DCX (doublecortin) - Rat Genome Database

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Gene: DCX (doublecortin) Homo sapiens
Analyze
Symbol: DCX
Name: doublecortin
RGD ID: 1348637
HGNC Page HGNC
Description: Exhibits microtubule binding activity and protein kinase binding activity. Involved in neuron migration. Localizes to neuron projection. Implicated in lissencephaly and subcortical band heterotopia. Biomarker of high grade glioma and temporal lobe epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DBCN; DC; doublecortex; doublin; FLJ51296; lis-X; lissencephalin-X; LISX; neuronal migration protein doublecortin; SCLH; XLIS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX111,293,779 - 111,412,429 (-)EnsemblGRCh38hg38GRCh38
GRCh38X111,293,779 - 111,412,205 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X110,537,007 - 110,655,420 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X110,423,663 - 110,542,062 (-)NCBINCBI36hg18NCBI36
Build 34X110,343,151 - 110,461,551NCBI
CeleraX111,016,623 - 111,134,992 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX100,159,414 - 100,278,099 (-)NCBIHuRef
CHM1_1X110,448,522 - 110,566,950 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
1. Aigner L, etal., Neuropediatrics. 2000 Aug;31(4):195-8.
2. D'Alessio L, etal., Seizure. 2010 Nov;19(9):567-72. doi: 10.1016/j.seizure.2010.09.004.
3. des Portes V, etal., Hum Mol Genet. 1998 Jul;7(7):1063-70.
4. GOA_HUMAN data from the GO Consortium
5. Guerrini R, etal., Ann Neurol. 2003 Jul;54(1):30-7.
6. Haverfield EV, etal., Eur J Hum Genet. 2009 Jul;17(7):911-8. doi: 10.1038/ejhg.2008.213. Epub 2008 Dec 3.
7. Kato M, etal., Hum Genet. 1999 Apr;104(4):341-4.
8. Lapray D, etal., Cereb Cortex. 2010 Nov;20(11):2694-701. doi: 10.1093/cercor/bhq014. Epub 2010 Feb 17.
9. Manent JB, etal., Nat Med. 2009 Jan;15(1):84-90. doi: 10.1038/nm.1897. Epub 2008 Dec 21.
10. Nosten-Bertrand M, etal., PLoS One. 2008 Jun 25;3(6):e2473. doi: 10.1371/journal.pone.0002473.
11. OMIM Disease Annotation Pipeline
12. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. RGD automated import pipeline for gene-chemical interactions
14. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Santra M, etal., Cancer Res. 2006 Dec 15;66(24):11726-35.
16. Santra M, etal., Cancer Sci. 2011 Jul;102(7):1350-7. doi: 10.1111/j.1349-7006.2011.01952.x. Epub 2011 May 10.
17. Santra M, etal., J Neurosci Res. 2010 Feb 1;88(2):304-14. doi: 10.1002/jnr.22207.
18. Tsai MH, etal., Eur J Paediatr Neurol. 2016 Sep;20(5):788-94. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30.
19. Wang Y, etal., Arch Med Res. 2012 May;43(4):255-64. doi: 10.1016/j.arcmed.2012.05.002. Epub 2012 May 15.
20. Xu X, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2013 Oct;33(10):1437-41.
21. Yi SS, etal., Neurochem Res. 2009 Jun;34(6):1039-46. doi: 10.1007/s11064-008-9870-y. Epub 2008 Nov 4.
Additional References at PubMed
PMID:9132485   PMID:9489699   PMID:9489700   PMID:9668176   PMID:9817918   PMID:9989615   PMID:10399933   PMID:10441340   PMID:10807542   PMID:11001923   PMID:11175293   PMID:11468322  
PMID:11591131   PMID:11601509   PMID:11857568   PMID:12027577   PMID:12223548   PMID:12390976   PMID:12427674   PMID:12477932   PMID:12552055   PMID:12692530   PMID:12885786   PMID:14550532  
PMID:14702039   PMID:14741102   PMID:14741103   PMID:14999500   PMID:15045646   PMID:15057976   PMID:15345747   PMID:15489334   PMID:15607950   PMID:15663475   PMID:15714065   PMID:15772651  
PMID:16195916   PMID:16344560   PMID:16520969   PMID:16835924   PMID:16869982   PMID:17081983   PMID:17111359   PMID:17207965   PMID:17283321   PMID:17482550   PMID:17897623   PMID:18415660  
PMID:18685874   PMID:19094064   PMID:19221293   PMID:19713529   PMID:19844571   PMID:20236041   PMID:20301364   PMID:20726879   PMID:20974813   PMID:21044950   PMID:21516116   PMID:21832049  
PMID:21846577   PMID:21873635   PMID:21966452   PMID:22727374   PMID:22779921   PMID:22833188   PMID:23260340   PMID:23583063   PMID:23667508   PMID:23846421   PMID:23940030   PMID:24034596  
PMID:24288185   PMID:24607389   PMID:24758934   PMID:24945770   PMID:25283777   PMID:25416956   PMID:25760044   PMID:25817838   PMID:25868952   PMID:25921289   PMID:26186194   PMID:26498952  
PMID:27226599   PMID:27238282   PMID:28514442   PMID:28701724   PMID:28766905   PMID:30217970   PMID:30291144   PMID:30443988   PMID:30625347   PMID:30979500   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
DCX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX111,293,779 - 111,412,429 (-)EnsemblGRCh38hg38GRCh38
GRCh38X111,293,779 - 111,412,205 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X110,537,007 - 110,655,420 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X110,423,663 - 110,542,062 (-)NCBINCBI36hg18NCBI36
Build 34X110,343,151 - 110,461,551NCBI
CeleraX111,016,623 - 111,134,992 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX100,159,414 - 100,278,099 (-)NCBIHuRef
CHM1_1X110,448,522 - 110,566,950 (-)NCBICHM1_1
Dcx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X142,638,838 - 142,716,392 (-)NCBIGRCm39mm39
GRCm39 EnsemblX142,638,838 - 142,716,307 (-)Ensembl
GRCm38X143,855,842 - 143,933,396 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX143,855,842 - 143,933,311 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X140,290,385 - 140,367,762 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X139,102,210 - 139,179,587 (-)NCBImm8
CeleraX127,810,174 - 127,886,575 (-)NCBICelera
Cytogenetic MapXF2NCBI
Dcx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X107,430,767 - 107,573,612 (-)NCBI
Rnor_6.0 EnsemblX115,098,675 - 115,175,299 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X115,098,675 - 115,175,515 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X113,551,874 - 113,628,283 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X34,596,262 - 34,672,383 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X34,649,730 - 34,718,439NCBI
