GRCh38]
Chr2:170060579 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.8847G>A (p.Ser2949=) single nucleotide variant not provided [RCV000923807] Chr2:169192017 [GRCh38]
Chr2:170048527 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9891T>C (p.Ser3297=) single nucleotide variant not provided [RCV000924658] Chr2:169182274 [GRCh38]
Chr2:170038784 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13313G>T (p.Gly4438Val) single nucleotide variant not provided [RCV001070056] Chr2:169139326 [GRCh38]
Chr2:169995836 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1397T>C (p.Val466Ala) single nucleotide variant not provided [RCV001035279] Chr2:169279540 [GRCh38]
Chr2:170136050 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.7406A>G (p.Asp2469Gly) single nucleotide variant not provided [RCV000896950] Chr2:169206173 [GRCh38]
Chr2:170062683 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.2636G>C (p.Trp879Ser) single nucleotide variant Donnai-Barrow syndrome [RCV001134611]|not provided [RCV000922432] Chr2:169257127 [GRCh38]
Chr2:170113637 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.1278C>T (p.Ala426=) single nucleotide variant not provided [RCV000981552] Chr2:169280413 [GRCh38]
Chr2:170136923 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.630C>T (p.Asp210=) single nucleotide variant Donnai-Barrow syndrome [RCV001133341]|not provided [RCV000900180] Chr2:169294170 [GRCh38]
Chr2:170150680 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.7371T>A (p.Thr2457=) single nucleotide variant not provided [RCV000923977] Chr2:169206349 [GRCh38]
Chr2:170062859 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=) single nucleotide variant Donnai-Barrow syndrome [RCV001135710]|not provided [RCV000904400] Chr2:169142780 [GRCh38]
Chr2:169999290 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.5826+8C>T single nucleotide variant not provided [RCV000940119] Chr2:169216245 [GRCh38]
Chr2:170072755 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.5099-4G>A single nucleotide variant not provided [RCV000942970] Chr2:169231846 [GRCh38]
Chr2:170088356 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13218C>T (p.Thr4406=) single nucleotide variant not provided [RCV000977349] Chr2:169139592 [GRCh38]
Chr2:169996102 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.11380+7G>C single nucleotide variant not provided [RCV000916884] Chr2:169170544 [GRCh38]
Chr2:170027054 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.1008T>C (p.Tyr336=) single nucleotide variant not provided [RCV000939137] Chr2:169289060 [GRCh38]
Chr2:170145570 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.1425C>T (p.Asp475=) single nucleotide variant Donnai-Barrow syndrome [RCV001129716]|not provided [RCV000941721] Chr2:169279512 [GRCh38]
Chr2:170136022 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.11787A>G (p.Thr3929=) single nucleotide variant not provided [RCV000897820] Chr2:169162572 [GRCh38]
Chr2:170019082 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9033-9A>G single nucleotide variant not provided [RCV000893584] Chr2:169188274 [GRCh38]
Chr2:170044784 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.11568G>T (p.Pro3856=) single nucleotide variant not provided [RCV000916104] Chr2:169168606 [GRCh38]
Chr2:170025116 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=) single nucleotide variant Donnai-Barrow syndrome [RCV001128828]|not provided [RCV000979671] Chr2:169168606 [GRCh38]
Chr2:170025116 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.3786G>A (p.Glu1262=) single nucleotide variant not provided [RCV000938164] Chr2:169241247 [GRCh38]
Chr2:170097757 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.2886G>C (p.Ser962=) single nucleotide variant not provided [RCV000880212] Chr2:169247400 [GRCh38]
Chr2:170103910 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.2520A>G (p.Leu840=) single nucleotide variant Donnai-Barrow syndrome [RCV001129583]|not provided [RCV000918713] Chr2:169257243 [GRCh38]
