LRP4 (LDL receptor related protein 4) - Rat Genome Database

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Gene: LRP4 (LDL receptor related protein 4) Homo sapiens
Analyze
Symbol: LRP4
Name: LDL receptor related protein 4
RGD ID: 731744
HGNC Page HGNC
Description: Predicted to have receptor tyrosine kinase binding activity and scaffold protein binding activity. Involved in several processes, including amyloid-beta clearance by cellular catabolic process; negative regulation of canonical Wnt signaling pathway; and negative regulation of ossification. Localizes to cell surface. Implicated in Cenani-Lenz syndactyly syndrome; congenital myasthenic syndrome 17; and sclerosteosis 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CLSS; CMS17; KIAA0816; low density lipoprotein receptor-related protein 4; low-density lipoprotein receptor-related protein 4; LRP-4; LRP10; MEGF7; multiple epidermal growth factor-like domains 7; SOST2
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 Ensembl1146,856,717 - 46,918,642 (-)EnsemblGRCh38hg38GRCh38
GRCh381146,854,715 - 46,918,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371146,878,268 - 46,940,101 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,834,994 - 46,896,652 (-)NCBINCBI36hg18NCBI36
Build 341146,834,994 - 46,874,397NCBI
Celera1147,024,050 - 47,085,802 (-)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1146,584,196 - 46,645,441 (-)NCBIHuRef
CHM1_11146,876,690 - 46,938,585 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
cyclosporin A  (EXP,ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
ethanol  (EXP,ISO)
folic acid  (ISO)
genistein  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
maneb  (ISO)
metacetamol  (ISO)
methylmercury chloride  (ISO)
monosodium L-glutamate  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
pyridaben  (ISO)
rac-lactic acid  (EXP)
SB 431542  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
2-3 finger syndactyly  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of the metacarpal bones  (IAGP)
Abnormality of the nose  (IAGP)
Abnormality of the ribs  (IAGP)
Absent fingernail  (IAGP)
Absent toenail  (IAGP)
Ankle weakness  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cataract  (IAGP)
Congenital onset  (IAGP)
Convex nasal ridge  (IAGP)
Craniofacial hyperostosis  (IAGP)
Crossed fused renal ectopia  (IAGP)
Curved distal phalanges of the hand  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cyanosis  (IAGP)
Decreased miniature endplate potentials  (IAGP)
Decreased size of nerve terminals  (IAGP)
Delayed gross motor development  (IAGP)
Diaphyseal thickening  (IAGP)
Difficulty walking  (IAGP)
Diplopia  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drowsiness  (IAGP)
Easy fatigability  (IAGP)
Ectropion  (IAGP)
Elbow dislocation  (IAGP)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Exertional dyspnea  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of neck muscles  (IAGP)
Fatigable weakness of respiratory muscles  (IAGP)
Feeding difficulties  (IAGP)
Finger syndactyly  (IAGP)
Fingernail dysplasia  (IAGP)
Foot oligodactyly  (IAGP)
Frontal bossing  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hip flexor weakness  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hyporeflexia  (IAGP)
Hypothyroidism  (IAGP)
Increased bone mineral density  (IAGP)
Intellectual disability  (IAGP)
Laryngomalacia  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Muscle weakness  (IAGP)
Nail dysplasia  (IAGP)
Neck flexor weakness  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Optic atrophy  (IAGP)
Orthopnea  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Radioulnar synostosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced vital capacity  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Respiratory failure  (IAGP)
Restrictive ventilatory defect  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short finger  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short thumb  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Syndactyly  (IAGP)
Synostosis of carpal bones  (IAGP)
Tall stature  (IAGP)
Tetraparesis  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Toe syndactyly  (IAGP)
Triceps weakness  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Weakness of long finger extensor muscles  (IAGP)
Weakness of the intrinsic hand muscles  (IAGP)
References

Additional References at PubMed
PMID:12421765   PMID:12477932   PMID:15489334   PMID:16344560   PMID:16517118   PMID:16554811   PMID:17620599   PMID:18289866   PMID:19079262   PMID:20005200   PMID:20093106   PMID:20205790  
PMID:20301347   PMID:20381006   PMID:20554715   PMID:20686565   PMID:21471202   PMID:21502573   PMID:21645651   PMID:21969364   PMID:22794264   PMID:23321396   PMID:23664847   PMID:24097068  
PMID:24234652   PMID:24244707   PMID:24297891   PMID:24530233   PMID:24924585   PMID:25319686   PMID:26186194   PMID:26439863   PMID:26496610   PMID:26751728   PMID:28513615   PMID:28514442  
PMID:28559208   PMID:29507755   PMID:29524275   PMID:29885843   PMID:29961565   PMID:30327840   PMID:30569497   PMID:30833792   PMID:31495888   PMID:31536960   PMID:31753913   PMID:32457076  


Genomics

Comparative Map Data
LRP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1146,856,717 - 46,918,642 (-)EnsemblGRCh38hg38GRCh38
GRCh381146,854,715 - 46,918,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371146,878,268 - 46,940,101 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,834,994 - 46,896,652 (-)NCBINCBI36hg18NCBI36
Build 341146,834,994 - 46,874,397NCBI
Celera1147,024,050 - 47,085,802 (-)NCBI
Cytogenetic Map11p11.2NCBI
HuRef1146,584,196 - 46,645,441 (-)NCBIHuRef
CHM1_11146,876,690 - 46,938,585 (-)NCBICHM1_1
Lrp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,287,794 - 91,344,246 (+)NCBIGRCm39mm39
GRCm39 Ensembl291,287,856 - 91,344,124 (+)Ensembl
GRCm38291,457,456 - 91,513,901 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,457,511 - 91,513,779 (+)EnsemblGRCm38mm10GRCm38
MGSCv37291,297,688 - 91,354,058 (+)NCBIGRCm37mm9NCBIm37
MGSCv36291,258,540 - 91,314,618 (+)NCBImm8
Celera292,845,990 - 92,902,350 (+)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
Lrp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2377,429,600 - 77,483,593 (+)NCBI
Rnor_6.0 Ensembl380,362,858 - 80,416,679 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0380,362,643 - 80,416,684 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0387,062,818 - 87,116,798 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4375,821,638 - 75,875,100 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1375,718,009 - 75,771,472 (+)NCBI
Celera376,634,746 - 76,688,537 (+)NCBICelera
Cytogenetic Map3q24NCBI
Lrp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554221,191,338 - 1,238,227 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,191,338 - 1,238,227 (+)NCBIChiLan1.0ChiLan1.0
LRP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11147,364,195 - 47,409,143 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1147,366,321 - 47,411,105 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01146,808,090 - 46,868,649 (-)NCBIMhudiblu_PPA_v0panPan3
LRP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11842,616,683 - 42,667,297 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1842,616,426 - 42,665,794 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,344,660 - 41,396,887 (+)NCBI
ROS_Cfam_1.01843,271,285 - 43,323,513 (+)NCBI
UMICH_Zoey_3.11842,756,909 - 42,808,998 (+)NCBI
UNSW_CanFamBas_1.01842,312,112 - 42,364,153 (+)NCBI
UU_Cfam_GSD_1.01843,041,646 - 43,093,851 (+)NCBI
Lrp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,100,527 - 20,153,707 (+)NCBI
SpeTri2.0NW_0049365622,211,519 - 2,262,899 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl215,616,131 - 15,672,874 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1215,616,137 - 15,672,876 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2216,979,254 - 17,017,635 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRP4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1118,393,489 - 18,474,514 (+)NCBI
ChlSab1.1 Ensembl118,413,513 - 18,471,444 (+)Ensembl
Vero_WHO_p1.0NW_023666038115,697,194 - 115,757,957 (+)NCBI
Lrp4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247671,708,866 - 1,757,629 (+)NCBI

Position Markers
NIB347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,878,530 - 46,878,787UniSTSGRCh37
Build 361146,835,106 - 46,835,363RGDNCBI36
Celera1147,024,312 - 47,024,569RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,584,458 - 46,584,715UniSTS
GeneMap99-GB4 RH Map11168.92UniSTS
Whitehead-RH Map11158.4UniSTS
NCBI RH Map11339.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1838