CeleraX106,829,783 - 106,906,206 (-)NCBICelera
Cytogenetic MapXq33-q34NCBI
Dcx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554904,354,307 - 4,469,055 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554904,354,307 - 4,469,055 (+)NCBIChiLan1.0ChiLan1.0
DCX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X110,878,060 - 110,988,303 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX110,875,032 - 110,988,582 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X100,411,871 - 100,529,833 (-)NCBIMhudiblu_PPA_v0panPan3
DCX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X84,408,762 - 84,541,157 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX84,408,895 - 84,517,827 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX70,501,790 - 70,641,477 (-)NCBI
ROS_Cfam_1.0X86,062,412 - 86,202,409 (-)NCBI
UMICH_Zoey_3.1X83,553,159 - 83,685,002 (-)NCBI
UNSW_CanFamBas_1.0X85,222,965 - 85,362,879 (-)NCBI
UU_Cfam_GSD_1.0X85,051,446 - 85,192,159 (-)NCBI
Dcx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X83,645,350 - 83,761,221 (-)NCBI
SpeTri2.0NW_0049364993,905,262 - 4,004,457 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DCX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX91,323,768 - 91,644,567 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X91,317,671 - 91,644,572 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X105,739,468 - 106,059,734 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DCX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X99,106,291 - 99,220,479 (-)NCBI
ChlSab1.1 EnsemblX99,120,505 - 99,220,237 (-)Ensembl
Vero_WHO_p1.0NW_02366606524,340,271 - 24,459,762 (-)NCBI
Dcx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248034,168,556 - 4,304,642 (+)NCBI

Position Markers
RH15935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,537,691 - 110,537,833UniSTSGRCh37
Build 36X110,424,347 - 110,424,489RGDNCBI36
CeleraX111,017,307 - 111,017,449RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,160,098 - 100,160,240UniSTS
GeneMap99-GB4 RH MapX283.62UniSTS
NCBI RH MapX539.2UniSTS
SHGC-34529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,537,026 - 110,537,154UniSTSGRCh37
Build 36X110,423,682 - 110,423,810RGDNCBI36
CeleraX111,016,642 - 111,016,770RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,159,433 - 100,159,561UniSTS
GeneMap99-GB4 RH MapX287.52UniSTS
Whitehead-RH MapX268.2UniSTS
NCBI RH MapX561.2UniSTS
GeneMap99-G3 RH MapX3838.0UniSTS
UniSTS:11003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,645,785 - 110,646,089UniSTSGRCh37
Build 36X110,532,441 - 110,532,745RGDNCBI36
CeleraX111,125,359 - 111,125,663RGD
SHGC-58209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,648,684 - 110,648,813UniSTSGRCh37
Build 36X110,535,340 - 110,535,469RGDNCBI36
CeleraX111,128,268 - 111,128,397RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,271,313 - 100,271,442UniSTS
DXS1188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,651,789 - 110,652,030UniSTSGRCh37
Build 36X110,538,445 - 110,538,686RGDNCBI36
CeleraX111,131,375 - 111,131,616RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,274,420 - 100,274,669UniSTS
REN20181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372140,710,407 - 40,710,635UniSTSGRCh37
Build 362139,632,277 - 39,632,505RGDNCBI36
Celera2125,908,036 - 25,908,264RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRef2126,178,827 - 26,179,055UniSTS
AFM340za9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,542,077 - 110,542,287UniSTSGRCh37
Build 36X110,428,733 - 110,428,943RGDNCBI36
CeleraX111,021,693 - 111,021,903RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,164,331 - 100,164,541UniSTS
Whitehead-RH MapX268.2UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX561.2UniSTS
RH47363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,537,074 - 110,537,194UniSTSGRCh37
Build 36X110,423,730 - 110,423,850RGDNCBI36
CeleraX111,016,690 - 111,016,810RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,159,481 - 100,159,601UniSTS
GeneMap99-GB4 RH MapX280.91UniSTS
NCBI RH MapX561.2UniSTS
DXS7357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,574,843 - 110,575,007UniSTSGRCh37
Build 36X110,461,499 - 110,461,663RGDNCBI36
CeleraX111,054,459 - 111,054,623RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,196,882 - 100,197,046UniSTS
AL008939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,579,642 - 110,579,782UniSTSGRCh37
Build 36X110,466,298 - 110,466,438RGDNCBI36
CeleraX111,059,258 - 111,059,398RGD
Cytogenetic MapXq22.3-q23UniSTS
HuRefX100,201,680 - 100,201,820UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR128-1hsa-miR-128-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19713529

Predicted Target Of
Summary Value
Count of predictions:18702
Count of miRNA genes:1431
Interacting mature miRNAs:1940
Transcripts:ENST00000338081, ENST00000356220, ENST00000356915, ENST00000358070, ENST00000371993, ENST00000468911, ENST00000488120, ENST00000496551
Prediction methods:Microtar, Miranda, Pita, 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 1
Medium 2 3 2 2 1 13 79 8 16 36 1
Low 52 10 180 20 7 6 243 27 2244 17 80 21 14 1 26 19 1 2
Below cutoff 2031 1311 880 317 464 174 2668 1520 1215 157 953 746 146 767 1750 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF034634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ003112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU120758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW163329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA497601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC375659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356220   ⟹   ENSP00000348553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,299,869 - 111,412,187 (-)Ensembl
RefSeq Acc Id: ENST00000358070   ⟹   ENSP00000350776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,293,780 - 111,411,146 (-)Ensembl