Chr2:170113753 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.5466T>C (p.Pro1822=) single nucleotide variant not provided [RCV000921336] Chr2:169225382 [GRCh38]
Chr2:170081892 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3768C>T (p.Cys1256=) single nucleotide variant not provided [RCV000942919] Chr2:169241265 [GRCh38]
Chr2:170097775 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.1346T>A (p.Phe449Tyr) single nucleotide variant not provided [RCV000909238] Chr2:169279591 [GRCh38]
Chr2:170136101 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.1873C>T (p.Leu625=) single nucleotide variant not provided [RCV000961996] Chr2:169275138 [GRCh38]
Chr2:170131648 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=) single nucleotide variant not provided [RCV000972683] Chr2:169137467 [GRCh38]
Chr2:169993977 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.8622G>A (p.Gly2874=) single nucleotide variant not provided [RCV000939693] Chr2:169196987 [GRCh38]
Chr2:170053497 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.891T>C (p.Asp297=) single nucleotide variant not provided [RCV000925638] Chr2:169290876 [GRCh38]
Chr2:170147386 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.1651T>C (p.Leu551=) single nucleotide variant not provided [RCV000941070] Chr2:169277866 [GRCh38]
Chr2:170134376 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.1976-5T>A single nucleotide variant not provided [RCV000916210] Chr2:169273072 [GRCh38]
Chr2:170129582 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.1502G>A (p.Arg501Gln) single nucleotide variant not provided [RCV000916211] Chr2:169279435 [GRCh38]
Chr2:170135945 [GRCh37]
Chr2:2q31.1
likely benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
NM_004525.3(LRP2):c.7894A>C (p.Asn2632His) single nucleotide variant Donnai-Barrow syndrome [RCV001136148] Chr2:169204093 [GRCh38]
Chr2:170060603 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6524G>T (p.Arg2175Leu) single nucleotide variant Donnai-Barrow syndrome [RCV001136245] Chr2:169207196 [GRCh38]
Chr2:170063706 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4733G>T (p.Arg1578Leu) single nucleotide variant Donnai-Barrow syndrome [RCV001132097] Chr2:169236027 [GRCh38]
Chr2:170092537 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*997T>C single nucleotide variant Donnai-Barrow syndrome [RCV001134088] Chr2:169127666 [GRCh38]
Chr2:169984176 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*632T>A single nucleotide variant Donnai-Barrow syndrome [RCV001134090] Chr2:169128031 [GRCh38]
Chr2:169984541 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3668-12T>C single nucleotide variant Donnai-Barrow syndrome [RCV001136468] Chr2:169241377 [GRCh38]
Chr2:170097887 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12296-14G>A single nucleotide variant Donnai-Barrow syndrome [RCV001134344] Chr2:169152978 [GRCh38]
Chr2:170009488 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.438A>G (p.Thr146=) single nucleotide variant Donnai-Barrow syndrome [RCV001133342] Chr2:169294700 [GRCh38]
Chr2:170151210 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1960C>G (p.Leu654Val) single nucleotide variant Donnai-Barrow syndrome [RCV001134713] Chr2:169275051 [GRCh38]
Chr2:170131561 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1921G>C (p.Ala641Pro) single nucleotide variant Donnai-Barrow syndrome [RCV001134715] Chr2:169275090 [GRCh38]
Chr2:170131600 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser) single nucleotide variant Donnai-Barrow syndrome [RCV000785113] Chr2:169226529 [GRCh38]
Chr2:170083039 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=) single nucleotide variant Donnai-Barrow syndrome [RCV001134211] Chr2:169139280 [GRCh38]
Chr2:169995790 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.11063C>T (p.Thr3688Ile) single nucleotide variant Donnai-Barrow syndrome [RCV001134467] Chr2:169173176 [GRCh38]
Chr2:170029686 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.795A>G (p.Lys265=) single nucleotide variant Donnai-Barrow syndrome [RCV001132423] Chr2:169290972 [GRCh38]