Count of miRNA genes:991
Interacting mature miRNAs:1195
Transcripts:ENST00000378623, ENST00000527656, ENST00000529604, ENST00000529921, ENST00000534404
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 adipose tissue appendage entire extraembryonic component
High
Medium 218 64 131 16 118 17 1892 137 2684 60 194 261 4 3 1120
Low 2191 2060 1261 287 520 126 2418 1995 1014 321 1232 1312 167 1184 1638 4
Below cutoff 15 812 322 313 1108 315 45 59 10 37 20 31 17 30

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB084910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB231861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA799511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB061460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378623   ⟹   ENSP00000367888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,856,717 - 46,918,550 (-)Ensembl
RefSeq Acc Id: ENST00000527656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,871,525 - 46,873,754 (-)Ensembl
RefSeq Acc Id: ENST00000529604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,856,870 - 46,862,933 (-)Ensembl
RefSeq Acc Id: ENST00000529921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,883,924 - 46,889,687 (-)Ensembl
RefSeq Acc Id: ENST00000534404   ⟹   ENSP00000434763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,899,387 - 46,918,642 (-)Ensembl
RefSeq Acc Id: NM_002334   ⟹   NP_002325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,856,717 - 46,918,550 (-)NCBI
GRCh371146,878,268 - 46,940,173 (-)RGD
Build 361146,834,994 - 46,896,652 (-)NCBI Archive
Celera1147,024,050 - 47,085,802 (-)RGD
HuRef1146,584,196 - 46,645,441 (-)ENTREZGENE
CHM1_11146,876,690 - 46,938,585 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520103   ⟹   XP_011518405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,854,715 - 46,898,304 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520104   ⟹   XP_011518406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,854,715 - 46,886,631 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017734   ⟹   XP_016873223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,859,229 - 46,918,539 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002325   ⟸   NM_002334
- Peptide Label: precursor
- UniProtKB: O75096 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518405   ⟸   XM_011520103
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011518406   ⟸   XM_011520104
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016873223   ⟸   XM_017017734
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000434763   ⟸   ENST00000534404
RefSeq Acc Id: ENSP00000367888   ⟸   ENST00000378623
Protein Domains
EGF-like   EGF_CA   LDL-receptor class A

Promoters
RGD ID:6789089
Promoter ID:HG_KWN:12777
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000256991,   NM_002334,   UC009YLH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,896,314 - 46,896,814 (-)MPROMDB
RGD ID:7220209
Promoter ID:EPDNEW_H15850
Type:initiation region
Name:LRP4_1
Description:LDL receptor related protein 4
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
GRCh381146,918,532 - 46,918,592EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002334.4(LRP4):c.1310-7T>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000551074] Chr11:46894826 [GRCh38]
Chr11:46916377 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000527762] Chr11:46890364 [GRCh38]
Chr11:46911915 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1481G>A (p.Arg494His) single nucleotide variant not provided [RCV000521589] Chr11:46894648 [GRCh38]
Chr11:46916199 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) indel Cenani-Lenz syndactyly syndrome [RCV000530766] Chr11:46877220..46877221 [GRCh38]
Chr11:46898771..46898772 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000551609]|Cenani-Lenz syndactyly syndrome [RCV001107676]|not provided [RCV000591887] Chr11:46868012 [GRCh38]
Chr11:46889563 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000800068]|Sclerosteosis 2 [RCV000023363]|not provided [RCV000490108] Chr11:46875946 [GRCh38]
Chr11:46897497 [GRCh37]
Chr11:11p11.2
pathogenic|likely pathogenic|uncertain significance
NM_002334.4(LRP4):c.3508C>T (p.Arg1170Trp) single nucleotide variant Sclerosteosis 2 [RCV000023364] Chr11:46876494 [GRCh38]
Chr11:46898045 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006040] Chr11:46893085 [GRCh38]
Chr11:46914636 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006041] Chr11:46899884 [GRCh38]
Chr11:46921435 [GRCh37]
Chr11:11p11.2
pathogenic
LRP4, 4959G-C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006042] Chr11:11p12-p11.2 pathogenic
NM_002334.4(LRP4):c.547+1G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006043] Chr11:46899386 [GRCh38]
Chr11:46920937 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006044] Chr11:46899455 [GRCh38]
Chr11:46921006 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006045] Chr11:46894784 [GRCh38]
Chr11:46916335 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006046] Chr11:46894748 [GRCh38]
Chr11:46916299 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.200-9G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000006047] Chr11:46900387 [GRCh38]
Chr11:46921938 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.4511C>T (p.Ser1504Phe) single nucleotide variant not provided [RCV000722490] Chr11:46873172 [GRCh38]
Chr11:46894723 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.248G>T (p.Cys83Phe) single nucleotide variant not provided [RCV000722908] Chr11:46900330 [GRCh38]
Chr11:46921881 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3756G>A (p.Val1252=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000545423] Chr11:46875625 [GRCh38]
Chr11:46897176 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.909C>G (p.Asn303Lys) single nucleotide variant not provided [RCV000728388] Chr11:46896882 [GRCh38]
Chr11:46918433 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000529893] Chr11:46875462 [GRCh38]
Chr11:46897013 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2130G>A (p.Thr710=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000542505] Chr11:46889496 [GRCh38]
Chr11:46911047 [GRCh37]
Chr11:11p11.2
likely benign
GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1 copy number loss See cases [RCV000051014] Chr11:46840454..48643003 [GRCh38]
Chr11:46862005..48664555 [GRCh37]
Chr11:46818581..48621131 [NCBI36]
Chr11:11p11.2
pathogenic
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
NM_002334.3(LRP4):c.4518G>A (p.Arg1506=) single nucleotide variant Malignant melanoma [RCV000062222] Chr11:46873165 [GRCh38]
Chr11:46894716 [GRCh37]
Chr11:46851292 [NCBI36]
Chr11:11p11.2
not provided
NM_002334.3(LRP4):c.4517G>A (p.Arg1506Gln) single nucleotide variant Malignant melanoma [RCV000062223] Chr11:46873166 [GRCh38]
Chr11:46894717 [GRCh37]
Chr11:46851293 [NCBI36]
Chr11:11p11.2
not provided
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001083066]|Cenani-Lenz syndactyly syndrome [RCV001107848]|not provided [RCV000528569]|not specified [RCV000174518] Chr11:46893119 [GRCh38]
Chr11:46914670 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
NM_002334.4(LRP4):c.1915+6C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643993]|not specified [RCV000174731] Chr11:46890271 [GRCh38]
Chr11:46911822 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000395951]|Cenani-Lenz syndactyly syndrome [RCV000528344]|not specified [RCV000180583] Chr11:46896261 [GRCh38]
Chr11:46917812 [GRCh37]
Chr11:11p11.2
benign|likely benign
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000555565]|Cenani-Lenz syndactyly syndrome [RCV001107104]|not specified [RCV000192848] Chr11:46875564 [GRCh38]
Chr11:46897115 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) single nucleotide variant Myasthenic syndrome, congenital, 17 [RCV000170320] Chr11:46875806 [GRCh38]
Chr11:46897357 [GRCh37]
Chr11:11p11.2
pathogenic|not provided
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000691410]|Myasthenic syndrome, congenital, 17 [RCV000170321] Chr11:46875551 [GRCh38]
Chr11:46897102 [GRCh37]
Chr11:11p11.2
pathogenic|uncertain significance|not provided
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) single nucleotide variant not provided [RCV000176868] Chr11:46875049 [GRCh38]
Chr11:46896600 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643986]|not specified [RCV000177906] Chr11:46862634 [GRCh38]
Chr11:46884185 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000808408]|not provided [RCV000177936] Chr11:46859212 [GRCh38]
Chr11:46880763 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000394052]|Cenani-Lenz syndactyly syndrome [RCV001087525]|not provided [RCV000393021] Chr11:46875883 [GRCh38]