RefSeq Acc Id: ENST00000371993   ⟹   ENSP00000361061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,293,783 - 111,412,191 (-)Ensembl
RefSeq Acc Id: ENST00000468911   ⟹   ENSP00000418811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,410,060 - 111,411,807 (-)Ensembl
RefSeq Acc Id: ENST00000488120   ⟹   ENSP00000419861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,300,608 - 111,412,429 (-)Ensembl
RefSeq Acc Id: ENST00000496551   ⟹   ENSP00000490448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,301,683 - 111,410,949 (-)Ensembl
RefSeq Acc Id: ENST00000635795   ⟹   ENSP00000489635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,293,779 - 111,412,272 (-)Ensembl
RefSeq Acc Id: ENST00000636035   ⟹   ENSP00000490614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,293,779 - 111,412,192 (-)Ensembl
RefSeq Acc Id: ENST00000636381   ⟹   ENSP00000490068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,401,277 - 111,410,582 (-)Ensembl
RefSeq Acc Id: ENST00000637453   ⟹   ENSP00000490357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,300,758 - 111,412,192 (-)Ensembl
RefSeq Acc Id: ENST00000637570   ⟹   ENSP00000490878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,296,677 - 111,412,181 (-)Ensembl
RefSeq Acc Id: ENST00000680476   ⟹   ENSP00000505501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,293,779 - 111,410,420 (-)Ensembl
RefSeq Acc Id: NM_000555   ⟹   NP_000546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,411,146 (-)NCBI
GRCh37X110,537,007 - 110,655,460 (-)ENTREZGENE
Build 36X110,423,663 - 110,541,030 (-)NCBI Archive
HuRefX100,159,414 - 100,278,099 (-)ENTREZGENE
CHM1_1X110,448,522 - 110,565,864 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195553   ⟹   NP_001182482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,192 (-)NCBI
GRCh37X110,537,007 - 110,655,460 (-)ENTREZGENE
HuRefX100,159,414 - 100,278,099 (-)ENTREZGENE
CHM1_1X110,448,522 - 110,566,950 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369370   ⟹   NP_001356299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,097 (-)NCBI
RefSeq Acc Id: NM_001369371   ⟹   NP_001356300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,097 (-)NCBI
RefSeq Acc Id: NM_001369372   ⟹   NP_001356301
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,192 (-)NCBI
RefSeq Acc Id: NM_001369373   ⟹   NP_001356302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,192 (-)NCBI
RefSeq Acc Id: NM_001369374   ⟹   NP_001356303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,097 (-)NCBI
RefSeq Acc Id: NM_178151   ⟹   NP_835364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,192 (-)NCBI
GRCh37X110,537,007 - 110,655,460 (-)ENTREZGENE
Build 36X110,423,663 - 110,541,962 (-)NCBI Archive
HuRefX100,159,414 - 100,278,099 (-)ENTREZGENE
CHM1_1X110,448,522 - 110,566,909 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178152   ⟹   NP_835365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,192 (-)NCBI
GRCh37X110,537,007 - 110,655,460 (-)ENTREZGENE
Build 36X110,423,663 - 110,542,062 (-)NCBI Archive
HuRefX100,159,414 - 100,278,099 (-)ENTREZGENE
CHM1_1X110,448,522 - 110,566,950 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178153   ⟹   NP_835366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,192 (-)NCBI
GRCh37X110,537,007 - 110,655,460 (-)NCBI
Build 36X110,423,663 - 110,542,062 (-)NCBI Archive
HuRefX100,159,414 - 100,278,099 (-)ENTREZGENE
CHM1_1X110,448,522 - 110,566,950 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530879   ⟹   XP_011529181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,293,779 - 111,412,205 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000546 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182482 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356299 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356300 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356301 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356303 (Get FASTA)   NCBI Sequence Viewer  
  NP_835364 (Get FASTA)   NCBI Sequence Viewer  
  NP_835365 (Get FASTA)   NCBI Sequence Viewer  
  NP_835366 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529181 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC31696 (Get FASTA)   NCBI Sequence Viewer  
  AAC31797 (Get FASTA)   NCBI Sequence Viewer  
  AAC52037 (Get FASTA)   NCBI Sequence Viewer  
  AAH27925 (Get FASTA)   NCBI Sequence Viewer  
  BAF83144 (Get FASTA)   NCBI Sequence Viewer  
  BAG59765 (Get FASTA)   NCBI Sequence Viewer  
  BAG61691 (Get FASTA)   NCBI Sequence Viewer  
  CAA05867 (Get FASTA)   NCBI Sequence Viewer  
  CAA06617 (Get FASTA)   NCBI Sequence Viewer  
  EAX02642 (Get FASTA)   NCBI Sequence Viewer  
  EAX02643 (Get FASTA)   NCBI Sequence Viewer  
  EAX02644 (Get FASTA)   NCBI Sequence Viewer  
  EAX02645 (Get FASTA)   NCBI Sequence Viewer  
  EAX02646 (Get FASTA)   NCBI Sequence Viewer  
  EAX02647 (Get FASTA)   NCBI Sequence Viewer  
  EAX02648 (Get FASTA)   NCBI Sequence Viewer  
  EAX02649 (Get FASTA)   NCBI Sequence Viewer  
  O43602 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_835366   ⟸   NM_178153
- Peptide Label: isoform c
- UniProtKB: O43602 (UniProtKB/Swiss-Prot),   H3BLV5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_835365   ⟸   NM_178152
- Peptide Label: isoform b
- UniProtKB: O43602 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182482   ⟸   NM_001195553
- Peptide Label: isoform d
- UniProtKB: A8K340 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_835364   ⟸   NM_178151
- Peptide Label: isoform c
- UniProtKB: O43602 (UniProtKB/Swiss-Prot),   H3BLV5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000546   ⟸   NM_000555
- Peptide Label: isoform a
- UniProtKB: O43602 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529181   ⟸   XM_011530879
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001356302   ⟸   NM_001369373
- Peptide Label: isoform f
RefSeq Acc Id: NP_001356301   ⟸   NM_001369372
- Peptide Label: isoform e