Chr2:170147482 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6785G>C (p.Arg2262Pro) single nucleotide variant Donnai-Barrow syndrome [RCV001132841] Chr2:169206935 [GRCh38]
Chr2:170063445 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5206G>T (p.Asp1736Tyr) single nucleotide variant Donnai-Barrow syndrome [RCV001132933] Chr2:169231735 [GRCh38]
Chr2:170088245 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8579-10C>T single nucleotide variant Donnai-Barrow syndrome [RCV001131734] Chr2:169197040 [GRCh38]
Chr2:170053550 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3002C>G (p.Pro1001Arg) single nucleotide variant Donnai-Barrow syndrome [RCV001133136] Chr2:169246893 [GRCh38]
Chr2:170103403 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2062C>T (p.Arg688Cys) single nucleotide variant Donnai-Barrow syndrome [RCV001133255] Chr2:169272981 [GRCh38]
Chr2:170129491 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4539T>G (p.Thr1513=) single nucleotide variant not provided [RCV000917294] Chr2:169237255 [GRCh38]
Chr2:170093765 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9617G>A (p.Arg3206His) single nucleotide variant Donnai-Barrow syndrome [RCV001131599]|not provided [RCV000898653] Chr2:169185731 [GRCh38]
Chr2:170042241 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9282C>T (p.Cys3094=) single nucleotide variant not provided [RCV000897638] Chr2:169188016 [GRCh38]
Chr2:170044526 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.428-30_428-20dup duplication not provided [RCV000961417] Chr2:169294717..169294718 [GRCh38]
Chr2:170151227..170151228 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.3434C>T (p.Ser1145Leu) single nucleotide variant Donnai-Barrow syndrome [RCV001129481]|not provided [RCV000896876] Chr2:169243519 [GRCh38]
Chr2:170100029 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.2540G>A (p.Arg847His) single nucleotide variant Donnai-Barrow syndrome [RCV000845028] Chr2:169257223 [GRCh38]
Chr2:170113733 [GRCh37]
Chr2:2q31.1
uncertain significance|not provided
NM_004525.3(LRP2):c.5657A>G (p.Tyr1886Cys) single nucleotide variant Donnai-Barrow syndrome [RCV000845029] Chr2:169216422 [GRCh38]
Chr2:170072932 [GRCh37]
Chr2:2q31.1
not provided
NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe) single nucleotide variant Donnai-Barrow syndrome [RCV000845030] Chr2:169173125 [GRCh38]
Chr2:170029635 [GRCh37]
Chr2:2q31.1
not provided
NM_004525.3(LRP2):c.12243G>A (p.Glu4081=) single nucleotide variant not provided [RCV000896066] Chr2:169154512 [GRCh38]
Chr2:170011022 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9981C>G (p.Ala3327=) single nucleotide variant not provided [RCV000918653] Chr2:169182184 [GRCh38]
Chr2:170038694 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.*991C>T single nucleotide variant Donnai-Barrow syndrome [RCV001134089] Chr2:169127672 [GRCh38]
Chr2:169984182 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13302C>T (p.Ile4434=) single nucleotide variant Donnai-Barrow syndrome [RCV001134213] Chr2:169139337 [GRCh38]
Chr2:169995847 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3494C>T (p.Ser1165Leu) single nucleotide variant not provided [RCV000997305] Chr2:169243459 [GRCh38]
Chr2:170099969 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13090A>G (p.Thr4364Ala) single nucleotide variant Donnai-Barrow syndrome [RCV001135709] Chr2:169142692 [GRCh38]
Chr2:169999202 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2456G>T (p.Arg819Leu) single nucleotide variant Donnai-Barrow syndrome [RCV001132323] Chr2:169259082 [GRCh38]
Chr2:170115592 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.9426G>T (p.Lys3142Asn) single nucleotide variant Donnai-Barrow syndrome [RCV001132643] Chr2:169185922 [GRCh38]
Chr2:170042432 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5395-12C>G single nucleotide variant Donnai-Barrow syndrome [RCV001132929] Chr2:169225465 [GRCh38]
Chr2:170081975 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.3734C>A (p.Pro1245Gln) single nucleotide variant Donnai-Barrow syndrome [RCV001133032] Chr2:169241299 [GRCh38]
