RANBP2 (RAN binding protein 2) - Rat Genome Database
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Gene: RANBP2 (RAN binding protein 2) Homo sapiens
Analyze
Symbol: RANBP2
Name: RAN binding protein 2
RGD ID: 1351414
HGNC Page HGNC
Description: Exhibits SUMO transferase activity and small GTPase binding activity. Involved in NLS-bearing protein import into nucleus; centrosome localization; and protein sumoylation. Localizes to annulate lamellae and nucleus. Implicated in brain disease and inflammatory myofibroblastic tumor. Biomarker of multiple myeloma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 358 kDa nucleoporin; acute necrotizing encephalopathy 1 (autosomal dominant); ADANE; ANE1; E3 SUMO-protein ligase RanBP2; E3 SUMO-protein transferase RanBP2; IIAE3; nuclear pore complex protein Nup358; nucleoporin 358; nucleoporin Nup358; NUP358; P270; ran-binding protein 2; transformation-related protein 2; TRP1; TRP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 Ensembl2108,719,482 - 108,785,809 (+)EnsemblGRCh38hg38GRCh38
GRCh382108,719,446 - 108,785,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,335,938 - 109,402,265 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,702,369 - 108,768,699 (+)NCBINCBI36hg18NCBI36
Build 342108,794,454 - 108,859,768NCBI
Celera2103,645,916 - 103,712,243 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2102,934,349 - 103,000,733 (+)NCBIHuRef
CHM1_12109,340,280 - 109,406,595 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7559465   PMID:7603572   PMID:7724562   PMID:7775481   PMID:7882974   PMID:8857542   PMID:8909533   PMID:9019411   PMID:9037092   PMID:9114010   PMID:9144189   PMID:9244446  
PMID:9398662   PMID:9456312   PMID:9480752   PMID:9733766   PMID:10078529   PMID:10318915   PMID:10473610   PMID:10601273   PMID:10601307   PMID:10668806   PMID:11266456   PMID:11353387  
PMID:11470507   PMID:11553612   PMID:11709548   PMID:11792325   PMID:11839768   PMID:11854305   PMID:12032081   PMID:12138183   PMID:12191015   PMID:12192048   PMID:12228227   PMID:12393906  
PMID:12874403   PMID:12894213   PMID:12963708   PMID:14729961   PMID:14755735   PMID:15037602   PMID:15144186   PMID:15174051   PMID:15302935   PMID:15378033   PMID:15388847   PMID:15608651  
PMID:15632063   PMID:15815621   PMID:15826666   PMID:15840729   PMID:15931224   PMID:16194093   PMID:16204249   PMID:16314397   PMID:16314522   PMID:16332688   PMID:16524884   PMID:16565220  
PMID:16586133   PMID:16620772   PMID:16688858   PMID:16730000   PMID:16964243   PMID:17081983   PMID:17098863   PMID:17168522   PMID:17264123   PMID:17314511   PMID:17353931   PMID:17887960  
PMID:17911097   PMID:18080148   PMID:18187620   PMID:18239623   PMID:18305100   PMID:18359863   PMID:18394993   PMID:18691615   PMID:18854154   PMID:18946085   PMID:18984154   PMID:19182791  
PMID:19299463   PMID:19305391   PMID:19454010   PMID:19654215   PMID:19785004   PMID:19807769   PMID:19811512   PMID:19828735   PMID:19946888   PMID:20085707   PMID:20360068   PMID:20386726  
PMID:20467437   PMID:20473521   PMID:20547757   PMID:20676357   PMID:20936779   PMID:21145461   PMID:21179483   PMID:21256132   PMID:21423673   PMID:21518904   PMID:21568279   PMID:21670213  
PMID:21859863   PMID:21873635   PMID:21988832   PMID:21995724   PMID:22155184   PMID:22174692   PMID:22190034   PMID:22194619   PMID:22262462   PMID:22412018   PMID:22464730   PMID:22578841  
PMID:22586326   PMID:22678362   PMID:22762018   PMID:22939629   PMID:22956906   PMID:23087682   PMID:23353830   PMID:23414517   PMID:23602568   PMID:23630457   PMID:23798571   PMID:23818861  
PMID:23824909   PMID:23883001   PMID:23902822   PMID:24034896   PMID:24051001   PMID:24113188   PMID:24196705   PMID:24196714   PMID:24211586   PMID:24457600   PMID:24470379   PMID:24525292  
PMID:24586169   PMID:24586428   PMID:24613277   PMID:24639526   PMID:24711643   PMID:24855949   PMID:24909165   PMID:24927568   PMID:25036886   PMID:25147212   PMID:25294810   PMID:25315684  
PMID:25473726   PMID:25515538   PMID:25522933   PMID:25609649   PMID:25731773   PMID:25756610   PMID:25963833   PMID:26109731   PMID:26186194   PMID:26251516   PMID:26261240   PMID:26272610  
PMID:26344197   PMID:26364603   PMID:26496610   PMID:26618866   PMID:26658161   PMID:26972000   PMID:27160050   PMID:27248496   PMID:27327622   PMID:27342126   PMID:27545878   PMID:27609421  
PMID:27634302   PMID:27637333   PMID:27684187   PMID:27880917   PMID:27882739   PMID:28039207   PMID:28242625   PMID:28378594   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28600321  
PMID:28675297   PMID:28692047   PMID:28718761   PMID:28846114   PMID:28882106   PMID:28900032   PMID:28963881   PMID:29045831   PMID:29180619   PMID:29229926   PMID:29295817   PMID:29379164  
PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29564676   PMID:29706609   PMID:29844126   PMID:29955894   PMID:30021884   PMID:30196744   PMID:30333138   PMID:30349055  
PMID:30463901   PMID:30561431   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31010829   PMID:31040226   PMID:31073040   PMID:31091453   PMID:31177093   PMID:31180492   PMID:31267705  
PMID:31300519   PMID:31375530   PMID:31519766   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31620119   PMID:31685992   PMID:31812350   PMID:31980649   PMID:32161167   PMID:32224012  
PMID:32416067   PMID:32450081   PMID:32529326   PMID:32780723   PMID:32786267   PMID:33113626   PMID:33144569  


Genomics

Comparative Map Data
RANBP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2108,719,482 - 108,785,809 (+)EnsemblGRCh38hg38GRCh38
GRCh382108,719,446 - 108,785,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372109,335,938 - 109,402,265 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362108,702,369 - 108,768,699 (+)NCBINCBI36hg18NCBI36
Build 342108,794,454 - 108,859,768NCBI
Celera2103,645,916 - 103,712,243 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2102,934,349 - 103,000,733 (+)NCBIHuRef
CHM1_12109,340,280 - 109,406,595 (+)NCBICHM1_1
Ranbp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391058,282,674 - 58,329,977 (+)NCBIGRCm39mm39
GRCm39 Ensembl1058,282,742 - 58,330,178 (+)Ensembl
GRCm381058,446,852 - 58,494,155 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1058,446,920 - 58,494,356 (+)EnsemblGRCm38mm10GRCm38
MGSCv371057,909,600 - 57,956,903 (+)NCBIGRCm37mm9NCBIm37
MGSCv361057,842,209 - 57,889,512 (+)NCBImm8
Celera1059,184,895 - 59,203,874 (+)NCBICelera
Celera712,211,992 - 12,212,429 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1029.34NCBI
Ranbp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22026,442,156 - 26,493,481 (+)NCBI
Rnor_6.0 Ensembl2028,365,988 - 28,375,791 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl2028,027,054 - 28,076,664 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02028,027,054 - 28,076,664 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.02028,365,538 - 28,375,676 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02030,181,409 - 30,191,111 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02029,846,539 - 29,896,149 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42037,271,467 - 37,322,723 (-)NCBIRGSC3.4rn4RGSC3.4
Celera2027,892,535 - 27,943,825 (+)NCBICelera
Cytogenetic Map20q11NCBI
Ranbp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547012,180,544 - 12,249,555 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547012,180,426 - 12,247,737 (+)NCBIChiLan1.0ChiLan1.0
LOC100989340
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A110,010,961 - 110,039,769 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02A94,961,024 - 95,029,437 (+)NCBIMhudiblu_PPA_v0panPan3
RANBP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1035,088,872 - 35,181,129 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11035,088,175 - 35,181,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
LOC101974817
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936829261,017 - 333,910 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100511376
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl347,531,358 - 47,601,379 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1347,531,362 - 47,601,328 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2349,693,982 - 49,735,050 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RANBP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11412,250,986 - 12,318,801 (+)NCBI
ChlSab1.1 Ensembl1412,251,007 - 12,319,735 (+)Ensembl

Position Markers
SHGC-36406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,399,848 - 109,399,975UniSTSGRCh37
Build 362108,766,280 - 108,766,407RGDNCBI36
Celera2103,709,824 - 103,709,951RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2102,998,314 - 102,998,441UniSTS
GeneMap99-G3 RH Map25705.0UniSTS
RH79061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,401,599 - 109,401,729UniSTSGRCh37
Build 362108,768,031 - 108,768,161RGDNCBI36
Celera2103,711,575 - 103,711,705RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2103,000,065 - 103,000,195UniSTS
RH98799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,401,597 - 109,401,730UniSTSGRCh37
Build 362108,768,029 - 108,768,162RGDNCBI36
Celera2103,711,573 - 103,711,706RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2103,000,063 - 103,000,196UniSTS
GeneMap99-GB4 RH Map2388.19UniSTS
RH78999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,402,015 - 109,402,137UniSTSGRCh37
Build 362108,768,447 - 108,768,569RGDNCBI36
Celera2103,711,991 - 103,712,113RGD
Cytogenetic Map2q12.3UniSTS
HuRef2103,000,481 - 103,000,603UniSTS
RH67924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,400,955 - 109,401,087UniSTSGRCh37
Build 362108,767,387 - 108,767,519RGDNCBI36
Celera2103,710,931 - 103,711,063RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2102,999,421 - 102,999,553UniSTS
GeneMap99-GB4 RH Map2388.52UniSTS
RH18435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372109,400,876 - 109,401,072UniSTSGRCh37
Build 362108,767,308 - 108,767,504RGDNCBI36
Celera2103,710,852 - 103,711,048RGD
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS
HuRef2102,999,342 - 102,999,538UniSTS
GeneMap99-GB4 RH Map2388.13UniSTS
RH16188  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q13UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map2p11.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR708hsa-miR-708-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:785
Count of miRNA genes:533
Interacting mature miRNAs:613
Transcripts:ENST00000283195, ENST00000425282, ENST00000495506, ENST00000495924
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2371 1960 1502 407 1330 249 4324 1865 2427 316 1434 1601 171 1198 2762 4
Low 66 1028 224 217 619 216 32 332 1304 103 25 12 4 1 6 26 2 2
Below cutoff 1 3 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA971491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC153804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY170822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D42063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB525378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L41840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000283195   ⟹   ENSP00000283195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,719,482 - 108,785,809 (+)Ensembl