RefSeq Acc Id: NP_001356303   ⟸   NM_001369374
- Peptide Label: isoform f
RefSeq Acc Id: NP_001356300   ⟸   NM_001369371
- Peptide Label: isoform b
RefSeq Acc Id: NP_001356299   ⟸   NM_001369370
- Peptide Label: isoform d
RefSeq Acc Id: ENSP00000489635   ⟸   ENST00000635795
RefSeq Acc Id: ENSP00000361061   ⟸   ENST00000371993
RefSeq Acc Id: ENSP00000490614   ⟸   ENST00000636035
RefSeq Acc Id: ENSP00000490068   ⟸   ENST00000636381
RefSeq Acc Id: ENSP00000490878   ⟸   ENST00000637570
RefSeq Acc Id: ENSP00000490357   ⟸   ENST00000637453
RefSeq Acc Id: ENSP00000418811   ⟸   ENST00000468911
RefSeq Acc Id: ENSP00000490448   ⟸   ENST00000496551
RefSeq Acc Id: ENSP00000419861   ⟸   ENST00000488120
RefSeq Acc Id: ENSP00000348553   ⟸   ENST00000356220
RefSeq Acc Id: ENSP00000350776   ⟸   ENST00000358070
RefSeq Acc Id: ENSP00000505501   ⟸   ENST00000680476
Protein Domains
Doublecortin

Promoters
RGD ID:13627878
Promoter ID:EPDNEW_H29214
Type:initiation region
Name:DCX_1
Description:doublecortin
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
GRCh38X111,412,175 - 111,412,235EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) single nucleotide variant Lissencephaly, X-linked [RCV000012355]|Subcortical laminar heterotopia, X-linked [RCV000012356] ChrX:111410215 [GRCh38]
ChrX:110653443 [GRCh37]
ChrX:Xq23
pathogenic|likely pathogenic
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) single nucleotide variant Heterotopia [RCV000145864]|Lissencephaly, X-linked [RCV000012357]|Subcortical laminar heterotopia, X-linked [RCV000012358]|not provided [RCV000423650] ChrX:111401121 [GRCh38]
ChrX:110644349 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.3(DCX):c.373T>C (p.Tyr125His) single nucleotide variant Lissencephaly, X-linked [RCV000012359]|Subcortical laminar heterotopia, X-linked [RCV000012360] ChrX:111401322 [GRCh38]
ChrX:110644550 [GRCh37]
ChrX:Xq23
pathogenic
DCX, IVS4, G-A, +1 single nucleotide variant Subcortical laminar heterotopia, X-linked [RCV000012361] ChrX:Xq22.3-q23 pathogenic
NM_178152.3(DCX):c.176G>T (p.Arg59Leu) single nucleotide variant Lissencephaly, X-linked [RCV000012362]|Subcortical laminar heterotopia, X-linked [RCV000012363] ChrX:111410223 [GRCh38]
ChrX:110653451 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.3(DCX):c.608C>G (p.Thr203Arg) single nucleotide variant Lissencephaly, X-linked [RCV000012364]|Subcortical laminar heterotopia, X-linked [RCV000012365] ChrX:111401087 [GRCh38]
ChrX:110644315 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.3(DCX):c.139A>C (p.Ser47Arg) single nucleotide variant Lissencephaly, X-linked [RCV000012366]|Subcortical laminar heterotopia, X-linked [RCV000012367] ChrX:111410260 [GRCh38]
ChrX:110653488 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.32_33GA[3] (p.Asp12fs) microsatellite Subcortical laminar heterotopia, X-linked [RCV000012368] ChrX:111410363..111410364 [GRCh38]
ChrX:110653591..110653592 [GRCh37]
ChrX:Xq23
pathogenic
DCX, 2-BP DEL, 684CT deletion Subcortical laminar heterotopia, X-linked [RCV000012369] ChrX:Xq22.3-q23 pathogenic
NM_001195553.2(DCX):c.689_690CT[1] (p.Leu231fs) microsatellite Subcortical laminar heterotopia, X-linked [RCV000012370] ChrX:111401003..111401004 [GRCh38]
ChrX:110644231..110644232 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.3(DCX):c.233G>A (p.Arg78His) single nucleotide variant Subcortical laminar heterotopia, X-linked [RCV000012371] ChrX:111410166 [GRCh38]
ChrX:110653394 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.3(DCX):c.265C>G (p.Arg89Gly) single nucleotide variant Subcortical laminar heterotopia, X-linked [RCV000012372] ChrX:111410134 [GRCh38]
ChrX:110653362 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.587G>A (p.Arg196His) single nucleotide variant Heterotopia [RCV000145869]|Lissencephaly, X-linked [RCV000012373]|Subcortical laminar heterotopia, X-linked [RCV000012374] ChrX:111401108 [GRCh38]
ChrX:110644336 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.3(DCX):c.211G>T (p.Ala71Ser) single nucleotide variant Lissencephaly, X-linked [RCV000012375]|Subcortical laminar heterotopia, X-linked [RCV000012376] ChrX:111410188 [GRCh38]
ChrX:110653416 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.270_273TCTG[1] (p.Ser92fs) microsatellite not provided [RCV000519439] ChrX:111410122..111410125 [GRCh38]
ChrX:110653350..110653353 [GRCh37]
ChrX:Xq23
pathogenic
NM_178152.2(DCX):c.705+25526A>T single nucleotide variant Lung cancer [RCV000102178] ChrX:111375464 [GRCh38]
ChrX:110618692 [GRCh37]
ChrX:Xq23
uncertain significance
NM_178152.2(DCX):c.705+3672A>T single nucleotide variant Lung cancer [RCV000102179] ChrX:111397318 [GRCh38]
ChrX:110640546 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.305G>A (p.Arg102His) single nucleotide variant Heterotopia [RCV000145834]|not provided [RCV000487771] ChrX:111410094 [GRCh38]
ChrX:110653322 [GRCh37]
ChrX:110539978 [NCBI36]
ChrX:Xq23
pathogenic|likely pathogenic|not provided
NM_000555.3(DCX):c.160G>A (p.Glu54Lys) single nucleotide variant Malignant melanoma [RCV000073042] ChrX:111410815 [GRCh38]
ChrX:110654043 [GRCh37]
ChrX:110540699 [NCBI36]
ChrX:Xq23
not provided
NM_001195553.2(DCX):c.568A>G (p.Lys190Glu) single nucleotide variant not provided [RCV000082706] ChrX:111401127 [GRCh38]
ChrX:110644355 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.785A>G (p.Asp262Gly) single nucleotide variant not provided [RCV000082707] ChrX:111333074 [GRCh38]
ChrX:110576302 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.289C>G (p.Leu97Val) single nucleotide variant Lissencephaly [RCV001291057] ChrX:111410110 [GRCh38]
ChrX:110653338 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23(chrX:111294396-111417260)x3 copy number gain See cases [RCV000133717] ChrX:111294396..111417260 [GRCh38]
ChrX:110537624..110660488 [GRCh37]
ChrX:110424280..110547144 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
NM_001195553.2(DCX):c.1045-2A>G single nucleotide variant Heterotopia [RCV000145805] ChrX:111301745 [GRCh38]