Chr11:46897434 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.1126G>A (p.Val376Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000543335] Chr11:46895941 [GRCh38]
Chr11:46917492 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.316+1G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000578727] Chr11:46900261 [GRCh38]
Chr11:46921812 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001068938]|Cenani-Lenz syndactyly syndrome [RCV001104051]|not provided [RCV000521557] Chr11:46868653 [GRCh38]
Chr11:46890204 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000343970] Chr11:46862661 [GRCh38]
Chr11:46884212 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3818G>C (p.Arg1273Pro) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000345358] Chr11:46875563 [GRCh38]
Chr11:46897114 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.813G>A (p.Thr271=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000368360]|Cenani-Lenz syndactyly syndrome [RCV000539834] Chr11:46896978 [GRCh38]
Chr11:46918529 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000394967]|Cenani-Lenz syndactyly syndrome [RCV000536860] Chr11:46864526 [GRCh38]
Chr11:46886077 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000395910]|Cenani-Lenz syndactyly syndrome [RCV000643982] Chr11:46894694 [GRCh38]
Chr11:46916245 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000283272]|Cenani-Lenz syndactyly syndrome [RCV000699085] Chr11:46859029 [GRCh38]
Chr11:46880580 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000302037]|Cenani-Lenz syndactyly syndrome [RCV000876160] Chr11:46895191 [GRCh38]
Chr11:46916742 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.*1586T>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000302929] Chr11:46857397 [GRCh38]
Chr11:46878948 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000370312]|Cenani-Lenz syndactyly syndrome [RCV001327360] Chr11:46868623 [GRCh38]
Chr11:46890174 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000284639]|not provided [RCV000876879] Chr11:46873530 [GRCh38]
Chr11:46895081 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000302711] Chr11:46879172 [GRCh38]
Chr11:46900723 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000267197]|Cenani-Lenz syndactyly syndrome [RCV000874022] Chr11:46873147 [GRCh38]
Chr11:46894698 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.129C>G (p.Thr43=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000285927]|Cenani-Lenz syndactyly syndrome [RCV000536314] Chr11:46902853 [GRCh38]
Chr11:46924404 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.*1825_*1826del deletion Cenani-Lenz syndactyly syndrome [RCV000303999] Chr11:46857157..46857158 [GRCh38]
Chr11:46878708..46878709 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000325056] Chr11:46883913 [GRCh38]
Chr11:46905464 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000288021]|Cenani-Lenz syndactyly syndrome [RCV001082274]|not provided [RCV000734104] Chr11:46875085 [GRCh38]
Chr11:46896636 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.*1017C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000306447] Chr11:46857966 [GRCh38]
Chr11:46879517 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.3699+5G>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000349390]|Cenani-Lenz syndactyly syndrome [RCV001049170] Chr11:46875799 [GRCh38]
Chr11:46897350 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.431-8C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000375020]|Cenani-Lenz syndactyly syndrome [RCV000951892] Chr11:46899511 [GRCh38]
Chr11:46921062 [GRCh37]
Chr11:11p11.2
benign|likely benign|uncertain significance
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000272387]|Cenani-Lenz syndactyly syndrome [RCV001349986] Chr11:46881877 [GRCh38]
Chr11:46903428 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000327975]|Cenani-Lenz syndactyly syndrome [RCV000794293] Chr11:46873549 [GRCh38]
Chr11:46895100 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.801C>T (p.Thr267=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000273449] Chr11:46896990 [GRCh38]
Chr11:46918541 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.968G>A (p.Arg323His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000307983]|Cenani-Lenz syndactyly syndrome [RCV000806077] Chr11:46896290 [GRCh38]
Chr11:46917841 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.922+13G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000272713] Chr11:46896856 [GRCh38]
Chr11:46918407 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) single nucleotide variant Bone Mineral Density Variation [RCV000354293]|Cenani-Lenz syndactyly syndrome [RCV000876033] Chr11:46871604 [GRCh38]
Chr11:46893155 [GRCh37]
Chr11:11p11.2
benign|uncertain significance
NM_002334.4(LRP4):c.5346C>G (p.Pro1782=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000291306] Chr11:46862645 [GRCh38]
Chr11:46884196 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.676+13G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000260468] Chr11:46898891 [GRCh38]
Chr11:46920442 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000312135] Chr11:46868646 [GRCh38]
Chr11:46890197 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.*561T>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000275228] Chr11:46858422 [GRCh38]
Chr11:46879973 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000295279]|Cenani-Lenz syndactyly syndrome [RCV000539300] Chr11:46892975 [GRCh38]
Chr11:46914526 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000313366] Chr11:46868614 [GRCh38]
Chr11:46890165 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000336162] Chr11:46893032 [GRCh38]
Chr11:46914583 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000384785]|Cenani-Lenz syndactyly syndrome [RCV000544655] Chr11:46875084 [GRCh38]
Chr11:46896635 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000275970]|Cenani-Lenz syndactyly syndrome [RCV001070370] Chr11:46886431 [GRCh38]
Chr11:46907982 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*261C>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000278662] Chr11:46858722 [GRCh38]
Chr11:46880273 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000337204] Chr11:46894649 [GRCh38]
Chr11:46916200 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000296675] Chr11:46875672 [GRCh38]
Chr11:46897223 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.282C>T (p.Asn94=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000340313]|not provided [RCV000908407] Chr11:46900296 [GRCh38]
Chr11:46921847 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000282284]|Cenani-Lenz syndactyly syndrome [RCV000550279] Chr11:46894628 [GRCh38]
Chr11:46916179 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000262910] Chr11:46871557 [GRCh38]
Chr11:46893108 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000299043]|not specified [RCV000592035] Chr11:46877220 [GRCh38]
Chr11:46898771 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000300095] Chr11:46875895 [GRCh38]
Chr11:46897446 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.*1727G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000342456] Chr11:46857256 [GRCh38]
Chr11:46878807 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.300G>A (p.Ser100=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000280603]|Cenani-Lenz syndactyly syndrome [RCV000541713] Chr11:46900278 [GRCh38]
Chr11:46921829 [GRCh37]
Chr11:11p11.2
benign|uncertain significance
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000342868]|Cenani-Lenz syndactyly syndrome [RCV000532575] Chr11:46895950 [GRCh38]
Chr11:46917501 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000549519]|Cenani-Lenz syndactyly syndrome [RCV001107206]|not specified [RCV000306777] Chr11:46890405 [GRCh38]
Chr11:46911956 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.639C>T (p.Asp213=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001086389]|Cenani-Lenz syndactyly syndrome [RCV001107294]|not provided [RCV000338344] Chr11:46898941 [GRCh38]
Chr11:46920492 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.*104C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000323076] Chr11:46858879 [GRCh38]
Chr11:46880430 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5520T>C (p.His1840=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000394958]|Cenani-Lenz syndactyly syndrome [RCV000536074] Chr11:46859181 [GRCh38]
Chr11:46880732 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.2815-6T>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001088893]|not provided [RCV000376467] Chr11:46879321 [GRCh38]