RefSeq Acc Id: ENST00000425282   ⟹   ENSP00000398970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,719,553 - 108,735,551 (+)Ensembl
RefSeq Acc Id: ENST00000495506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,751,551 - 108,753,097 (+)Ensembl
RefSeq Acc Id: ENST00000495924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,730,817 - 108,731,898 (+)Ensembl
RefSeq Acc Id: ENST00000629728   ⟹   ENSP00000485979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2108,719,607 - 108,731,337 (+)Ensembl
RefSeq Acc Id: NM_006267   ⟹   NP_006258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,482 - 108,785,809 (+)NCBI
GRCh372109,335,902 - 109,402,267 (+)NCBI
Build 362108,702,369 - 108,768,699 (+)NCBI Archive
HuRef2102,934,349 - 103,000,733 (+)ENTREZGENE
CHM1_12109,340,280 - 109,406,595 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264002   ⟹   XP_005264059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,785,809 (+)NCBI
GRCh372109,335,902 - 109,402,267 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264003   ⟹   XP_005264060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,784,791 (+)NCBI
GRCh372109,335,902 - 109,402,267 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264004   ⟹   XP_005264061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,784,791 (+)NCBI
GRCh372109,335,902 - 109,402,267 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264005   ⟹   XP_005264062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,953 - 108,784,791 (+)NCBI
GRCh372109,335,902 - 109,402,267 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264007   ⟹   XP_005264064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,784,791 (+)NCBI
GRCh372109,335,902 - 109,402,267 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511575   ⟹   XP_011509877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,540 - 108,784,791 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511576   ⟹   XP_011509878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,784,791 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511578   ⟹   XP_011509880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,473 - 108,785,809 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004624   ⟹   XP_016860113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,763,894 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004625   ⟹   XP_016860114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,446 - 108,762,054 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006258   ⟸   NM_006267
- UniProtKB: P49792 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264059   ⟸   XM_005264002
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005264060   ⟸   XM_005264003
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005264061   ⟸   XM_005264004
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005264064   ⟸   XM_005264007
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_005264062   ⟸   XM_005264005
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509878   ⟸   XM_011511576
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011509877   ⟸   XM_011511575
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011509880   ⟸   XM_011511578
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016860114   ⟸   XM_017004625
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016860113   ⟸   XM_017004624
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000398970   ⟸   ENST00000425282
RefSeq Acc Id: ENSP00000283195   ⟸   ENST00000283195
RefSeq Acc Id: ENSP00000485979   ⟸   ENST00000629728
Protein Domains
PPIase cyclophilin-type   RanBD1

Promoters
RGD ID:6798050
Promoter ID:HG_KWN:34360
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409491,   NM_006267,   OTTHUMT00000330302,   OTTHUMT00000330303,   OTTHUMT00000331200
Position:
Human AssemblyChrPosition (strand)Source
Build 362108,702,064 - 108,702,564 (+)MPROMDB
RGD ID:6861292
Promoter ID:EPDNEW_H3811
Type:initiation region
Name:RANBP2_1
Description:RAN binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382108,719,482 - 108,719,542EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006267.5(RANBP2):c.3228_3229delinsAA (p.Gln1077Lys) indel Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551201] Chr2:108763767..108763768 [GRCh38]
Chr2:109380223..109380224 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549084] Chr2:108754945 [GRCh38]
Chr2:109371401 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.4950A>G (p.Thr1650=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526818] Chr2:108765489 [GRCh38]
Chr2:109381945 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7474A>C (p.Thr2492Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527202] Chr2:108768013 [GRCh38]
Chr2:109384469 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6171G>A (p.Leu2057=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533038] Chr2:108766710 [GRCh38]
Chr2:109383166 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.3153T>C (p.Val1051=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547723] Chr2:108763692 [GRCh38]
Chr2:109380148 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6060C>T (p.Pro2020=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554459] Chr2:108766599 [GRCh38]
Chr2:109383055 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6033C>T (p.Ile2011=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544324] Chr2:108766572 [GRCh38]
Chr2:109383028 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554948] Chr2:108766192 [GRCh38]
Chr2:109382648 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1718C>G (p.Ala573Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000532671] Chr2:108751957 [GRCh38]
Chr2:109368413 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4801G>T (p.Gly1601Ter) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000655953] Chr2:108765340 [GRCh38]
Chr2:109381796 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7850-6T>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544112] Chr2:108771695 [GRCh38]
Chr2:109388151 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1738G>A (p.Glu580Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542999] Chr2:108751977 [GRCh38]
Chr2:109368433 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.3242A>G (p.Tyr1081Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000524654] Chr2:108763781 [GRCh38]
Chr2:109380237 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5452C>T (p.Pro1818Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000525208] Chr2:108765991 [GRCh38]
Chr2:109382447 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8166G>A (p.Glu2722=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000543877] Chr2:108772920 [GRCh38]
Chr2:109389376 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1284A>G (p.Arg428=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000544227] Chr2:108751274 [GRCh38]
Chr2:109367730 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2056-10A>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551733] Chr2:108753815 [GRCh38]
Chr2:109370271 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2625A>G (p.Val875=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545048] Chr2:108762123 [GRCh38]
Chr2:109378579 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.4530A>G (p.Leu1510=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545334]|not specified [RCV000611989] Chr2:108765069 [GRCh38]
Chr2:109381525 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547468] Chr2:108765538 [GRCh38]
Chr2:109381994 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526599] Chr2:108765635 [GRCh38]
Chr2:109382091 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3612C>T (p.Phe1204=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547182] Chr2:108764151 [GRCh38]
Chr2:109380607 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000547943] Chr2:108763536 [GRCh38]
Chr2:109379992 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000548086] Chr2:108736213 [GRCh38]
Chr2:109352669 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.739C>T (p.Leu247Phe) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542449] Chr2:108736206 [GRCh38]
Chr2:109352662 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008868] Chr2:108751993 [GRCh38]
Chr2:109368449 [GRCh37]
Chr2:2q13
pathogenic|risk factor|conflicting interpretations of pathogenicity
NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008869] Chr2:108753466 [GRCh38]
Chr2:109369922 [GRCh37]
Chr2:2q13
pathogenic|risk factor
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000008870] Chr2:108753474 [GRCh38]
Chr2:109369930 [GRCh37]
Chr2:2q13
pathogenic|risk factor
GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1 copy number loss See cases [RCV000051261] Chr2:108579001..109736559 [GRCh38]
Chr2:109195457..110494136 [GRCh37]
Chr2:108561889..109851425 [NCBI36]
Chr2:2q12.3-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053142]|See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
NM_144978.2(CCDC138):c.230C>T (p.Pro77Leu) single nucleotide variant Malignant melanoma [RCV000065015] Chr2:108788930 [GRCh38]
Chr2:109405386 [GRCh37]
Chr2:108771818 [NCBI36]
Chr2:2q13
not provided
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001085448]|not provided [RCV000514780] Chr2:108755053 [GRCh38]
Chr2:109371509 [GRCh37]
Chr2:2q13
benign|likely benign
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x3 copy number gain See cases [RCV000053142] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1 copy number loss See cases [RCV000134167] Chr2:107962353..109700179 [GRCh38]
Chr2:108578809..110457756 [GRCh37]
Chr2:107945241..109815045 [NCBI36]
Chr2:2q12.3-13
pathogenic|uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1 copy number loss See cases [RCV000135738] Chr2:108593876..109700179 [GRCh38]
Chr2:109210332..110457756 [GRCh37]
Chr2:108576764..109815045 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3 copy number gain See cases [RCV000136575] Chr2:108681906..109700179 [GRCh38]
Chr2:109298362..110457756 [GRCh37]
Chr2:108664794..109815045 [NCBI36]
Chr2:2q12.3-13
likely benign|uncertain significance
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1 copy number loss See cases [RCV000141950] Chr2:108660713..109735214 [GRCh38]
Chr2:109277169..110492791 [GRCh37]
Chr2:108643601..109850080 [NCBI36]
Chr2:2q12.3-13
uncertain significance
GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1 copy number loss See cases [RCV000142089] Chr2:108526866..109746741 [GRCh38]
Chr2:109143322..110504318 [GRCh37]
Chr2:108509754..109861607 [NCBI36]
Chr2:2q12.3-13
uncertain significance
NM_006267.5(RANBP2):c.73-6T>A single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001079953]|not provided [RCV000514181]|not specified [RCV000603997] Chr2:108729126 [GRCh38]