ChrX:110544973 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter) single nucleotide variant Heterotopia [RCV000145806] ChrX:111410284 [GRCh38]
ChrX:110653512 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.124del (p.Thr42fs) deletion Heterotopia [RCV000145807] ChrX:111410275 [GRCh38]
ChrX:110653503 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.128T>C (p.Leu43Ser) single nucleotide variant Heterotopia [RCV000145808] ChrX:111410271 [GRCh38]
ChrX:110653499 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.130C>T (p.Gln44Ter) single nucleotide variant Heterotopia [RCV000145809] ChrX:111410269 [GRCh38]
ChrX:110653497 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.150G>T (p.Lys50Asn) single nucleotide variant Heterotopia [RCV000145810] ChrX:111410249 [GRCh38]
ChrX:110653477 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.151_154del (p.Lys51fs) deletion Heterotopia [RCV000145811] ChrX:111410245..111410248 [GRCh38]
ChrX:110653473..110653476 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.167G>C (p.Arg56Pro) single nucleotide variant Heterotopia [RCV000145812] ChrX:111410232 [GRCh38]
ChrX:110653460 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.170T>G (p.Phe57Cys) single nucleotide variant Heterotopia [RCV000145813] ChrX:111410229 [GRCh38]
ChrX:110653457 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.176G>A (p.Arg59His) single nucleotide variant Heterotopia [RCV000145814] ChrX:111410223 [GRCh38]
ChrX:110653451 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.182G>A (p.Gly61Glu) single nucleotide variant Heterotopia [RCV000145815] ChrX:111410217 [GRCh38]
ChrX:110653445 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.185A>G (p.Asp62Gly) single nucleotide variant Heterotopia [RCV000145816] ChrX:111410214 [GRCh38]
ChrX:110653442 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys) single nucleotide variant Heterotopia [RCV000145817] ChrX:111410212 [GRCh38]
ChrX:110653440 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.191A>G (p.Tyr64Cys) single nucleotide variant Heterotopia [RCV000145818] ChrX:111410208 [GRCh38]
ChrX:110653436 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.195C>A (p.Phe65Leu) single nucleotide variant Heterotopia [RCV000145819] ChrX:111410204 [GRCh38]
ChrX:110653432 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.210C>A (p.Tyr70Ter) single nucleotide variant Heterotopia [RCV000145820] ChrX:111410189 [GRCh38]
ChrX:110653417 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.218C>T (p.Ser73Phe) single nucleotide variant Heterotopia [RCV000145821] ChrX:111410181 [GRCh38]
ChrX:110653409 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys) single nucleotide variant Heterotopia [RCV000145822] ChrX:111410173 [GRCh38]
ChrX:110653401 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.232C>T (p.Arg78Cys) single nucleotide variant Heterotopia [RCV000145823] ChrX:111410167 [GRCh38]
ChrX:110653395 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) single nucleotide variant Heterotopia [RCV000145824]|Lissencephaly [RCV001291058] ChrX:111410166 [GRCh38]
ChrX:110653394 [GRCh37]
ChrX:Xq23
pathogenic|likely pathogenic
NM_001195553.2(DCX):c.265C>T (p.Arg89Ter) single nucleotide variant Heterotopia [RCV000145825] ChrX:111410134 [GRCh38]
ChrX:110653362 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.266G>C (p.Arg89Pro) single nucleotide variant Heterotopia [RCV000145826] ChrX:111410133 [GRCh38]
ChrX:110653361 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.272T>C (p.Leu91Pro) single nucleotide variant Heterotopia [RCV000145827] ChrX:111410127 [GRCh38]
ChrX:110653355 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.290T>G (p.Leu97Arg) single nucleotide variant Heterotopia [RCV000145828] ChrX:111410109 [GRCh38]
ChrX:110653337 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.299G>A (p.Gly100Glu) single nucleotide variant Heterotopia [RCV000145829] ChrX:111410100 [GRCh38]
ChrX:110653328 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.299G>T (p.Gly100Val) single nucleotide variant Heterotopia [RCV000145830] ChrX:111410100 [GRCh38]
ChrX:110653328 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.2T>C (p.Met1Thr) single nucleotide variant Heterotopia [RCV000145831] ChrX:111410397 [GRCh38]
ChrX:110653625 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.301G>A (p.Val101Met) single nucleotide variant Heterotopia [RCV000145832] ChrX:111410098 [GRCh38]
ChrX:110653326 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys) single nucleotide variant Heterotopia [RCV000145833] ChrX:111410095 [GRCh38]
ChrX:110653323 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.310A>T (p.Ile104Phe) single nucleotide variant Heterotopia [RCV000145835] ChrX:111410089 [GRCh38]
ChrX:110653317 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.337A>T (p.Ile113Phe) single nucleotide variant Heterotopia [RCV000145836] ChrX:111410062 [GRCh38]
ChrX:110653290 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.339C>A (p.Ile113=) single nucleotide variant not provided [RCV001311096]|not specified [RCV000145837] ChrX:111410060 [GRCh38]
ChrX:110653288 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg) single nucleotide variant Heterotopia [RCV000145838] ChrX:111410035 [GRCh38]
ChrX:110653263 [GRCh37]
ChrX:Xq23
pathogenic
NM_178151.2(DCX):c.367del deletion Heterotopia [RCV000145839] ChrX:111401328 [GRCh38]
ChrX:110644556 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.377T>A (p.Val126Asp) single nucleotide variant Heterotopia [RCV000145840] ChrX:111401318 [GRCh38]
ChrX:110644546 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.380G>A (p.Cys127Tyr) single nucleotide variant Heterotopia [RCV000145841] ChrX:111401315 [GRCh38]
ChrX:110644543 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.386C>T (p.Ser129Leu) single nucleotide variant Heterotopia [RCV000145842] ChrX:111401309 [GRCh38]