Chr2:170097809 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11203C>T (p.Leu3735Phe) single nucleotide variant Donnai-Barrow syndrome [RCV001131484] Chr2:169172075 [GRCh38]
Chr2:170028585 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.-5C>T single nucleotide variant Donnai-Barrow syndrome [RCV001129831] Chr2:169362404 [GRCh38]
Chr2:170218914 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.4743A>T (p.Arg1581=) single nucleotide variant Donnai-Barrow syndrome [RCV001129377] Chr2:169236017 [GRCh38]
Chr2:170092527 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1436A>C (p.Asn479Thr) single nucleotide variant Donnai-Barrow syndrome [RCV001129715] Chr2:169279501 [GRCh38]
Chr2:170136011 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_004525.3(LRP2):c.8687del (p.Pro2896fs) deletion not provided [RCV001009315] Chr2:169196922 [GRCh38]
Chr2:170053432 [GRCh37]
Chr2:2q31.1
likely pathogenic
NM_004525.3(LRP2):c.*162G>A single nucleotide variant Donnai-Barrow syndrome [RCV001130518] Chr2:169128501 [GRCh38]
Chr2:169985011 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*122A>G single nucleotide variant Donnai-Barrow syndrome [RCV001130519] Chr2:169128541 [GRCh38]
Chr2:169985051 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6978dup (p.Thr2327fs) duplication not provided [RCV001008614] Chr2:169206741..169206742 [GRCh38]
Chr2:170063251..170063252 [GRCh37]
Chr2:2q31.1
pathogenic
NM_004525.3(LRP2):c.7284T>G (p.Ser2428Arg) single nucleotide variant Donnai-Barrow syndrome [RCV001129169] Chr2:169206436 [GRCh38]
Chr2:170062946 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8848G>T (p.Asp2950Tyr) single nucleotide variant not provided [RCV000997303] Chr2:169192016 [GRCh38]
Chr2:170048526 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2063G>A (p.Arg688His) single nucleotide variant not provided [RCV000997306] Chr2:169272980 [GRCh38]
Chr2:170129490 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.*1049G>A single nucleotide variant Donnai-Barrow syndrome [RCV001134087] Chr2:169127614 [GRCh38]
Chr2:169984124 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.13303G>A (p.Val4435Ile) single nucleotide variant Donnai-Barrow syndrome [RCV001134212] Chr2:169139336 [GRCh38]
Chr2:169995846 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11685C>T (p.Arg3895=) single nucleotide variant Donnai-Barrow syndrome [RCV001128827] Chr2:169166005 [GRCh38]
Chr2:170022515 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11498-15T>C single nucleotide variant Donnai-Barrow syndrome [RCV001128829] Chr2:169168691 [GRCh38]
Chr2:170025201 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10234G>A (p.Ala3412Thr) single nucleotide variant Donnai-Barrow syndrome [RCV001128936] Chr2:169177962 [GRCh38]
Chr2:170034472 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10211A>T (p.Asp3404Val) single nucleotide variant Donnai-Barrow syndrome [RCV001128937] Chr2:169177985 [GRCh38]
Chr2:170034495 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10170-3C>T single nucleotide variant Donnai-Barrow syndrome [RCV001128938] Chr2:169178029 [GRCh38]
Chr2:170034539 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8452+14A>G single nucleotide variant Donnai-Barrow syndrome [RCV001131736] Chr2:169201614 [GRCh38]
Chr2:170058124 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.6814C>T (p.Arg2272Cys) single nucleotide variant Donnai-Barrow syndrome [RCV001131856] Chr2:169206906 [GRCh38]
Chr2:170063416 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.4358C>T (p.Ser1453Phe) single nucleotide variant Donnai-Barrow syndrome [RCV001132099] Chr2:169238239 [GRCh38]
Chr2:170094749 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.12222C>T (p.Phe4074=) single nucleotide variant not provided [RCV000898626] Chr2:169154533 [GRCh38]
Chr2:170011043 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.311-4G>A single nucleotide variant not provided [RCV000918180] Chr2:169307401 [GRCh38]