Chr11:46900872 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.52+9C>A single nucleotide variant not provided [RCV000377416] Chr11:46918319 [GRCh38]
Chr11:46939870 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*2212C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000282569] Chr11:46856771 [GRCh38]
Chr11:46878322 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.3(LRP4):c.-188C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000346608] Chr11:46918567 [GRCh38]
Chr11:46940118 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.956G>A (p.Cys319Tyr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104532]|not provided [RCV000310332] Chr11:46896302 [GRCh38]
Chr11:46917853 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000372135] Chr11:46893047 [GRCh38]
Chr11:46914598 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.3278-6C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000399500] Chr11:46876836 [GRCh38]
Chr11:46898387 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5456A>T (p.Asp1819Val) single nucleotide variant not provided [RCV000282162] Chr11:46859245 [GRCh38]
Chr11:46880796 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.842G>T (p.Arg281Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000309038] Chr11:46896949 [GRCh38]
Chr11:46918500 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000401700]|Cenani-Lenz syndactyly syndrome [RCV000875312] Chr11:46868628 [GRCh38]
Chr11:46890179 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) single nucleotide variant not provided [RCV000284635] Chr11:46873506 [GRCh38]
Chr11:46895057 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000264061]|Cenani-Lenz syndactyly syndrome [RCV001317489] Chr11:46879021 [GRCh38]
Chr11:46900572 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000402952] Chr11:46875629 [GRCh38]
Chr11:46897180 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*780C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000276045] Chr11:46858203 [GRCh38]
Chr11:46879754 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.750C>T (p.Cys250=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000333248]|not provided [RCV000920302] Chr11:46898604 [GRCh38]
Chr11:46920155 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.4837+10C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000355421]|Cenani-Lenz syndactyly syndrome [RCV000543863] Chr11:46868978 [GRCh38]
Chr11:46890529 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.*44T>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000380075] Chr11:46858939 [GRCh38]
Chr11:46880490 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000380362] Chr11:46902810 [GRCh38]
Chr11:46924361 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000525905]|Cenani-Lenz syndactyly syndrome [RCV001107675]|not provided [RCV000357498] Chr11:46864509 [GRCh38]
Chr11:46886060 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.3(LRP4):c.-237G>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000311581] Chr11:46918616 [GRCh38]
Chr11:46940167 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000535537]|Cenani-Lenz syndactyly syndrome [RCV001107849]|not specified [RCV000358736] Chr11:46894635 [GRCh38]
Chr11:46916186 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000524562]|Cenani-Lenz syndactyly syndrome [RCV001107019]|not provided [RCV000360139] Chr11:46859041 [GRCh38]
Chr11:46880592 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.*2104C>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000335283] Chr11:46856879 [GRCh38]
Chr11:46878430 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000385597]|Cenani-Lenz syndactyly syndrome [RCV000699181] Chr11:46890423 [GRCh38]
Chr11:46911974 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643985]|not provided [RCV000329322] Chr11:46876595 [GRCh38]
Chr11:46898146 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000361080]|Cenani-Lenz syndactyly syndrome [RCV001088254]|not provided [RCV000730173] Chr11:46878979 [GRCh38]
Chr11:46900530 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.1048+7G>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001084755]|Cenani-Lenz syndactyly syndrome [RCV001102613]|not provided [RCV000401452] Chr11:46896203 [GRCh38]
Chr11:46917754 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000340576]|Cenani-Lenz syndactyly syndrome [RCV000643976] Chr11:46859051 [GRCh38]
Chr11:46880602 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000362404]|Cenani-Lenz syndactyly syndrome [RCV000554575] Chr11:46896317 [GRCh38]
Chr11:46917868 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.734A>G (p.Asn245Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000387619] Chr11:46898620 [GRCh38]
Chr11:46920171 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*372G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000318586] Chr11:46858611 [GRCh38]
Chr11:46880162 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*929C>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000363570] Chr11:46858054 [GRCh38]
Chr11:46879605 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.-146G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000291657] Chr11:46918525 [GRCh38]
Chr11:46940076 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.-5G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000345510] Chr11:46918384 [GRCh38]
Chr11:46939935 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1064C>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000399548] Chr11:46857919 [GRCh38]
Chr11:46879470 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000382105] Chr11:46886424 [GRCh38]
Chr11:46907975 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.528C>T (p.Gly176=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000315804] Chr11:46899406 [GRCh38]
Chr11:46920957 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000315876]|Cenani-Lenz syndactyly syndrome [RCV000821968] Chr11:46871571 [GRCh38]
Chr11:46893122 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2814+10G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000364490] Chr11:46881692 [GRCh38]
Chr11:46903243 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1334dup duplication Cenani-Lenz syndactyly syndrome [RCV000364675] Chr11:46857648..46857649 [GRCh38]
Chr11:46879199..46879200 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000333383] Chr11:46890114 [GRCh38]
Chr11:46911665 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*734C>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000333468] Chr11:46858249 [GRCh38]
Chr11:46879800 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.-133G>A single nucleotide variant Bone Mineral Density Variation [RCV000403686] Chr11:46918512 [GRCh38]
Chr11:46940063 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*666del deletion Cenani-Lenz syndactyly syndrome [RCV000367164] Chr11:46858317 [GRCh38]
Chr11:46879868 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr) single nucleotide variant not provided [RCV000598050] Chr11:46874954 [GRCh38]
Chr11:46896505 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000338690] Chr11:46876530 [GRCh38]
Chr11:46898081 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000324709] Chr11:46873423 [GRCh38]
Chr11:46894974 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*305C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000375494] Chr11:46858678 [GRCh38]
Chr11:46880229 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000531555] Chr11:46900279 [GRCh38]
Chr11:46921830 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4322A>G (p.Asn1441Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000376983] Chr11:46873501 [GRCh38]
Chr11:46895052 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.3(LRP4):c.-193C>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000395177] Chr11:46918572 [GRCh38]
Chr11:46940123 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*2082dup duplication Cenani-Lenz syndactyly syndrome [RCV000395858] Chr11:46856900..46856901 [GRCh38]
Chr11:46878451..46878452 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1662C>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000395868] Chr11:46857321 [GRCh38]
Chr11:46878872 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.570C>T (p.Pro190=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001079240]|not provided [RCV000592442] Chr11:46899010 [GRCh38]
Chr11:46920561 [GRCh37]
Chr11:11p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.431-3del deletion Cenani-Lenz syndactyly syndrome [RCV000883948]|not specified [RCV000592695] Chr11:46899506 [GRCh38]
Chr11:46921057 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001088697]|not provided [RCV000593875] Chr11:46895281 [GRCh38]
Chr11:46916832 [GRCh37]