Chr2:109345582 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545865] Chr2:108764506 [GRCh38]
Chr2:109380962 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3161A>G (p.Gln1054Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000526008] Chr2:108763700 [GRCh38]
Chr2:109380156 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3 copy number gain not provided [RCV000762743] Chr2:109300532..110862536 [GRCh37]
Chr2:2q12.3-13
uncertain significance
NM_006267.5(RANBP2):c.627G>A (p.Gln209=) single nucleotide variant not provided [RCV000543255] Chr2:108735753 [GRCh38]
Chr2:109352209 [GRCh37]
Chr2:2q13
likely benign
GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1 copy number loss See cases [RCV000240053] Chr2:106423310..115054828 [GRCh37]
Chr2:2q12.2-14.1
pathogenic
NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000550452] Chr2:108767605 [GRCh38]
Chr2:109384061 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7760A>G (p.Gln2587Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530705] Chr2:108768299 [GRCh38]
Chr2:109384755 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9354A>G (p.Pro3118=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549696] Chr2:108782847 [GRCh38]
Chr2:109399303 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8334A>G (p.Val2778=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551514] Chr2:108775773 [GRCh38]
Chr2:109392229 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1172C>G (p.Ser391Cys) single nucleotide variant not provided [RCV000520852] Chr2:108749028 [GRCh38]
Chr2:109365484 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552535] Chr2:108764192 [GRCh38]
Chr2:109380648 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4972T>G (p.Phe1658Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646004]|not provided [RCV000489412] Chr2:108765511 [GRCh38]
Chr2:109381967 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000549183] Chr2:108767879 [GRCh38]
Chr2:109384335 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.7966A>G (p.Thr2656Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001078469]|not provided [RCV000489853] Chr2:108771817 [GRCh38]
Chr2:109388273 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006267.5(RANBP2):c.543G>A (p.Leu181=) single nucleotide variant not specified [RCV000606521] Chr2:108735669 [GRCh38]
Chr2:109352125 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.225C>G (p.Asn75Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527481] Chr2:108730858 [GRCh38]
Chr2:109347314 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.3461A>T (p.His1154Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000528138] Chr2:108764000 [GRCh38]
Chr2:109380456 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2142C>T (p.Thr714=) single nucleotide variant not provided [RCV000550565] Chr2:108753911 [GRCh38]
Chr2:109370367 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8599+16G>A single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000603361] Chr2:108777247 [GRCh38]
Chr2:109393703 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4826A>T (p.Gln1609Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000548563] Chr2:108765365 [GRCh38]
Chr2:109381821 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2410G>A (p.Ala804Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530505] Chr2:108755203 [GRCh38]
Chr2:109371659 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7982A>G (p.Lys2661Arg) single nucleotide variant not provided [RCV000522557] Chr2:108771833 [GRCh38]
Chr2:109388289 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529003] Chr2:108767711 [GRCh38]
Chr2:109384167 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2392A>G (p.Lys798Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552067] Chr2:108755185 [GRCh38]
Chr2:109371641 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5175A>G (p.Glu1725=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000613401] Chr2:108765714 [GRCh38]
Chr2:109382170 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000534076] Chr2:108765299 [GRCh38]
Chr2:109381755 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.5217C>T (p.Ala1739=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001085130]|not provided [RCV000842640] Chr2:108765756 [GRCh38]
Chr2:109382212 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.5561A>G (p.Asn1854Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539924] Chr2:108766100 [GRCh38]
Chr2:109382556 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4994_4996AGG[1] (p.Glu1666del) microsatellite Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000537269] Chr2:108765533..108765535 [GRCh38]
Chr2:109381989..109381991 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535126] Chr2:108765037 [GRCh38]
Chr2:109381493 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2182A>G (p.Asn728Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539001] Chr2:108753951 [GRCh38]
Chr2:109370407 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.911_913GTA[1] (p.Ser305del) microsatellite Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539747] Chr2:108740615..108740617 [GRCh38]
Chr2:109357071..109357073 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.432A>G (p.Glu144=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000560523] Chr2:108735558 [GRCh38]
Chr2:109352014 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2084A>C (p.Glu695Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535662] Chr2:108753853 [GRCh38]
Chr2:109370309 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.6856C>G (p.Gln2286Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535692] Chr2:108767395 [GRCh38]
Chr2:109383851 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3033G>A (p.Pro1011=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000558351]|not specified [RCV000609979] Chr2:108763572 [GRCh38]
Chr2:109380028 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.8461A>C (p.Thr2821Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536259] Chr2:108775900 [GRCh38]
Chr2:109392356 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.9405A>G (p.Gly3135=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000538420] Chr2:108783631 [GRCh38]
Chr2:109400087 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2383-3T>C single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000542012] Chr2:108755173 [GRCh38]
Chr2:109371629 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000445625] Chr2:108765788 [GRCh38]
Chr2:109382244 [GRCh37]
Chr2:2q13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108526025-110876776)x3 copy number gain See cases [RCV000446992] Chr2:108526025..110876776 [GRCh37]
Chr2:2q12.3-13
uncertain significance
NM_006267.5(RANBP2):c.-45C>T single nucleotide variant not specified [RCV000423758] Chr2:108719562 [GRCh38]
Chr2:109336018 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6349G>A (p.Ala2117Thr) single nucleotide variant not provided [RCV000423778] Chr2:108766888 [GRCh38]
Chr2:109383344 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.637-18G>A single nucleotide variant not specified [RCV000427156] Chr2:108736086 [GRCh38]
Chr2:109352542 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2955G>A (p.Pro985=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559712]|not specified [RCV000427190] Chr2:108763494 [GRCh38]
Chr2:109379950 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2559T>A (p.Asp853Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559917]|not specified [RCV000445101] Chr2:108758505 [GRCh38]
Chr2:109374961 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.8670C>T (p.Ala2890=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000551012]|not specified [RCV000417552] Chr2:108781339 [GRCh38]
Chr2:109397795 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2056-19A>G single nucleotide variant not specified [RCV000420924] Chr2:108753806 [GRCh38]
Chr2:109370262 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.7850-5T>A single nucleotide variant not provided [RCV000427418] Chr2:108771696 [GRCh38]
Chr2:109388152 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553569]|not specified [RCV000434550] Chr2:108755041 [GRCh38]
Chr2:109371497 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2173A>G (p.Ser725Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000528682]|not specified [RCV000417954] Chr2:108753942 [GRCh38]
Chr2:109370398 [GRCh37]
Chr2:2q13
benign|likely benign|uncertain significance
NM_006267.5(RANBP2):c.816G>C (p.Leu272Phe) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000558174]|not specified [RCV000417963] Chr2:108740522 [GRCh38]
Chr2:109356978 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2550A>G (p.Ser850=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646024]|not specified [RCV000418014] Chr2:108758496 [GRCh38]
Chr2:109374952 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529607]|not specified [RCV000427926] Chr2:108749065 [GRCh38]
Chr2:109365521 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535955]|not specified [RCV000431568] Chr2:108767148 [GRCh38]
Chr2:109383604 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1632-16T>C single nucleotide variant not specified [RCV000438656] Chr2:108751855 [GRCh38]
Chr2:109368311 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000445589]|not specified [RCV000419020] Chr2:108768038 [GRCh38]
Chr2:109384494 [GRCh37]
Chr2:2q13
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_006267.5(RANBP2):c.72+11C>G single nucleotide variant not specified [RCV000424792] Chr2:108719689 [GRCh38]
Chr2:109336145 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.5489A>G (p.His1830Arg) single nucleotide variant not specified [RCV000439072] Chr2:108766028 [GRCh38]
Chr2:109382484 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.-41G>T single nucleotide variant not specified [RCV000439089] Chr2:108719566 [GRCh38]
Chr2:109336022 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530818]|not specified [RCV000442777] Chr2:108764473 [GRCh38]
Chr2:109380929 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533259]|not specified [RCV000428797] Chr2:108766480 [GRCh38]
Chr2:109382936 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1456-7A>G single nucleotide variant not specified [RCV000435663] Chr2:108751521 [GRCh38]
Chr2:109367977 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.3597G>A (p.Ala1199=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000532455]|not specified [RCV000422066] Chr2:108764136 [GRCh38]
Chr2:109380592 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.8113+12G>A single nucleotide variant not specified [RCV000428994] Chr2:108772593 [GRCh38]
Chr2:109389049 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2520T>C (p.Arg840=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000545116]|not specified [RCV000436016] Chr2:108758466 [GRCh38]