Chr2:170163911 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn) single nucleotide variant Donnai-Barrow syndrome [RCV001132644]|not provided [RCV000907179] Chr2:169187987 [GRCh38]
Chr2:170044497 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) single nucleotide variant Donnai-Barrow syndrome [RCV001131600]|not provided [RCV000952826] Chr2:169185735 [GRCh38]
Chr2:170042245 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.2908+8A>G single nucleotide variant not provided [RCV000930944] Chr2:169247370 [GRCh38]
Chr2:170103880 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.2024T>C (p.Val675Ala) single nucleotide variant Donnai-Barrow syndrome [RCV001133256]|not provided [RCV000888052] Chr2:169273019 [GRCh38]
Chr2:170129529 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.3266G>A (p.Arg1089His) single nucleotide variant Intellectual disability [RCV001252310]|not provided [RCV000909123] Chr2:169244857 [GRCh38]
Chr2:170101367 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) single nucleotide variant Donnai-Barrow syndrome [RCV001132930]|not provided [RCV000896282] Chr2:169226426 [GRCh38]
Chr2:170082936 [GRCh37]
Chr2:2q31.1
benign|conflicting interpretations of pathogenicity
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe) single nucleotide variant Donnai-Barrow syndrome [RCV001129277]|not provided [RCV000918711] Chr2:169212072 [GRCh38]
Chr2:170068582 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.428-8_428-7insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC insertion not provided [RCV000922905] Chr2:169294717..169294718 [GRCh38]
Chr2:170151227..170151228 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.428-30_428-27dup duplication not provided [RCV000953681] Chr2:169294717..169294718 [GRCh38]
Chr2:170151227..170151228 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) single nucleotide variant Donnai-Barrow syndrome [RCV001133138]|not provided [RCV000885726] Chr2:169246962 [GRCh38]
Chr2:170103472 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.13935C>T (p.Thr4645=) single nucleotide variant not provided [RCV000901098] Chr2:169128696 [GRCh38]
Chr2:169985206 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.10308T>C (p.Tyr3436=) single nucleotide variant not provided [RCV000903304] Chr2:169177888 [GRCh38]
Chr2:170034398 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) single nucleotide variant Donnai-Barrow syndrome [RCV001134814]|not provided [RCV000886781] Chr2:169307317 [GRCh38]
Chr2:170163827 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.1869C>T (p.Ala623=) single nucleotide variant not provided [RCV000903510] Chr2:169275142 [GRCh38]
Chr2:170131652 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.2105G>A (p.Arg702His) single nucleotide variant not provided [RCV000939072] Chr2:169272938 [GRCh38]
Chr2:170129448 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=) single nucleotide variant not provided [RCV000917106] Chr2:169188229 [GRCh38]
Chr2:170044739 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.2277T>C (p.Asp759=) single nucleotide variant not provided [RCV000976031] Chr2:169270947 [GRCh38]
Chr2:170127457 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.10029C>T (p.Arg3343=) single nucleotide variant not provided [RCV000901522] Chr2:169181588 [GRCh38]
Chr2:170038098 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=) single nucleotide variant Donnai-Barrow syndrome [RCV001131483]|not provided [RCV000903930] Chr2:169172034 [GRCh38]
Chr2:170028544 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) single nucleotide variant Donnai-Barrow syndrome [RCV001131594]|not provided [RCV000950642] Chr2:169182251 [GRCh38]
Chr2:170038761 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.7683A>G (p.Glu2561=) single nucleotide variant not provided [RCV000937431] Chr2:169205511 [GRCh38]
Chr2:170062021 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3081C>T (p.Gly1027=) single nucleotide variant not provided [RCV000908132] Chr2:169246814 [GRCh38]