Chr11:11p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002334.4(LRP4):c.530C>A (p.Ser177Tyr) single nucleotide variant not provided [RCV000723205] Chr11:46899404 [GRCh38]
Chr11:46920955 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4361C>T (p.Ala1454Val) single nucleotide variant not provided [RCV000730050] Chr11:46873462 [GRCh38]
Chr11:46895013 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000537634] Chr11:46873178 [GRCh38]
Chr11:46894729 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3729_3730delinsTT (p.Asn1244Tyr) indel not specified [RCV000412842] Chr11:46875651..46875652 [GRCh38]
Chr11:46897202..46897203 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000763744]|Cenani-Lenz syndactyly syndrome [RCV001107020]|not provided [RCV000412878] Chr11:46859188 [GRCh38]
Chr11:46880739 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1059G>A (p.Thr353=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000558780] Chr11:46896008 [GRCh38]
Chr11:46917559 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2151C>T (p.Gly717=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000553283] Chr11:46889475 [GRCh38]
Chr11:46911026 [GRCh37]
Chr11:11p11.2
benign
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
NM_002334.4(LRP4):c.636C>T (p.Gly212=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001069807]|not specified [RCV000423519] Chr11:46898944 [GRCh38]
Chr11:46920495 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
NM_002334.4(LRP4):c.563C>T (p.Ala188Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001037702]|not specified [RCV000503043] Chr11:46899017 [GRCh38]
Chr11:46920568 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000559331] Chr11:46873190 [GRCh38]
Chr11:46894741 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643974] Chr11:46894763 [GRCh38]
Chr11:46916314 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.257G>A (p.Arg86His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643975] Chr11:46900321 [GRCh38]
Chr11:46921872 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643978]|Cenani-Lenz syndactyly syndrome [RCV001102612] Chr11:46895937 [GRCh38]
Chr11:46917488 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643983]|Cenani-Lenz syndactyly syndrome [RCV001107295] Chr11:46899395 [GRCh38]
Chr11:46920946 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001080504]|not provided [RCV000643990] Chr11:46873415 [GRCh38]
Chr11:46894966 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643991]|Cenani-Lenz syndactyly syndrome [RCV001104142] Chr11:46879262 [GRCh38]
Chr11:46900813 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643995] Chr11:46859145 [GRCh38]
Chr11:46880696 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643977] Chr11:46899429 [GRCh38]
Chr11:46920980 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643979] Chr11:46896257 [GRCh38]
Chr11:46917808 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643984] Chr11:46876574 [GRCh38]
Chr11:46898125 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643981] Chr11:46881770 [GRCh38]
Chr11:46903321 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe) single nucleotide variant not provided [RCV000523365] Chr11:46873180 [GRCh38]
Chr11:46894731 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_46880514)_(47470726_?)del deletion Hypertrophic cardiomyopathy [RCV000629174] Chr11:46880514..47470726 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.141C>G (p.Ala47=) single nucleotide variant not provided [RCV000557227] Chr11:46902841 [GRCh38]
Chr11:46924392 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000557951] Chr11:46895284 [GRCh38]
Chr11:46916835 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000558543]|Cenani-Lenz syndactyly syndrome [RCV001107677] Chr11:46868056 [GRCh38]
Chr11:46889607 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643980] Chr11:46895220 [GRCh38]
Chr11:46916771 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.378G>A (p.Leu126=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107949]|not provided [RCV000643988] Chr11:46899915 [GRCh38]
Chr11:46921466 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643989] Chr11:46873554 [GRCh38]
Chr11:46895105 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.273C>T (p.Asp91=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000643994] Chr11:46900305 [GRCh38]
Chr11:46921856 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000698552] Chr11:46889507 [GRCh38]
Chr11:46911058 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000687542] Chr11:46874927 [GRCh38]
Chr11:46896478 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000706686] Chr11:46881778 [GRCh38]
Chr11:46903329 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000690106] Chr11:46868076 [GRCh38]
Chr11:46889627 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000687404] Chr11:46873167 [GRCh38]
Chr11:46894718 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000688201] Chr11:46886362 [GRCh38]
Chr11:46907913 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.788G>A (p.Arg263His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000702562] Chr11:46898566 [GRCh38]
Chr11:46920117 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.851G>A (p.Arg284His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000694030]|Cenani-Lenz syndactyly syndrome [RCV001104534] Chr11:46896940 [GRCh38]
Chr11:46918491 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000699205] Chr11:46879264 [GRCh38]
Chr11:46900815 [GRCh37]
Chr11:11p11.2
pathogenic
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000706081] Chr11:46895892 [GRCh38]
Chr11:46917443 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000698136] Chr11:46875922 [GRCh38]
Chr11:46897473 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000694855] Chr11:46874885 [GRCh38]
Chr11:46896436 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.605G>A (p.Arg202His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000706837] Chr11:46898975 [GRCh38]
Chr11:46920526 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5414_5416AGA[1] (p.Lys1806del) microsatellite Cenani-Lenz syndactyly syndrome [RCV000707048] Chr11:46859282..46859284 [GRCh38]
Chr11:46880833..46880835 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000690648] Chr11:46864497 [GRCh38]
Chr11:46886048 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000695705] Chr11:46869126 [GRCh38]
Chr11:46890677 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000704986] Chr11:46874875 [GRCh38]
Chr11:46896426 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000696798] Chr11:46876777 [GRCh38]
Chr11:46898328 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000874686]|Cenani-Lenz syndactyly syndrome [RCV001107777] Chr11:46876573 [GRCh38]
Chr11:46898124 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.387C>T (p.Cys129=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000875532] Chr11:46899906 [GRCh38]
Chr11:46921457 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.2835C>T (p.Leu945=) single nucleotide variant not provided [RCV000761771] Chr11:46879295 [GRCh38]
Chr11:46900846 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000981777] Chr11:46869018 [GRCh38]
Chr11:46890569 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) single nucleotide variant not provided [RCV000878863] Chr11:46874919 [GRCh38]
Chr11:46896470 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=) single nucleotide variant not provided [RCV000902399] Chr11:46875544 [GRCh38]
Chr11:46897095 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4953G>C (p.Val1651=) single nucleotide variant not provided [RCV000945670] Chr11:46868113 [GRCh38]
Chr11:46889664 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000882097] Chr11:46875628 [GRCh38]
Chr11:46897179 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) single nucleotide variant not provided [RCV000877230] Chr11:46876612 [GRCh38]
Chr11:46898163 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1546C>T (p.Leu516=) single nucleotide variant not provided [RCV000943512] Chr11:46893124 [GRCh38]
Chr11:46914675 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000892671] Chr11:46868002 [GRCh38]
Chr11:46889553 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.53-8C>T single nucleotide variant not provided [RCV000899786] Chr11:46902937 [GRCh38]
Chr11:46924488 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2988C>T (p.His996=) single nucleotide variant not provided [RCV000976003] Chr11:46879142 [GRCh38]
Chr11:46900693 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1233C>T (p.Asn411=) single nucleotide variant not provided [RCV000945931] Chr11:46895242 [GRCh38]