Chr2:109374922 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.4443A>G (p.Gly1481=) single nucleotide variant not specified [RCV000419571] Chr2:108764982 [GRCh38]
Chr2:109381438 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.405+17T>G single nucleotide variant not specified [RCV000443418] Chr2:108731491 [GRCh38]
Chr2:109347947 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.7850-7G>C single nucleotide variant not specified [RCV000443433] Chr2:108771694 [GRCh38]
Chr2:109388150 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.560A>G (p.His187Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693103]|not provided [RCV000419803] Chr2:108735686 [GRCh38]
Chr2:109352142 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1274-14T>A single nucleotide variant not specified [RCV000422343] Chr2:108751250 [GRCh38]
Chr2:109367706 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000552434]|not specified [RCV000425988] Chr2:108768293 [GRCh38]
Chr2:109384749 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6643C>G (p.Pro2215Ala) single nucleotide variant not specified [RCV000429457] Chr2:108767182 [GRCh38]
Chr2:109383638 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1064-13A>T single nucleotide variant not specified [RCV000443547] Chr2:108748907 [GRCh38]
Chr2:109365363 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000537735]|not specified [RCV000443896] Chr2:108763521 [GRCh38]
Chr2:109379977 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.9369+4G>A single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000527967]|not specified [RCV000430083] Chr2:108782866 [GRCh38]
Chr2:109399322 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2330A>G (p.His777Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000538640]|not specified [RCV000440405] Chr2:108755032 [GRCh38]
Chr2:109371488 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000546469]|not specified [RCV000440460] Chr2:108767151 [GRCh38]
Chr2:109383607 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802922]|not provided [RCV000435639] Chr2:108751607 [GRCh38]
Chr2:109368063 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2562A>G (p.Gly854=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000530004]|not specified [RCV000440607] Chr2:108758508 [GRCh38]
Chr2:109374964 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2466+17C>T single nucleotide variant not specified [RCV000444332] Chr2:108755276 [GRCh38]
Chr2:109371732 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.9585C>T (p.Gly3195=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553195]|not specified [RCV000444408] Chr2:108783811 [GRCh38]
Chr2:109400267 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.783-6T>C single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001087843]|not provided [RCV000420242] Chr2:108740483 [GRCh38]
Chr2:109356939 [GRCh37]
Chr2:2q13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006267.5(RANBP2):c.8600-14G>T single nucleotide variant not specified [RCV000426800] Chr2:108781255 [GRCh38]
Chr2:109397711 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.3411A>C (p.Pro1137=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000554396]|not specified [RCV000437267] Chr2:108763950 [GRCh38]
Chr2:109380406 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.238G>A (p.Val80Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960742]|not specified [RCV000433920] Chr2:108730871 [GRCh38]
Chr2:109347327 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.7849+4A>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000529327]|not specified [RCV000437422] Chr2:108768392 [GRCh38]
Chr2:109384848 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001083701]|not provided [RCV000442260]|not specified [RCV000486351] Chr2:108775846 [GRCh38]
Chr2:109392302 [GRCh37]
Chr2:2q13
benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000477838]|not provided [RCV000513896] Chr2:108763765 [GRCh38]
Chr2:109380221 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006267.5(RANBP2):c.2977T>G (p.Ser993Ala) single nucleotide variant not provided [RCV000482620] Chr2:108763516 [GRCh38]
Chr2:109379972 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2502C>G (p.Asn834Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001080738]|not provided [RCV000498608] Chr2:108758448 [GRCh38]
Chr2:109374904 [GRCh37]
Chr2:2q13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006267.5(RANBP2):c.3125G>A (p.Gly1042Asp) single nucleotide variant not provided [RCV000492843] Chr2:108763664 [GRCh38]
Chr2:109380120 [GRCh37]
Chr2:2q13
likely pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3 copy number gain See cases [RCV000510943] Chr2:108534030..110492791 [GRCh37]
Chr2:2q12.3-13
uncertain significance
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000555719] Chr2:108748943 [GRCh38]
Chr2:109365399 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000556583] Chr2:108767152 [GRCh38]
Chr2:109383608 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.561C>T (p.His187=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646023] Chr2:108735687 [GRCh38]
Chr2:109352143 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.728T>C (p.Met243Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000534686]|not specified [RCV000602236] Chr2:108736195 [GRCh38]
Chr2:109352651 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.8916A>C (p.Leu2972=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000525025] Chr2:108782283 [GRCh38]
Chr2:109398739 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2056-4A>T single nucleotide variant not provided [RCV000557493] Chr2:108753821 [GRCh38]
Chr2:109370277 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1918-3del deletion Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557535] Chr2:108753421 [GRCh38]
Chr2:109369877 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539349] Chr2:108763902 [GRCh38]
Chr2:109380358 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646015] Chr2:108783829 [GRCh38]
Chr2:109400285 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss PARP Inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646030] Chr2:108768209 [GRCh38]
Chr2:109384665 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2943C>T (p.Phe981=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646031] Chr2:108763482 [GRCh38]
Chr2:109379938 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646020] Chr2:108768013 [GRCh38]
Chr2:109384469 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1776T>C (p.Phe592=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646018] Chr2:108753018 [GRCh38]
Chr2:109369474 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8491A>T (p.Ser2831Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646016] Chr2:108775930 [GRCh38]
Chr2:109392386 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7911A>T (p.Glu2637Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646011] Chr2:108771762 [GRCh38]
Chr2:109388218 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5983G>A (p.Asp1995Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646010] Chr2:108766522 [GRCh38]
Chr2:109382978 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646009] Chr2:108751388 [GRCh38]
Chr2:109367844 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646008] Chr2:108764981 [GRCh38]
Chr2:109381437 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.967G>C (p.Ala323Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646007] Chr2:108740673 [GRCh38]
Chr2:109357129 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646003] Chr2:108753933 [GRCh38]
Chr2:109370389 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109301074-110482930) copy number loss not provided [RCV000767554] Chr2:109301074..110482930 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
NM_006267.5(RANBP2):c.1632-10_1632-1delinsAATTTTTAT indel Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000559030] Chr2:108751861..108751870 [GRCh38]
Chr2:109368317..109368326 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3035G>T (p.Gly1012Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536673] Chr2:108763574 [GRCh38]
Chr2:109380030 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7805C>T (p.Thr2602Met) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000540574] Chr2:108768344 [GRCh38]
Chr2:109384800 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5394C>T (p.Ser1798=) single nucleotide variant not specified [RCV000606225] Chr2:108765933 [GRCh38]
Chr2:109382389 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.5307G>A (p.Lys1769=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000556266]|not specified [RCV000602379] Chr2:108765846 [GRCh38]
Chr2:109382302 [GRCh37]
Chr2:2q13
benign|likely benign
Single allele duplication Neuronopathy, distal hereditary motor, type viia [RCV000534213] Chr2:107988136..108963283 [GRCh38]
Chr2:2q12.3-13
uncertain significance
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001084294]|not provided [RCV000514609] Chr2:108768290 [GRCh38]
Chr2:109384746 [GRCh37]
Chr2:2q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000553897] Chr2:108764121 [GRCh38]
Chr2:109380577 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9369+20T>C single nucleotide variant not specified [RCV000607756] Chr2:108782882 [GRCh38]
Chr2:109399338 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8075G>A (p.Gly2692Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000533410] Chr2:108772543 [GRCh38]
Chr2:109388999 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.3162_3163delinsTT (p.Gln1054_Pro1055delinsHisSer) indel Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000541006] Chr2:108763701..108763702 [GRCh38]
Chr2:109380157..109380158 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.4726A>T (p.Thr1576Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000560329]|not specified [RCV000616977] Chr2:108765265 [GRCh38]
Chr2:109381721 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000890560]|not specified [RCV000607627] Chr2:108768002 [GRCh38]
Chr2:109384458 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7850-15dup duplication not specified [RCV000608297] Chr2:108771679..108771680 [GRCh38]
Chr2:109388135..109388136 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6461C>G (p.Pro2154Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000557647] Chr2:108767000 [GRCh38]
Chr2:109383456 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000535989]|not specified [RCV000609540] Chr2:108753428 [GRCh38]
Chr2:109369884 [GRCh37]
Chr2:2q13
benign|likely benign
NM_006267.5(RANBP2):c.8253= (p.Glu2751=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000536483] Chr2:108773007 [GRCh38]
Chr2:109389463 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.3501T>C (p.Asp1167=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000539136] Chr2:108764040 [GRCh38]
Chr2:109380496 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.8188A>C (p.Lys2730Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000655954] Chr2:108772942 [GRCh38]