ChrX:110644537 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.391_393del (p.Asn131del) deletion Heterotopia [RCV000145843] ChrX:111401302..111401304 [GRCh38]
ChrX:110644530..110644532 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.409G>T (p.Glu137Ter) single nucleotide variant Heterotopia [RCV000145844] ChrX:111401286 [GRCh38]
ChrX:110644514 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.412T>C (p.Tyr138His) single nucleotide variant Heterotopia [RCV000145845] ChrX:111401283 [GRCh38]
ChrX:110644511 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.413A>G (p.Tyr138Cys) single nucleotide variant Heterotopia [RCV000145846] ChrX:111401282 [GRCh38]
ChrX:110644510 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.451A>G (p.Lys151Glu) single nucleotide variant Heterotopia [RCV000145847] ChrX:111401244 [GRCh38]
ChrX:110644472 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.451A>T (p.Lys151Ter) single nucleotide variant Heterotopia [RCV000145848] ChrX:111401244 [GRCh38]
ChrX:110644472 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.478C>T (p.Gln160Ter) single nucleotide variant Heterotopia [RCV000145849] ChrX:111401217 [GRCh38]
ChrX:110644445 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.478_479del (p.Gln160fs) deletion Heterotopia [RCV000145850] ChrX:111401216..111401217 [GRCh38]
ChrX:110644444..110644445 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.494_504del (p.Ser165fs) deletion Heterotopia [RCV000145851] ChrX:111401191..111401201 [GRCh38]
ChrX:110644419..110644429 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.520A>G (p.Lys174Glu) single nucleotide variant Heterotopia [RCV000145852] ChrX:111401175 [GRCh38]
ChrX:110644403 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.532C>G (p.Arg178Gly) single nucleotide variant Heterotopia [RCV000145853] ChrX:111401163 [GRCh38]
ChrX:110644391 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys) single nucleotide variant Heterotopia [RCV000145854] ChrX:111401163 [GRCh38]
ChrX:110644391 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.533G>T (p.Arg178Leu) single nucleotide variant Heterotopia [RCV000145855] ChrX:111401162 [GRCh38]
ChrX:110644390 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.538A>G (p.Lys180Glu) single nucleotide variant Heterotopia [RCV000145856] ChrX:111401157 [GRCh38]
ChrX:110644385 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.551T>A (p.Ile184Asn) single nucleotide variant Heterotopia [RCV000145857] ChrX:111401144 [GRCh38]
ChrX:110644372 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) single nucleotide variant Heterotopia [RCV000145858]|not provided [RCV000489803] ChrX:111401139 [GRCh38]
ChrX:110644367 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.557G>A (p.Arg186His) single nucleotide variant Heterotopia [RCV000145859]|Lissencephaly, X-linked [RCV000680148] ChrX:111401138 [GRCh38]
ChrX:110644366 [GRCh37]
ChrX:Xq23
pathogenic|uncertain significance
NM_001195553.2(DCX):c.557G>T (p.Arg186Leu) single nucleotide variant Heterotopia [RCV000145860] ChrX:111401138 [GRCh38]
ChrX:110644366 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.55C>T (p.Arg19Ter) single nucleotide variant Heterotopia [RCV000145861] ChrX:111410344 [GRCh38]
ChrX:110653572 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.571C>A (p.Pro191Thr) single nucleotide variant Heterotopia [RCV000145862] ChrX:111401124 [GRCh38]
ChrX:110644352 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.572C>G (p.Pro191Arg) single nucleotide variant Heterotopia [RCV000145863]|not provided [RCV000498232] ChrX:111401123 [GRCh38]
ChrX:110644351 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.578_585del (p.Lys193fs) deletion Heterotopia [RCV000145865] ChrX:111401110..111401117 [GRCh38]
ChrX:110644338..110644345 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser) single nucleotide variant Heterotopia [RCV000145866] ChrX:111401109 [GRCh38]
ChrX:110644337 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.586C>G (p.Arg196Gly) single nucleotide variant Heterotopia [RCV000145867] ChrX:111401109 [GRCh38]
ChrX:110644337 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) single nucleotide variant Heterotopia [RCV000145868]|not provided [RCV000440789] ChrX:111401109 [GRCh38]
ChrX:110644337 [GRCh37]
ChrX:Xq23
pathogenic|likely pathogenic
NM_001195553.2(DCX):c.588T>C (p.Arg196=) single nucleotide variant History of neurodevelopmental disorder [RCV000719266]|not provided [RCV000878238]|not specified [RCV000145870] ChrX:111401107 [GRCh38]
ChrX:110644335 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001195553.2(DCX):c.596T>C (p.Leu199Pro) single nucleotide variant Heterotopia [RCV000145871]|not provided [RCV000478870] ChrX:111401099 [GRCh38]
ChrX:110644327 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.607A>G (p.Thr203Ala) single nucleotide variant Heterotopia [RCV000145872] ChrX:111401088 [GRCh38]
ChrX:110644316 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.608C>A (p.Thr203Lys) single nucleotide variant Heterotopia [RCV000145873] ChrX:111401087 [GRCh38]
ChrX:110644315 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.611C>A (p.Ala204Asp) single nucleotide variant Heterotopia [RCV000145874] ChrX:111401084 [GRCh38]
ChrX:110644312 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.614A>T (p.His205Leu) single nucleotide variant Heterotopia [RCV000145875] ChrX:111401081 [GRCh38]
ChrX:110644309 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.628G>T (p.Val210Phe) single nucleotide variant Heterotopia [RCV000145876] ChrX:111401067 [GRCh38]
ChrX:110644295 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.641T>C (p.Ile214Thr) single nucleotide variant Heterotopia [RCV000145877] ChrX:111401054 [GRCh38]
ChrX:110644282 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.651del (p.Ile218fs) deletion Heterotopia [RCV000145878] ChrX:111401044 [GRCh38]