Chr11:46916793 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=) single nucleotide variant not provided [RCV000920686] Chr11:46875520 [GRCh38]
Chr11:46897071 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.630C>T (p.Cys210=) single nucleotide variant not provided [RCV000923519] Chr11:46898950 [GRCh38]
Chr11:46920501 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1344C>T (p.Ile448=) single nucleotide variant not provided [RCV000982130] Chr11:46894785 [GRCh38]
Chr11:46916336 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=) single nucleotide variant not provided [RCV000976884] Chr11:46879010 [GRCh38]
Chr11:46900561 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.585G>A (p.Glu195=) single nucleotide variant not provided [RCV000879624] Chr11:46898995 [GRCh38]
Chr11:46920546 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001050188] Chr11:46868996 [GRCh38]
Chr11:46890547 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001051326] Chr11:46895913 [GRCh38]
Chr11:46917464 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001062124] Chr11:46871623 [GRCh38]
Chr11:46893174 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001035393] Chr11:46874881 [GRCh38]
Chr11:46896432 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000807196] Chr11:46862613 [GRCh38]
Chr11:46884164 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4674C>T (p.His1558=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000873717]|Cenani-Lenz syndactyly syndrome [RCV001104358] Chr11:46871543 [GRCh38]
Chr11:46893094 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=) single nucleotide variant not provided [RCV000873807] Chr11:46876543 [GRCh38]
Chr11:46898094 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1310-9G>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000871152] Chr11:46894828 [GRCh38]
Chr11:46916379 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=) single nucleotide variant not provided [RCV000908408] Chr11:46894749 [GRCh38]
Chr11:46916300 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2425-6G>T single nucleotide variant not provided [RCV000919650] Chr11:46886178 [GRCh38]
Chr11:46907729 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4584-5C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000878573] Chr11:46871638 [GRCh38]
Chr11:46893189 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2202C>T (p.His734=) single nucleotide variant not provided [RCV000944795] Chr11:46889424 [GRCh38]
Chr11:46910975 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.222T>C (p.Leu74=) single nucleotide variant not provided [RCV000896103] Chr11:46900356 [GRCh38]
Chr11:46921907 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1584C>T (p.Thr528=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000874509] Chr11:46893086 [GRCh38]
Chr11:46914637 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.768T>C (p.Cys256=) single nucleotide variant not provided [RCV000897549] Chr11:46898586 [GRCh38]
Chr11:46920137 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.531C>T (p.Ser177=) single nucleotide variant not provided [RCV000937349] Chr11:46899403 [GRCh38]
Chr11:46920954 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000951661]|Cenani-Lenz syndactyly syndrome [RCV001107851]|not provided [RCV001311760] Chr11:46894638 [GRCh38]
Chr11:46916189 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) single nucleotide variant not provided [RCV000880224] Chr11:46869013 [GRCh38]
Chr11:46890564 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000809909] Chr11:46894619 [GRCh38]
Chr11:46916170 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000817374] Chr11:46890027 [GRCh38]
Chr11:46911578 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=) single nucleotide variant not provided [RCV000938225] Chr11:46875556 [GRCh38]
Chr11:46897107 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.676+4A>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000820204] Chr11:46898900 [GRCh38]
Chr11:46920451 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000806941] Chr11:46859275 [GRCh38]
Chr11:46880826 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000799868] Chr11:46865173 [GRCh38]
Chr11:46886724 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000814332] Chr11:46865148 [GRCh38]
Chr11:46886699 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000816387] Chr11:46859032 [GRCh38]
Chr11:46880583 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000800198] Chr11:46868623 [GRCh38]
Chr11:46890174 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000794800] Chr11:46896284 [GRCh38]
Chr11:46917835 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000812402] Chr11:46894760 [GRCh38]
Chr11:46916311 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000800392] Chr11:46873104 [GRCh38]
Chr11:46894655 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000822090] Chr11:46868701 [GRCh38]
Chr11:46890252 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000805734] Chr11:46890360 [GRCh38]
Chr11:46911911 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys) single nucleotide variant not provided [RCV000994625] Chr11:46867995 [GRCh38]
Chr11:46889546 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000808919] Chr11:46875542 [GRCh38]
Chr11:46897093 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000796485] Chr11:46865136 [GRCh38]
Chr11:46886687 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000816928] Chr11:46873139 [GRCh38]
Chr11:46894690 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000806876] Chr11:46896210 [GRCh38]
Chr11:46917761 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000800789] Chr11:46879150 [GRCh38]
Chr11:46900701 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn) deletion Cenani-Lenz syndactyly syndrome [RCV000792536] Chr11:46862724..46862732 [GRCh38]
Chr11:46884275..46884283 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000792223] Chr11:46881890 [GRCh38]
Chr11:46903441 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000824197] Chr11:46902917 [GRCh38]
Chr11:46924468 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000790992]|Myasthenic syndrome, congenital, 17 [RCV000790993] Chr11:46876762 [GRCh38]
Chr11:46898313 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000821797]|Cenani-Lenz syndactyly syndrome [RCV001104535] Chr11:46896965 [GRCh38]
Chr11:46918516 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3255C>T (p.Ala1085=) single nucleotide variant not provided [RCV000893311] Chr11:46877221 [GRCh38]
Chr11:46898772 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000893853] Chr11:46877281 [GRCh38]
Chr11:46898832 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.9G>A (p.Arg3=) single nucleotide variant not provided [RCV000940527] Chr11:46918371 [GRCh38]
Chr11:46939922 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000874608] Chr11:46873568 [GRCh38]
Chr11:46895119 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.806T>C (p.Met269Thr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001214109] Chr11:46896985 [GRCh38]
Chr11:46918536 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001211955] Chr11:46902912 [GRCh38]
Chr11:46924463 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001213829] Chr11:46859143 [GRCh38]
Chr11:46880694 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001059429]|Cenani-Lenz syndactyly syndrome [RCV001104141]|not provided [RCV000994626] Chr11:46878970 [GRCh38]
Chr11:46900521 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001201642] Chr11:46868075 [GRCh38]
Chr11:46889626 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001231596] Chr11:46886506 [GRCh38]
Chr11:46908057 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.695G>A (p.Arg232His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001223781] Chr11:46898659 [GRCh38]
Chr11:46920210 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.797-3C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001217067] Chr11:46896997 [GRCh38]
Chr11:46918548 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001202911] Chr11:46896013 [GRCh38]
Chr11:46917564 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001233776] Chr11:46879195 [GRCh38]
Chr11:46900746 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001220488] Chr11:46894691 [GRCh38]
Chr11:46916242 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001211227] Chr11:46859201 [GRCh38]
Chr11:46880752 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.431-9T>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001211295] Chr11:46899512 [GRCh38]
Chr11:46921063 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001228404] Chr11:46899976 [GRCh38]