Chr2:170103324 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=) single nucleotide variant not provided [RCV000917542] Chr2:169206766 [GRCh38]
Chr2:170063276 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) single nucleotide variant Donnai-Barrow syndrome [RCV001132842]|not provided [RCV000882605] Chr2:169207167 [GRCh38]
Chr2:170063677 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.3430+10G>A single nucleotide variant not provided [RCV000971176] Chr2:169244683 [GRCh38]
Chr2:170101193 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) single nucleotide variant Donnai-Barrow syndrome [RCV001136147]|not provided [RCV000886390] Chr2:169204070 [GRCh38]
Chr2:170060580 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.4924A>G (p.Ile1642Val) single nucleotide variant Donnai-Barrow syndrome [RCV001136368]|not provided [RCV000886391] Chr2:169233585 [GRCh38]
Chr2:170090095 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=) single nucleotide variant Donnai-Barrow syndrome [RCV001129375]|not provided [RCV000888565] Chr2:169235957 [GRCh38]
Chr2:170092467 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_004525.3(LRP2):c.2805C>G (p.Ala935=) single nucleotide variant not provided [RCV000930184] Chr2:169247481 [GRCh38]
Chr2:170103991 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.9888C>T (p.Val3296=) single nucleotide variant Donnai-Barrow syndrome [RCV001131597] Chr2:169182277 [GRCh38]
Chr2:170038787 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val) single nucleotide variant Donnai-Barrow syndrome [RCV001132204]|not provided [RCV001309361] Chr2:169244759 [GRCh38]
Chr2:170101269 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3355C>A (p.His1119Asn) single nucleotide variant Donnai-Barrow syndrome [RCV001132205] Chr2:169244768 [GRCh38]
Chr2:170101278 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.3249C>A (p.His1083Gln) single nucleotide variant Donnai-Barrow syndrome [RCV001132206] Chr2:169244874 [GRCh38]
Chr2:170101384 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.8096G>C (p.Arg2699Pro) single nucleotide variant Donnai-Barrow syndrome [RCV001132744] Chr2:169202869 [GRCh38]
Chr2:170059379 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.11072G>A (p.Arg3691His) single nucleotide variant Donnai-Barrow syndrome [RCV001134466]|Intellectual disability [RCV001252315] Chr2:169173167 [GRCh38]
Chr2:170029677 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.2784T>C (p.Phe928=) single nucleotide variant Donnai-Barrow syndrome [RCV001134609] Chr2:169247502 [GRCh38]
Chr2:170104012 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.2640T>G (p.Ala880=) single nucleotide variant Donnai-Barrow syndrome [RCV001134610] Chr2:169256236 [GRCh38]
Chr2:170112746 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.1923T>G (p.Ala641=) single nucleotide variant Donnai-Barrow syndrome [RCV001134714] Chr2:169275088 [GRCh38]
Chr2:170131598 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.10792G>A (p.Glu3598Lys) single nucleotide variant Donnai-Barrow syndrome [RCV001135934] Chr2:169174141 [GRCh38]
Chr2:170030651 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=) single nucleotide variant Donnai-Barrow syndrome [RCV001132931]|not provided [RCV000911950] Chr2:169226446 [GRCh38]
Chr2:170082956 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_004525.3(LRP2):c.11454T>C (p.Asp3818=) single nucleotide variant not provided [RCV000933777] Chr2:169169745 [GRCh38]
Chr2:170026255 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.9413G>A (p.Arg3138His) single nucleotide variant not provided [RCV000955981] Chr2:169185935 [GRCh38]
Chr2:170042445 [GRCh37]
Chr2:2q31.1
benign
NM_004525.3(LRP2):c.8178G>A (p.Gly2726=) single nucleotide variant not provided [RCV000955982] Chr2:169202787 [GRCh38]
Chr2:170059297 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.3144C>T (p.Val1048=) single nucleotide variant not provided [RCV000955985] Chr2:169246751 [GRCh38]
Chr2:170103261 [GRCh37]
Chr2:2q31.1
likely benign
NM_004525.3(LRP2):c.79+7G>A single nucleotide variant not provided [