ChrX:110644272 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.666del (p.Val224fs) deletion Heterotopia [RCV000145879] ChrX:111401029 [GRCh38]
ChrX:110644257 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) single nucleotide variant Heterotopia [RCV000145880]|not provided [RCV000996004] ChrX:111401028 [GRCh38]
ChrX:110644256 [GRCh37]
ChrX:Xq23
pathogenic|uncertain significance
NM_001195553.2(DCX):c.670del (p.Val224fs) deletion Heterotopia [RCV000145881] ChrX:111401025 [GRCh38]
ChrX:110644253 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.681del (p.Lys227fs) deletion Heterotopia [RCV000145882] ChrX:111401014 [GRCh38]
ChrX:110644242 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.683T>C (p.Leu228Pro) single nucleotide variant Heterotopia [RCV000145883] ChrX:111401012 [GRCh38]
ChrX:110644240 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.688A>C (p.Thr230Pro) single nucleotide variant Heterotopia [RCV000145884] ChrX:111401007 [GRCh38]
ChrX:110644235 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.724T>A (p.Phe242Ile) single nucleotide variant Heterotopia [RCV000145885] ChrX:111333135 [GRCh38]
ChrX:110576363 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.734_736ATG[2] (p.Asp247del) microsatellite Heterotopia [RCV000145886] ChrX:111333117..111333119 [GRCh38]
ChrX:110576345..110576347 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.746T>G (p.Phe249Cys) single nucleotide variant Heterotopia [RCV000145887] ChrX:111333113 [GRCh38]
ChrX:110576341 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.751G>T (p.Ala251Ser) single nucleotide variant Heterotopia [RCV000145888] ChrX:111333108 [GRCh38]
ChrX:110576336 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.766A>T (p.Lys256Ter) single nucleotide variant Heterotopia [RCV000145889] ChrX:111333093 [GRCh38]
ChrX:110576321 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.773G>C (p.Arg258Pro) single nucleotide variant Heterotopia [RCV000145890] ChrX:111333086 [GRCh38]
ChrX:110576314 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter) single nucleotide variant Heterotopia [RCV000145891]|not provided [RCV000178405] ChrX:111333078 [GRCh38]
ChrX:110576306 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.809-1G>A single nucleotide variant Heterotopia [RCV000145892]|Lissencephaly, X-linked [RCV000660394] ChrX:111331042 [GRCh38]
ChrX:110574270 [GRCh37]
ChrX:Xq23
pathogenic|likely pathogenic
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) single nucleotide variant Heterotopia [RCV000145893]|not provided [RCV000255524] ChrX:111331036 [GRCh38]
ChrX:110574264 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.853A>T (p.Lys285Ter) single nucleotide variant Heterotopia [RCV000145894] ChrX:111330997 [GRCh38]
ChrX:110574225 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) single nucleotide variant Heterotopia [RCV000145895]|Lissencephaly [RCV001291056]|not provided [RCV000493373] ChrX:111330943 [GRCh38]
ChrX:110574171 [GRCh37]
ChrX:Xq23
pathogenic|likely pathogenic
NM_001195553.2(DCX):c.95G>A (p.Ser32Asn) single nucleotide variant Heterotopia [RCV000145896] ChrX:111410304 [GRCh38]
ChrX:110653532 [GRCh37]
ChrX:Xq23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq23(chrX:111318320-111348178)x3 copy number gain See cases [RCV000141678] ChrX:111318320..111348178 [GRCh38]
ChrX:110561548..110591406 [GRCh37]
ChrX:110448204..110478062 [NCBI36]
ChrX:Xq23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.772C>T (p.Arg258Cys) single nucleotide variant not provided [RCV000723881] ChrX:111333087 [GRCh38]
ChrX:110576315 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.763G>T (p.Glu255Ter) single nucleotide variant not provided [RCV000153146] ChrX:111333096 [GRCh38]
ChrX:110576324 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.706-2A>G single nucleotide variant not provided [RCV000255147] ChrX:111333155 [GRCh38]
ChrX:110576383 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000718961]|not provided [RCV000996003]|not specified [RCV000195043] ChrX:111330994 [GRCh38]
ChrX:110574222 [GRCh37]
ChrX:Xq23
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.685_699dup (p.Tyr229_Gly233dup) duplication Abnormal cortical gyration [RCV000193000] ChrX:111400995..111400996 [GRCh38]
ChrX:110644223..110644224 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup) duplication Abnormal cortical gyration [RCV000193684] ChrX:111410083..111410084 [GRCh38]
ChrX:110653311..110653312 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001195553.2(DCX):c.528del (p.Phe176fs) deletion Abnormal cortical gyration [RCV000192741] ChrX:111401167 [GRCh38]
ChrX:110644395 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) single nucleotide variant Abnormal cortical gyration [RCV000192850] ChrX:111410119 [GRCh38]
ChrX:110653347 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.875dup (p.Thr293fs) duplication Abnormal cortical gyration [RCV000193265] ChrX:111330974..111330975 [GRCh38]
ChrX:110574202..110574203 [GRCh37]
ChrX:Xq23
pathogenic|uncertain significance
NM_001195553.2(DCX):c.23_24del (p.His7_Phe8insTer) deletion Abnormal cortical gyration [RCV000193604] ChrX:111410375..111410376 [GRCh38]
ChrX:110653603..110653604 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.81_85dup (p.Pro29fs) duplication Abnormal cortical gyration [RCV000193837] ChrX:111410313..111410314 [GRCh38]
ChrX:110653541..110653542 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.578del (p.Lys193fs) deletion not specified [RCV000193959] ChrX:111401117 [GRCh38]
ChrX:110644345 [GRCh37]
ChrX:Xq23
benign
NM_178151.2(DCX):c.226_234delCGTTTTCGCins2 indel Abnormal cortical gyration [RCV000194646] ChrX:111410165..111410173 [GRCh38]
ChrX:110653393..110653401 [GRCh37]
ChrX:Xq23
pathogenic|uncertain significance
NM_001195553.2(DCX):c.339dup (p.Gly114fs) duplication Abnormal cortical gyration [RCV000194902] ChrX:111410059..111410060 [GRCh38]
ChrX:110653287..110653288 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.681dup (p.Leu228fs) duplication Abnormal cortical gyration [RCV000195154] ChrX:111401013..111401014 [GRCh38]