Chr11:46921527 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*2054C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001106909] Chr11:46856929 [GRCh38]
Chr11:46878480 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.*1546C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001106911] Chr11:46857437 [GRCh38]
Chr11:46878988 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1467C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001106912] Chr11:46857516 [GRCh38]
Chr11:46879067 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107205] Chr11:46889514 [GRCh38]
Chr11:46911065 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*363C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104251] Chr11:46858620 [GRCh38]
Chr11:46880171 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107776] Chr11:46876493 [GRCh38]
Chr11:46898044 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107850] Chr11:46894637 [GRCh38]
Chr11:46916188 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*2252G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001105797] Chr11:46856731 [GRCh38]
Chr11:46878282 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.*54G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001105798] Chr11:46858929 [GRCh38]
Chr11:46880480 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.*2080T>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001105799] Chr11:46856903 [GRCh38]
Chr11:46878454 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1368C>T (p.His456=) single nucleotide variant not provided [RCV000876886] Chr11:46894761 [GRCh38]
Chr11:46916312 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.501C>T (p.Cys167=) single nucleotide variant not provided [RCV000902778] Chr11:46899433 [GRCh38]
Chr11:46920984 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.894C>T (p.Asn298=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000929714] Chr11:46896897 [GRCh38]
Chr11:46918448 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.3700-10T>C single nucleotide variant not provided [RCV000881191] Chr11:46875691 [GRCh38]
Chr11:46897242 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.759C>T (p.Asp253=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000960730]|Cenani-Lenz syndactyly syndrome [RCV001107293] Chr11:46898595 [GRCh38]
Chr11:46920146 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.3699+10G>A single nucleotide variant not provided [RCV000907862] Chr11:46875794 [GRCh38]
Chr11:46897345 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4665T>C (p.His1555=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000954548] Chr11:46871552 [GRCh38]
Chr11:46893103 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000874652]|Cenani-Lenz syndactyly syndrome [RCV001104448] Chr11:46883948 [GRCh38]
Chr11:46905499 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_002334.4(LRP4):c.3365-9T>C single nucleotide variant not provided [RCV000878885] Chr11:46876646 [GRCh38]
Chr11:46898197 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1086C>T (p.Asn362=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000952373] Chr11:46895981 [GRCh38]
Chr11:46917532 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1023C>T (p.Ser341=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000963566] Chr11:46896235 [GRCh38]
Chr11:46917786 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000960756] Chr11:46886161 [GRCh38]
Chr11:46907712 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=) single nucleotide variant not provided [RCV000964786] Chr11:46873569 [GRCh38]
Chr11:46895120 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=) single nucleotide variant not provided [RCV000937417] Chr11:46862675 [GRCh38]
Chr11:46884226 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000873886] Chr11:46896253 [GRCh38]
Chr11:46917804 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000877100]|Cenani-Lenz syndactyly syndrome [RCV001102611] Chr11:46894764 [GRCh38]
Chr11:46916315 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.426G>A (p.Gln142=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000878059] Chr11:46899867 [GRCh38]
Chr11:46921418 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000878067] Chr11:46864513 [GRCh38]
Chr11:46886064 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000952048]|Cenani-Lenz syndactyly syndrome [RCV001104052] Chr11:46868661 [GRCh38]
Chr11:46890212 [GRCh37]
Chr11:11p11.2
benign|uncertain significance
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001244513] Chr11:46875917 [GRCh38]
Chr11:46897468 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001053583] Chr11:46875089 [GRCh38]
Chr11:46896640 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4230-10T>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001056426] Chr11:46873603 [GRCh38]
Chr11:46895154 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2770A>G (p.Met924Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001056837] Chr11:46881746 [GRCh38]
Chr11:46903297 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001243118] Chr11:46879293 [GRCh38]
Chr11:46900844 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001066200] Chr11:46878976 [GRCh38]
Chr11:46900527 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001243289] Chr11:46899393 [GRCh38]
Chr11:46920944 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1322G>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107574] Chr11:46857661 [GRCh38]
Chr11:46879212 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.-75A>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001102717] Chr11:46918454 [GRCh38]
Chr11:46940005 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.431-12G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107948] Chr11:46899515 [GRCh38]
Chr11:46921066 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.168C>T (p.Asp56=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107951] Chr11:46902814 [GRCh38]
Chr11:46924365 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.51C>T (p.His17=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107952] Chr11:46918329 [GRCh38]
Chr11:46939880 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001216948] Chr11:46886121 [GRCh38]
Chr11:46907672 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4930G>A (p.Asp1644Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104049] Chr11:46868621 [GRCh38]
Chr11:46890172 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*379C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104250] Chr11:46858604 [GRCh38]
Chr11:46880155 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4384C>T (p.Arg1462Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104359] Chr11:46873439 [GRCh38]
Chr11:46894990 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104447]|Cenani-Lenz syndactyly syndrome [RCV001345966] Chr11:46883874 [GRCh38]
Chr11:46905425 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.933A>G (p.Gln311=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104533] Chr11:46896325 [GRCh38]
Chr11:46917876 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.724C>T (p.Leu242=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV000912082] Chr11:46898630 [GRCh38]
Chr11:46920181 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.417C>T (p.Ser139=) single nucleotide variant not provided [RCV000933714] Chr11:46899876 [GRCh38]
Chr11:46921427 [GRCh37]
Chr11:11p11.2
likely benign
NM_002334.4(LRP4):c.*665G>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001103963] Chr11:46858318 [GRCh38]
Chr11:46879869 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4914C>G (p.Ala1638=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104050] Chr11:46868637 [GRCh38]
Chr11:46890188 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1273G>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107575] Chr11:46857710 [GRCh38]
Chr11:46879261 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1151C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107576] Chr11:46857832 [GRCh38]
Chr11:46879383 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.3615C>T (p.Leu1205=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107775] Chr11:46875888 [GRCh38]
Chr11:46897439 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104356] Chr11:46869062 [GRCh38]
Chr11:46890613 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2420A>C (p.Gln807Pro) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104450] Chr11:46886329 [GRCh38]
Chr11:46907880 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*609A>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001103964] Chr11:46858374 [GRCh38]
Chr11:46879925 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.10:g.46918572G>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001102719] Chr11:46918572 [GRCh38]