Chr2:109389398 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4239A>G (p.Pro1413=) single nucleotide variant not specified [RCV000601379] Chr2:108764778 [GRCh38]
Chr2:109381234 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4317G>C (p.Gln1439His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645995] Chr2:108764856 [GRCh38]
Chr2:109381312 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1270G>A (p.Val424Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645996] Chr2:108749126 [GRCh38]
Chr2:109365582 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2904G>C (p.Gln968His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645997] Chr2:108763443 [GRCh38]
Chr2:109379899 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2894A>G (p.Asn965Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645998] Chr2:108763433 [GRCh38]
Chr2:109379889 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000645999] Chr2:108768236 [GRCh38]
Chr2:109384692 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2129A>C (p.Tyr710Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646000] Chr2:108753898 [GRCh38]
Chr2:109370354 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6342T>C (p.Asp2114=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646025] Chr2:108766881 [GRCh38]
Chr2:109383337 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8671G>A (p.Gly2891Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646026] Chr2:108781340 [GRCh38]
Chr2:109397796 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646027] Chr2:108755198 [GRCh38]
Chr2:109371654 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.4752T>C (p.Phe1584=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646028] Chr2:108765291 [GRCh38]
Chr2:109381747 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.3351G>A (p.Ser1117=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646029] Chr2:108763890 [GRCh38]
Chr2:109380346 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7602A>G (p.Ala2534=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646022] Chr2:108768141 [GRCh38]
Chr2:109384597 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4707G>A (p.Pro1569=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646021] Chr2:108765246 [GRCh38]
Chr2:109381702 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.5979C>T (p.Ser1993=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646019] Chr2:108766518 [GRCh38]
Chr2:109382974 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646017] Chr2:108735652 [GRCh38]
Chr2:109352108 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8621A>G (p.Asn2874Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646014] Chr2:108781290 [GRCh38]
Chr2:109397746 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1787G>A (p.Arg596Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646013] Chr2:108753029 [GRCh38]
Chr2:109369485 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646012] Chr2:108753916 [GRCh38]
Chr2:109370372 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1478A>C (p.Tyr493Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646006] Chr2:108751550 [GRCh38]
Chr2:109368006 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3860C>T (p.Thr1287Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646005] Chr2:108764399 [GRCh38]
Chr2:109380855 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646002] Chr2:108736182 [GRCh38]
Chr2:109352638 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2603-3T>C single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000646001] Chr2:108762098 [GRCh38]
Chr2:109378554 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1 copy number loss not provided [RCV000682122] Chr2:109295035..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3 copy number gain not provided [RCV000682142] Chr2:108501887..110504318 [GRCh37]
Chr2:2q12.3-13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1 copy number loss not provided [RCV000682152] Chr2:107020782..111365996 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
Single allele duplication not provided [RCV000678012] Chr2:107096423..112235727 [GRCh37]
Chr2:2q12.2-13
likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
NM_006267.5(RANBP2):c.1918-1G>A single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685431] Chr2:108753425 [GRCh38]
Chr2:109369881 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6272C>T (p.Thr2091Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685444] Chr2:108766811 [GRCh38]
Chr2:109383267 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8411G>T (p.Ser2804Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707252] Chr2:108775850 [GRCh38]
Chr2:109392306 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000694990] Chr2:108767383 [GRCh38]
Chr2:109383839 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4139C>G (p.Pro1380Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000702073] Chr2:108764678 [GRCh38]
Chr2:109381134 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7933A>C (p.Lys2645Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707380] Chr2:108771784 [GRCh38]
Chr2:109388240 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2469A>G (p.Lys823=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000707390] Chr2:108758415 [GRCh38]
Chr2:109374871 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000691111] Chr2:108749072 [GRCh38]
Chr2:109365528 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8729T>C (p.Ile2910Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693812] Chr2:108781398 [GRCh38]
Chr2:109397854 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1252G>T (p.Asp418Tyr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000691214] Chr2:108749108 [GRCh38]
Chr2:109365564 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4177A>G (p.Thr1393Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000685130] Chr2:108764716 [GRCh38]
Chr2:109381172 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_108719587)_(108963283_?)del deletion Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000708268] Chr2:108719587..108963283 [GRCh38]
Chr2:109336043..109579739 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.873G>A (p.Met291Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000692579] Chr2:108740579 [GRCh38]
Chr2:109357035 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3129C>G (p.Asp1043Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000689722] Chr2:108763668 [GRCh38]
Chr2:109380124 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5929A>G (p.Lys1977Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000697531] Chr2:108766468 [GRCh38]
Chr2:109382924 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3376C>T (p.Arg1126Trp) single nucleotide variant not provided [RCV000701823] Chr2:108763915 [GRCh38]
Chr2:109380371 [GRCh37]
Chr2:2q13
likely benign|uncertain significance
NM_006267.5(RANBP2):c.2188T>G (p.Ser730Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000703979] Chr2:108753957 [GRCh38]
Chr2:109370413 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2369G>A (p.Ser790Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000692764] Chr2:108755071 [GRCh38]
Chr2:109371527 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000706958] Chr2:108766970 [GRCh38]
Chr2:109383426 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4042G>A (p.Val1348Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693206] Chr2:108764581 [GRCh38]
Chr2:109381037 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8484T>A (p.Asp2828Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000693324] Chr2:108775923 [GRCh38]
Chr2:109392379 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.929G>A (p.Arg310Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000702692] Chr2:108740635 [GRCh38]
Chr2:109357091 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000704892] Chr2:108763549 [GRCh38]
Chr2:109380005 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9253T>C (p.Phe3085Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000696731] Chr2:108782746 [GRCh38]
Chr2:109399202 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9035A>C (p.Asp3012Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000697015] Chr2:108782528 [GRCh38]
Chr2:109398984 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9215C>T (p.Ala3072Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000703691] Chr2:108782708 [GRCh38]
Chr2:109399164 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.3(chr2:109392302-109492622)x3 copy number gain not provided [RCV000753078] Chr2:109392302..109492622 [GRCh37]
Chr2:2q12.3
benign
NC_000002.11:g.(?_109367964)_(109579739_?)dup duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000814613] Chr2:108751508..108963283 [GRCh38]
Chr2:109367964..109579739 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_006267.5(RANBP2):c.5950G>A (p.Gly1984Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000916090] Chr2:108766489 [GRCh38]
Chr2:109382945 [GRCh37]
Chr2:2q13
likely benign
NC_000002.12:g.(?_108729112)_(108963283_?)dup duplication Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001032251] Chr2:109345568..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1 copy number loss not provided [RCV001005304] Chr2:108499809..110504318 [GRCh37]
Chr2:2q12.3-13
likely pathogenic
NM_006267.5(RANBP2):c.4220G>A (p.Arg1407Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001045698] Chr2:108764759 [GRCh38]
Chr2:109381215 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2066G>A (p.Arg689Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001066901] Chr2:108753835 [GRCh38]
Chr2:109370291 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5092A>G (p.Thr1698Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001045242] Chr2:108765631 [GRCh38]
Chr2:109382087 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3170C>T (p.Pro1057Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001046512] Chr2:108763709 [GRCh38]
Chr2:109380165 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5367T>G (p.Val1789=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000973849] Chr2:108765906 [GRCh38]
Chr2:109382362 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.4161C>T (p.Gly1387=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000921516] Chr2:108764700 [GRCh38]
Chr2:109381156 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1770T>C (p.Asn590=) single nucleotide variant not provided [RCV000944926] Chr2:108753012 [GRCh38]
Chr2:109369468 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8589T>C (p.Phe2863=) single nucleotide variant not provided [RCV000906125] Chr2:108777221 [GRCh38]
Chr2:109393677 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4534G>T (p.Ala1512Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000972868] Chr2:108765073 [GRCh38]
Chr2:109381529 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7464A>G (p.Val2488=) single nucleotide variant not provided [RCV000958400] Chr2:108768003 [GRCh38]