Chr11:46940123 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.776A>G (p.Gln259Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107292] Chr11:46898578 [GRCh38]
Chr11:46920129 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107950] Chr11:46900288 [GRCh38]
Chr11:46921839 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.10:g.46918553C>T single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001102718] Chr11:46918553 [GRCh38]
Chr11:46940104 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) single nucleotide variant not provided [RCV001092804] Chr11:46874846 [GRCh38]
Chr11:46896397 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001063070] Chr11:46868988 [GRCh38]
Chr11:46890539 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1829G>A (p.Arg610His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001069806] Chr11:46890363 [GRCh38]
Chr11:46911914 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001235688] Chr11:46868615 [GRCh38]
Chr11:46890166 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001041223] Chr11:46859075 [GRCh38]
Chr11:46880626 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His) single nucleotide variant LRP4-Related Disorder [RCV001249455] Chr11:46868006 [GRCh38]
Chr11:46889557 [GRCh37]
Chr11:11p11.2
not provided
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001207470] Chr11:46876551 [GRCh38]
Chr11:46898102 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001206320] Chr11:46875074 [GRCh38]
Chr11:46896625 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1698-9_1698-5del deletion Cenani-Lenz syndactyly syndrome [RCV001229935] Chr11:46890499..46890503 [GRCh38]
Chr11:46912050..46912054 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4207G>C (p.Asp1403His) single nucleotide variant Isolated hand syndactyly [RCV001034554] Chr11:46874822 [GRCh38]
Chr11:46896373 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_002334.4(LRP4):c.4690C>A (p.Gln1564Lys) single nucleotide variant Isolated hand syndactyly [RCV001034555] Chr11:46871527 [GRCh38]
Chr11:46893078 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001220056] Chr11:46899971 [GRCh38]
Chr11:46921522 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001208727] Chr11:46899488 [GRCh38]
Chr11:46921039 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*921A>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001103962] Chr11:46858062 [GRCh38]
Chr11:46879613 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4693-9G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104357] Chr11:46869141 [GRCh38]
Chr11:46890692 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2482A>G (p.Asn828Asp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104449] Chr11:46886115 [GRCh38]
Chr11:46907666 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104531] Chr11:46896295 [GRCh38]
Chr11:46917846 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2081G>A (p.Arg694His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001215190] Chr11:46889955 [GRCh38]
Chr11:46911506 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1308G>A (p.Leu436=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001208118] Chr11:46895167 [GRCh38]
Chr11:46916718 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001035496] Chr11:46874947 [GRCh38]
Chr11:46896498 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001036057] Chr11:46895970 [GRCh38]
Chr11:46917521 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001036757] Chr11:46859161 [GRCh38]
Chr11:46880712 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001061447] Chr11:46895914 [GRCh38]
Chr11:46917465 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1627A>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001106910] Chr11:46857356 [GRCh38]
Chr11:46878907 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107103] Chr11:46874935 [GRCh38]
Chr11:46896486 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107204] Chr11:46886432 [GRCh38]
Chr11:46907983 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*1445A>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107572] Chr11:46857538 [GRCh38]
Chr11:46879089 [GRCh37]
Chr11:11p11.2
benign
NM_002334.4(LRP4):c.*1335G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107573] Chr11:46857648 [GRCh38]
Chr11:46879199 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4940C>G (p.Pro1647Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107679] Chr11:46868611 [GRCh38]
Chr11:46890162 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1608G>A (p.Glu536=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001107847] Chr11:46893062 [GRCh38]
Chr11:46914613 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*415C>G single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104249] Chr11:46858568 [GRCh38]
Chr11:46880119 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*329T>C single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104252] Chr11:46858654 [GRCh38]
Chr11:46880205 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.*242G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104253] Chr11:46858741 [GRCh38]
Chr11:46880292 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001104451] Chr11:46886375 [GRCh38]
Chr11:46907926 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1433G>A (p.Arg478His) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001036858] Chr11:46894696 [GRCh38]
Chr11:46916247 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001262713] Chr11:46890298 [GRCh38]
Chr11:46911849 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001338645] Chr11:46899486 [GRCh38]
Chr11:46921037 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2215+5G>A single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001304307] Chr11:46889406 [GRCh38]
Chr11:46910957 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001349613] Chr11:46895190 [GRCh38]
Chr11:46916741 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001306722] Chr11:46894697 [GRCh38]
Chr11:46916248 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001304882] Chr11:46894641 [GRCh38]
Chr11:46916192 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001318899] Chr11:46890492 [GRCh38]
Chr11:46912043 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001309563] Chr11:46896904 [GRCh38]
Chr11:46918455 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001325439] Chr11:46889956 [GRCh38]
Chr11:46911507 [GRCh37]
Chr11:11p11.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001313166] Chr11:46896012 [GRCh38]
Chr11:46917563 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001321565] Chr11:46896009 [GRCh38]
Chr11:46917560 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001346495] Chr11:46879213 [GRCh38]
Chr11:46900764 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001316463] Chr11:46876529 [GRCh38]
Chr11:46898080 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001324841] Chr11:46859083 [GRCh38]
Chr11:46880634 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001346230] Chr11:46900304 [GRCh38]
Chr11:46921855 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001347463] Chr11:46890462 [GRCh38]
Chr11:46912013 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001335020] Chr11:46873578 [GRCh38]
Chr11:46895129 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser) single nucleotide variant Cenani-Lenz syndactyly syndrome [RCV001306824] Chr11:46875862 [GRCh38]
Chr11:46897413 [GRCh37]
Chr11:11p11.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6696 AgrOrtholog
COSMIC LRP4 COSMIC
Ensembl Genes ENSG00000134569 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367888 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434763 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378623 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000534404 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134569 GTEx
HGNC ID HGNC:6696 ENTREZGENE
Human Proteome Map LRP4 Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_classB_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4038 UniProtKB/Swiss-Prot
NCBI Gene 4038 ENTREZGENE
OMIM 212780 OMIM
  604270 OMIM
  614305 OMIM
  616304 OMIM
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30454 PharmGKB
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00135 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DQQ7_HUMAN UniProtKB/TrEMBL
  E9PNJ5_HUMAN UniProtKB/TrEMBL
  LRP4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RN39 UniProtKB/Swiss-Prot
  Q4AC85 UniProtKB/Swiss-Prot
  Q5KTZ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 LRP4  LDL receptor related protein 4    low density lipoprotein receptor-related protein 4  Symbol and/or name change 5135510 APPROVED