Chr2:109384459 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6680A>G (p.Tyr2227Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000950573] Chr2:108767219 [GRCh38]
Chr2:109383675 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.468A>G (p.Ser156=) single nucleotide variant not provided [RCV000943359] Chr2:108735594 [GRCh38]
Chr2:109352050 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.9369+8T>C single nucleotide variant not provided [RCV000945538] Chr2:108782870 [GRCh38]
Chr2:109399326 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.288T>G (p.Leu96=) single nucleotide variant not provided [RCV000902827] Chr2:108731357 [GRCh38]
Chr2:109347813 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8761-4A>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000950892] Chr2:108782124 [GRCh38]
Chr2:109398580 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1361G>A (p.Arg454Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000880561] Chr2:108751351 [GRCh38]
Chr2:109367807 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2212C>T (p.Pro738Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000878448] Chr2:108754914 [GRCh38]
Chr2:109371370 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000878356] Chr2:108763889 [GRCh38]
Chr2:109380345 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4791C>T (p.Ser1597=) single nucleotide variant not provided [RCV000950314] Chr2:108765330 [GRCh38]
Chr2:109381786 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2268T>C (p.Tyr756=) single nucleotide variant not provided [RCV000903262] Chr2:108754970 [GRCh38]
Chr2:109371426 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.834G>A (p.Leu278=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000882250] Chr2:108740540 [GRCh38]
Chr2:109356996 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1133A>G (p.Asn378Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001040509] Chr2:108748989 [GRCh38]
Chr2:109365445 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4162C>T (p.Pro1388Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001061430] Chr2:108764701 [GRCh38]
Chr2:109381157 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8254G>C (p.Asp2752His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001055249] Chr2:108773008 [GRCh38]
Chr2:109389464 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1117G>C (p.Val373Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001062502] Chr2:108748973 [GRCh38]
Chr2:109365429 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2852C>T (p.Thr951Met) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001061864] Chr2:108763391 [GRCh38]
Chr2:109379847 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2834G>A (p.Arg945His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001058938] Chr2:108763373 [GRCh38]
Chr2:109379829 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4084T>C (p.Ser1362Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001039396] Chr2:108764623 [GRCh38]
Chr2:109381079 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001053765] Chr2:108768329 [GRCh38]
Chr2:109384785 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6499A>G (p.Ile2167Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001042327] Chr2:108767038 [GRCh38]
Chr2:109383494 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1231G>A (p.Val411Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001059201] Chr2:108749087 [GRCh38]
Chr2:109365543 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5798G>A (p.Gly1933Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060233] Chr2:108766337 [GRCh38]
Chr2:109382793 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9604A>G (p.Ile3202Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001040419] Chr2:108783830 [GRCh38]
Chr2:109400286 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000792717] Chr2:108765749 [GRCh38]
Chr2:109382205 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8497+8_8497+10del deletion Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000978783] Chr2:108775944..108775946 [GRCh38]
Chr2:109392400..109392402 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.342A>T (p.Ala114=) single nucleotide variant not provided [RCV000969816] Chr2:108731411 [GRCh38]
Chr2:109347867 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6612C>T (p.Ala2204=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000933069] Chr2:108767151 [GRCh38]
Chr2:109383607 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.7863A>G (p.Lys2621=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000942865] Chr2:108771714 [GRCh38]
Chr2:109388170 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1108A>G (p.Lys370Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000945998] Chr2:108748964 [GRCh38]
Chr2:109365420 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6792A>C (p.Thr2264=) single nucleotide variant not provided [RCV000907177] Chr2:108767331 [GRCh38]
Chr2:109383787 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6270G>A (p.Thr2090=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000945761] Chr2:108766809 [GRCh38]
Chr2:109383265 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.9243T>C (p.Thr3081=) single nucleotide variant not provided [RCV000940670] Chr2:108782736 [GRCh38]
Chr2:109399192 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=) single nucleotide variant not provided [RCV000960761] Chr2:108782226 [GRCh38]
Chr2:109398682 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6312A>G (p.Ala2104=) single nucleotide variant not provided [RCV000942647] Chr2:108766851 [GRCh38]
Chr2:109383307 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7827C>T (p.Tyr2609=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000895934] Chr2:108768366 [GRCh38]
Chr2:109384822 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2230G>C (p.Glu744Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000946104] Chr2:108754932 [GRCh38]
Chr2:109371388 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2340G>A (p.Pro780=) single nucleotide variant not provided [RCV000951644] Chr2:108755042 [GRCh38]
Chr2:109371498 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2148C>T (p.Asp716=) single nucleotide variant not provided [RCV000932213] Chr2:108753917 [GRCh38]
Chr2:109370373 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6663A>G (p.Thr2221=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000945382] Chr2:108767202 [GRCh38]
Chr2:109383658 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6857A>G (p.Gln2286Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804380] Chr2:108767396 [GRCh38]
Chr2:109383852 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5040C>T (p.Ala1680=) single nucleotide variant not provided [RCV000916089] Chr2:108765579 [GRCh38]
Chr2:109382035 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8125G>A (p.Glu2709Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960430] Chr2:108772879 [GRCh38]
Chr2:109389335 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.-50C>T single nucleotide variant not provided [RCV000830857] Chr2:108719557 [GRCh38]
Chr2:109336013 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.20A>C (p.Asp7Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000793251] Chr2:108719626 [GRCh38]
Chr2:109336082 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817400] Chr2:108764755 [GRCh38]
Chr2:109381211 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960107] Chr2:108763701 [GRCh38]
Chr2:109380157 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.7844A>G (p.Glu2615Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817712] Chr2:108768383 [GRCh38]
Chr2:109384839 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804895] Chr2:108768052 [GRCh38]
Chr2:109384508 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804952] Chr2:108765895 [GRCh38]
Chr2:109382351 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000795329] Chr2:108736238 [GRCh38]
Chr2:109352694 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000800269] Chr2:108782785 [GRCh38]
Chr2:109399241 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7617A>T (p.Ser2539=) single nucleotide variant not provided [RCV000836806] Chr2:108768156 [GRCh38]
Chr2:109384612 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000791886] Chr2:108763534 [GRCh38]
Chr2:109379990 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000805729] Chr2:108753465 [GRCh38]
Chr2:109369921 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.520G>T (p.Val174Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000815409] Chr2:108735646 [GRCh38]
Chr2:109352102 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000804150] Chr2:108746778 [GRCh38]
Chr2:109363234 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817201] Chr2:108765515 [GRCh38]
Chr2:109381971 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000799311] Chr2:108763926 [GRCh38]
Chr2:109380382 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000796232] Chr2:108766535 [GRCh38]
Chr2:109382991 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000816203] Chr2:108731366 [GRCh38]
Chr2:109347822 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000822768] Chr2:108763919 [GRCh38]
Chr2:109380375 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000800155] Chr2:108782713 [GRCh38]
Chr2:109399169 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817087] Chr2:108764008 [GRCh38]
Chr2:109380464 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000817240] Chr2:108765053 [GRCh38]
Chr2:109381509 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000823404] Chr2:108765728 [GRCh38]
Chr2:109382184 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3273A>T (p.Gln1091His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000824491] Chr2:108763812 [GRCh38]
Chr2:109380268 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000805597] Chr2:108729132 [GRCh38]
Chr2:109345588 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4332T>C (p.Ala1444=) single nucleotide variant not provided [RCV000997189] Chr2:108764871 [GRCh38]
Chr2:109381327 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4830G>C (p.Trp1610Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001044945] Chr2:108765369 [GRCh38]
Chr2:109381825 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2314G>C (p.Asp772His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000812232] Chr2:108755016 [GRCh38]
Chr2:109371472 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000809133] Chr2:108765047 [GRCh38]
Chr2:109381503 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000794786] Chr2:108736169 [GRCh38]
Chr2:109352625 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.11:g.(?_109336043)_(109579739_?)dup duplication Autosomal recessive hypohidrotic ectodermal dysplasia syndrome [RCV000811356] Chr2:108719587..108963283 [GRCh38]
Chr2:109336043..109579739 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000814675] Chr2:108751273 [GRCh38]
Chr2:109367729 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802327] Chr2:108765862 [GRCh38]
Chr2:109382318 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6592G>T (p.Gly2198Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802465] Chr2:108767131 [GRCh38]
Chr2:109383587 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000822231] Chr2:108766655 [GRCh38]
Chr2:109383111 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5871A>G (p.Glu1957=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000939027] Chr2:108766410 [GRCh38]
Chr2:109382866 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813056] Chr2:108767420 [GRCh38]
Chr2:109383876 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000802556] Chr2:108767527 [GRCh38]
Chr2:109383983 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000794332] Chr2:108768229 [GRCh38]
Chr2:109384685 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000960108] Chr2:108763702 [GRCh38]
Chr2:109380158 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813584] Chr2:108751673 [GRCh38]
Chr2:109368129 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000813897] Chr2:108735593 [GRCh38]
Chr2:109352049 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9038G>A (p.Gly3013Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001043100] Chr2:108782531 [GRCh38]
Chr2:109398987 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.593G>A (p.Arg198His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001044348] Chr2:108735719 [GRCh38]
Chr2:109352175 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2296G>C (p.Gly766Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001042548]|not provided [RCV000997188] Chr2:108754998 [GRCh38]
Chr2:109371454 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2275G>A (p.Gly759Arg) single nucleotide variant not provided [RCV000997187] Chr2:108754977 [GRCh38]
Chr2:109371433 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9402C>T (p.Gly3134=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001066701] Chr2:108783628 [GRCh38]
Chr2:109400084 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2797A>T (p.Met933Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001066949] Chr2:108763336 [GRCh38]
Chr2:109379792 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1765C>G (p.Leu589Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208249] Chr2:108753007 [GRCh38]
Chr2:109369463 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3028A>C (p.Met1010Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001236930] Chr2:108763567 [GRCh38]
Chr2:109380023 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.974A>G (p.Gln325Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001214075] Chr2:108740680 [GRCh38]
Chr2:109357136 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7372A>C (p.Thr2458Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001222537] Chr2:108767911 [GRCh38]
Chr2:109384367 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3287G>A (p.Arg1096Gln) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001239666] Chr2:108763826 [GRCh38]
Chr2:109380282 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7309G>A (p.Asp2437Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001223253] Chr2:108767848 [GRCh38]
Chr2:109384304 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5416G>A (p.Ala1806Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001237845] Chr2:108765955 [GRCh38]
Chr2:109382411 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9503A>G (p.Asn3168Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001226943] Chr2:108783729 [GRCh38]
Chr2:109400185 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3944C>T (p.Ala1315Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001206914] Chr2:108764483 [GRCh38]
Chr2:109380939 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.745A>G (p.Thr249Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001238132] Chr2:108736212 [GRCh38]
Chr2:109352668 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6893A>T (p.Asp2298Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001210174] Chr2:108767432 [GRCh38]
Chr2:109383888 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6782G>A (p.Gly2261Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001210177] Chr2:108767321 [GRCh38]
Chr2:109383777 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5066A>G (p.Gln1689Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001203799] Chr2:108765605 [GRCh38]
Chr2:109382061 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.9158C>T (p.Ser3053Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001225485] Chr2:108782651 [GRCh38]
Chr2:109399107 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1190A>G (p.Asp397Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001225974] Chr2:108749046 [GRCh38]
Chr2:109365502 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3689T>G (p.Ile1230Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001226017] Chr2:108764228 [GRCh38]
Chr2:109380684 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4918T>A (p.Ser1640Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001222050] Chr2:108765457 [GRCh38]
Chr2:109381913 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8423T>C (p.Val2808Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001224728] Chr2:108775862 [GRCh38]
Chr2:109392318 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7756G>A (p.Glu2586Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001219047] Chr2:108768295 [GRCh38]
Chr2:109384751 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6025G>A (p.Asp2009Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212814] Chr2:108766564 [GRCh38]
Chr2:109383020 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3060A>G (p.Pro1020=) single nucleotide variant not provided [RCV000978150] Chr2:108763599 [GRCh38]
Chr2:109380055 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2203-8A>G single nucleotide variant not provided [RCV000936605] Chr2:108754897 [GRCh38]
Chr2:109371353 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.3955G>C (p.Ala1319Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000952191] Chr2:108764494 [GRCh38]
Chr2:109380950 [GRCh37]
Chr2:2q13
benign
NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000983806] Chr2:108766637 [GRCh38]
Chr2:109383093 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.4207A>G (p.Asn1403Asp) single nucleotide variant not provided [RCV000900467] Chr2:108764746 [GRCh38]
Chr2:109381202 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2862A>G (p.Leu954=) single nucleotide variant not provided [RCV000929751] Chr2:108763401 [GRCh38]
Chr2:109379857 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.5825G>T (p.Ser1942Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000952355] Chr2:108766364 [GRCh38]
Chr2:109382820 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.324T>C (p.Asp108=) single nucleotide variant not provided [RCV000954656] Chr2:108731393 [GRCh38]
Chr2:109347849 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2244A>G (p.Ser748=) single nucleotide variant not provided [RCV000976121] Chr2:108754946 [GRCh38]
Chr2:109371402 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7039G>C (p.Gly2347Arg) single nucleotide variant not provided [RCV000946112] Chr2:108767578 [GRCh38]
Chr2:109384034 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.7293G>T (p.Ser2431=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000946154] Chr2:108767832 [GRCh38]
Chr2:109384288 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8021-7T>C single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000982917] Chr2:108772482 [GRCh38]
Chr2:109388938 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.6120A>G (p.Val2040=) single nucleotide variant not provided [RCV000960777] Chr2:108766659 [GRCh38]
Chr2:109383115 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.2379C>T (p.Tyr793=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000981549] Chr2:108755081 [GRCh38]
Chr2:109371537 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8385A>G (p.Glu2795=) single nucleotide variant not provided [RCV000920558] Chr2:108775824 [GRCh38]
Chr2:109392280 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.951A>G (p.Ala317=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000895933] Chr2:108740657 [GRCh38]
Chr2:109357113 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.1225A>G (p.Ile409Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000895327] Chr2:108749081 [GRCh38]
Chr2:109365537 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.9408G>A (p.Gln3136=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV000981844] Chr2:108783634 [GRCh38]
Chr2:109400090 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.5800C>T (p.Arg1934Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001046539] Chr2:108766339 [GRCh38]
Chr2:109382795 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7364G>T (p.Arg2455Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001068371] Chr2:108767903 [GRCh38]
Chr2:109384359 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2038T>C (p.Tyr680His) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001214074] Chr2:108753546 [GRCh38]
Chr2:109370002 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4400C>T (p.Pro1467Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001218562] Chr2:108764939 [GRCh38]
Chr2:109381395 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.931G>A (p.Ala311Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208279] Chr2:108740637 [GRCh38]
Chr2:109357093 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3484C>T (p.His1162Tyr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208998] Chr2:108764023 [GRCh38]
Chr2:109380479 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5298G>T (p.Glu1766Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001208999] Chr2:108765837 [GRCh38]
Chr2:109382293 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001220553] Chr2:108768164 [GRCh38]
Chr2:109384620 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4949C>T (p.Thr1650Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001224899] Chr2:108765488 [GRCh38]
Chr2:109381944 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1756G>T (p.Gly586Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001196450] Chr2:108752998 [GRCh38]
Chr2:109369454 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7974C>G (p.Phe2658Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001217754] Chr2:108771825 [GRCh38]
Chr2:109388281 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.151A>G (p.Thr51Ala) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001241363] Chr2:108730784 [GRCh38]
Chr2:109347240 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.507C>G (p.Ile169Met) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001244063] Chr2:108735633 [GRCh38]
Chr2:109352089 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5579A>C (p.Lys1860Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212060] Chr2:108766118 [GRCh38]
Chr2:109382574 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8415A>G (p.Ser2805=) single nucleotide variant not provided [RCV000935685] Chr2:108775854 [GRCh38]
Chr2:109392310 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.5093C>T (p.Thr1698Ile) single nucleotide variant not provided [RCV000997190] Chr2:108765632 [GRCh38]
Chr2:109382088 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8262A>G (p.Gln2754=) single nucleotide variant not provided [RCV000913693] Chr2:108773016 [GRCh38]
Chr2:109389472 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8700T>C (p.Ser2900=) single nucleotide variant not provided [RCV000934734] Chr2:108781369 [GRCh38]
Chr2:109397825 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.8020+7C>T single nucleotide variant not provided [RCV000935220] Chr2:108771878 [GRCh38]
Chr2:109388334 [GRCh37]
Chr2:2q13
likely benign
NM_006267.5(RANBP2):c.970T>C (p.Phe324Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001043830] Chr2:108740676 [GRCh38]
Chr2:109357132 [GRCh37]
Chr2:2q13
uncertain significance
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) single nucleotide variant Hypohidrotic ectodermal dysplasia [RCV001134063]|not provided [RCV000143983] Chr2:108929347 [GRCh38]
Chr2:109545803 [GRCh37]
Chr2:2q13
benign|likely benign|not provided
NM_006267.5(RANBP2):c.3220A>G (p.Lys1074Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001071674] Chr2:108763759 [GRCh38]
Chr2:109380215 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3384T>G (p.Ser1128Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001068306] Chr2:108763923 [GRCh38]
Chr2:109380379 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6439T>G (p.Leu2147Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001069070] Chr2:108766978 [GRCh38]
Chr2:109383434 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_107988146)_(108963283_?)del deletion Neuronopathy, distal hereditary motor, type viia [RCV001031168] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_006267.5(RANBP2):c.8599+3A>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001211543] Chr2:108777234 [GRCh38]
Chr2:109393690 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5251A>G (p.Ser1751Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001215743] Chr2:108765790 [GRCh38]
Chr2:109382246 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.80T>C (p.Met27Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212424] Chr2:108729139 [GRCh38]
Chr2:109345595 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6605G>A (p.Gly2202Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001235722] Chr2:108767144 [GRCh38]
Chr2:109383600 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8438T>C (p.Met2813Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001215855] Chr2:108775877 [GRCh38]
Chr2:109392333 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6323T>C (p.Leu2108Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001233322] Chr2:108766862 [GRCh38]
Chr2:109383318 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.917A>G (p.Asn306Ser) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001212102] Chr2:108740623 [GRCh38]
Chr2:109357079 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1961T>A (p.Phe654Tyr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001217485] Chr2:108753469 [GRCh38]
Chr2:109369925 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2198A>G (p.Lys733Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060386] Chr2:108753967 [GRCh38]
Chr2:109370423 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2267A>G (p.Tyr756Cys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001233477] Chr2:108754969 [GRCh38]
Chr2:109371425 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2241T>G (p.Asn747Lys) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060652] Chr2:108754943 [GRCh38]
Chr2:109371399 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6275C>T (p.Thr2092Met) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001060674] Chr2:108766814 [GRCh38]
Chr2:109383270 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7471G>C (p.Ala2491Pro) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001036183] Chr2:108768010 [GRCh38]
Chr2:109384466 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5180A>G (p.Gln1727Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001050767] Chr2:108765719 [GRCh38]
Chr2:109382175 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5675C>T (p.Pro1892Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001042652] Chr2:108766214 [GRCh38]
Chr2:109382670 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7892A>T (p.Asp2631Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001061303] Chr2:108771743 [GRCh38]
Chr2:109388199 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.6150T>G (p.Ser2050Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001247980] Chr2:108766689 [GRCh38]
Chr2:109383145 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4206G>C (p.Glu1402Asp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001057765] Chr2:108764745 [GRCh38]
Chr2:109381201 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.542T>G (p.Leu181Trp) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001205453] Chr2:108735668 [GRCh38]
Chr2:109352124 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7191G>T (p.Gly2397=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001051024] Chr2:108767730 [GRCh38]
Chr2:109384186 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7943C>T (p.Ala2648Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001057822] Chr2:108771794 [GRCh38]
Chr2:109388250 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1213G>A (p.Asp405Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001058241] Chr2:108749069 [GRCh38]
Chr2:109365525 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.3754A>T (p.Met1252Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001204780] Chr2:108764293 [GRCh38]
Chr2:109380749 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4183T>C (p.Phe1395Leu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001217308] Chr2:108764722 [GRCh38]
Chr2:109381178 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7125C>A (p.Asp2375Glu) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001235063] Chr2:108767664 [GRCh38]
Chr2:109384120 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_107988146)_(108963283_?)dup duplication Neuronopathy, distal hereditary motor, type viia [RCV001033739] Chr2:108604602..109579739 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_006267.5(RANBP2):c.3908G>C (p.Ser1303Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001233640] Chr2:108764447 [GRCh38]
Chr2:109380903 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8360T>G (p.Val2787Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001232833] Chr2:108775799 [GRCh38]
Chr2:109392255 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.1063+3A>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001049566] Chr2:108746801 [GRCh38]
Chr2:109363257 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4294G>A (p.Val1432Ile) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001229685] Chr2:108764833 [GRCh38]
Chr2:109381289 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.4403T>C (p.Ile1468Thr) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001230335] Chr2:108764942 [GRCh38]
Chr2:109381398 [GRCh37]
Chr2:2q13
uncertain significance
NC_000002.12:g.(?_108719587)_(108740701_?)del deletion Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001033268] Chr2:109336043..109357157 [GRCh37]
Chr2:2q12.3
uncertain significance
NM_006267.5(RANBP2):c.4789A>G (p.Ser1597Gly) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001070048] Chr2:108765328 [GRCh38]
Chr2:109381784 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.8190A>C (p.Lys2730Asn) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001204135] Chr2:108772944 [GRCh38]
Chr2:109389400 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.7207T>G (p.Leu2403Val) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001057156] Chr2:108767746 [GRCh38]
Chr2:109384202 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.2056-9T>G single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001063251] Chr2:108753816 [GRCh38]
Chr2:109370272 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.5295G>A (p.Ser1765=) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001231063] Chr2:108765834 [GRCh38]
Chr2:109382290 [GRCh37]
Chr2:2q13
uncertain significance
NM_006267.5(RANBP2):c.83A>G (p.Lys28Arg) single nucleotide variant Encephalopathy, acute, infection-induced, 3, suceptibility to [RCV001203400] Chr2:108729142 [GRCh38]
Chr2:109345598 [GRCh37]
Chr2:2q13
uncertain significance
GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1 copy number loss not provided [RCV001259645] Chr2:107029680..113187742 [GRCh37]
Chr2:2q12.2-13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9848 AgrOrtholog
COSMIC RANBP2 COSMIC
Ensembl Genes ENSG00000153201 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000283195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398970 UniProtKB/TrEMBL
  ENSP00000485979 UniProtKB/TrEMBL
Ensembl Transcript ENST00000283195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425282 UniProtKB/TrEMBL
  ENST00000629728 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot
  2.40.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000153201 GTEx
HGNC ID HGNC:9848 ENTREZGENE
Human Proteome Map RANBP2 Human Proteome Map
InterPro Cyclophilin-like_dom_sf UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_CS UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_dom UniProtKB/Swiss-Prot
  IR1-M UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  Ran_bind_dom UniProtKB/Swiss-Prot
  TPR-contain_dom UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot
  Znf_RanBP2 UniProtKB/Swiss-Prot
  Znf_RanBP2_sf UniProtKB/Swiss-Prot
KEGG Report hsa:5903 UniProtKB/Swiss-Prot
NCBI Gene 5903 ENTREZGENE
OMIM 601181 OMIM
  608033 OMIM
Pfam IR1-M UniProtKB/Swiss-Prot
  Pro_isomerase UniProtKB/Swiss-Prot
  Ran_BP1 UniProtKB/Swiss-Prot
  zf-RanBP UniProtKB/Swiss-Prot
PharmGKB PA34209 PharmGKB
PRINTS CSAPPISMRASE UniProtKB/Swiss-Prot
PROSITE CSA_PPIASE_1 UniProtKB/Swiss-Prot
  CSA_PPIASE_2 UniProtKB/Swiss-Prot
  RANBD1 UniProtKB/Swiss-Prot
  TPR UniProtKB/Swiss-Prot
  TPR_REGION UniProtKB/Swiss-Prot
  ZF_RANBP2_1 UniProtKB/Swiss-Prot
  ZF_RANBP2_2 UniProtKB/Swiss-Prot
SMART RanBD UniProtKB/Swiss-Prot
  TPR UniProtKB/Swiss-Prot
  ZnF_RBZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
  SSF50891 UniProtKB/Swiss-Prot
  SSF90209 UniProtKB/Swiss-Prot
UniProt F8WBP7_HUMAN UniProtKB/TrEMBL
  P49792 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q13074 UniProtKB/Swiss-Prot
  Q15280 UniProtKB/Swiss-Prot
  Q53TE2 UniProtKB/Swiss-Prot
  Q59FH7 UniProtKB/Swiss-Prot