ChrX:110644241..110644242 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.304C>G (p.Arg102Gly) single nucleotide variant not provided [RCV000377977] ChrX:111410095 [GRCh38]
ChrX:110653323 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.705+29G>A single nucleotide variant not specified [RCV000251361] ChrX:111400961 [GRCh38]
ChrX:110644189 [GRCh37]
ChrX:Xq23
benign
NM_001195553.2(DCX):c.947-46T>C single nucleotide variant not provided [RCV000835307]|not specified [RCV000246727] ChrX:111312782 [GRCh38]
ChrX:110556010 [GRCh37]
ChrX:Xq23
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.705+48A>G single nucleotide variant not specified [RCV000243387] ChrX:111400942 [GRCh38]
ChrX:110644170 [GRCh37]
ChrX:Xq23
benign|likely benign|conflicting interpretations of pathogenicity
NM_001195553.2(DCX):c.467dup (p.Met156fs) duplication not provided [RCV000357233] ChrX:111401227..111401228 [GRCh38]
ChrX:110644455..110644456 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.752C>A (p.Ala251Asp) single nucleotide variant not provided [RCV000489609] ChrX:111333107 [GRCh38]
ChrX:110576335 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001195553.2(DCX):c.30_31del (p.Arg11_Asp12insTer) deletion not provided [RCV000489903] ChrX:111410368..111410369 [GRCh38]
ChrX:110653596..110653597 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.-22-364C>T single nucleotide variant Lissencephaly, X-linked [RCV000585839] ChrX:111410784 [GRCh38]
ChrX:110654012 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_178152.3(DCX):c.847G>A (p.Gly283Ser) single nucleotide variant not specified [RCV000518814] ChrX:111331003 [GRCh38]
ChrX:110574231 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_001195553.2(DCX):c.96C>T (p.Ser32=) single nucleotide variant History of neurodevelopmental disorder [RCV000720052]|not specified [RCV000433198] ChrX:111410303 [GRCh38]
ChrX:110653531 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001195553.2(DCX):c.320T>C (p.Ile107Thr) single nucleotide variant not provided [RCV000484037] ChrX:111410079 [GRCh38]
ChrX:110653307 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.389A>G (p.Asp130Gly) single nucleotide variant not provided [RCV000480476] ChrX:111401306 [GRCh38]
ChrX:110644534 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.667G>C (p.Gly223Arg) single nucleotide variant not provided [RCV000483287] ChrX:111401028 [GRCh38]
ChrX:110644256 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.364+1del deletion not provided [RCV000478400] ChrX:111410034 [GRCh38]
ChrX:110653262 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.1087G>C (p.Gly363Arg) single nucleotide variant not provided [RCV000487175] ChrX:111301701 [GRCh38]
ChrX:110544929 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.892C>T (p.Pro298Ser) single nucleotide variant not provided [RCV000487253] ChrX:111330958 [GRCh38]
ChrX:110574186 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.505C>T (p.Gln169Ter) single nucleotide variant not provided [RCV000480025] ChrX:111401190 [GRCh38]
ChrX:110644418 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.544G>T (p.Val182Phe) single nucleotide variant Lissencephaly, X-linked [RCV000501007] ChrX:111401151 [GRCh38]
ChrX:110644379 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.777T>C (p.Tyr259=) single nucleotide variant not specified [RCV000503949] ChrX:111333082 [GRCh38]
ChrX:110576310 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.705+1del deletion Subcortical laminar heterotopia, X-linked [RCV000504479] ChrX:111400989 [GRCh38]
ChrX:110644217 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.355_356del (p.Leu119fs) deletion Subcortical laminar heterotopia, X-linked [RCV000503117] ChrX:111410043..111410044 [GRCh38]
ChrX:110653271..110653272 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.682_683CT[1] (p.Tyr229fs) microsatellite Lissencephaly, X-linked [RCV000504055]|Subcortical laminar heterotopia, X-linked [RCV000012369] ChrX:111401010..111401011 [GRCh38]
ChrX:110644238..110644239 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001195553.2(DCX):c.809-3C>T single nucleotide variant not specified [RCV000500261] ChrX:111331044 [GRCh38]
ChrX:110574272 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.1045G>C (p.Asp349His) single nucleotide variant not specified [RCV000502593] ChrX:111301743 [GRCh38]
ChrX:110544971 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_001195553.2(DCX):c.192C>G (p.Tyr64Ter) single nucleotide variant not provided [RCV000579102] ChrX:111410207 [GRCh38]
ChrX:110653435 [GRCh37]
ChrX:Xq23
pathogenic
NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn) single nucleotide variant Lissencephaly, X-linked [RCV000656086] ChrX:111410209 [GRCh38]
ChrX:110653437 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) single nucleotide variant Fucosidosis [RCV000625954] ChrX:111410111 [GRCh38]
ChrX:110653339 [GRCh37]
ChrX:Xq23
pathogenic|likely pathogenic
NM_001195553.2(DCX):c.155C>A (p.Ala52Asp) single nucleotide variant Inborn genetic diseases [RCV000623860] ChrX:111410244 [GRCh38]
ChrX:110653472 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001195553.2(DCX):c.757G>C (p.Gly253Arg) single nucleotide variant not provided [RCV000524000] ChrX:111333102 [GRCh38]
ChrX:110576330 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.587G>T (p.Arg196Leu) single nucleotide variant not provided [RCV000585155] ChrX:111401108 [GRCh38]
ChrX:110644336 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001195553.2(DCX):c.774C>T (p.Arg258=) single nucleotide variant History of neurodevelopmental disorder [RCV000718334] ChrX:111333085 [GRCh38]
ChrX:110576313 [GRCh37]
ChrX:Xq23
likely benign
NM_001195553.2(DCX):c.948A>C (p.Ala316=) single nucleotide variant History of neurodevelopmental disorder [RCV000720719]|not provided [RCV000991878] ChrX:111312735 [GRCh38]
ChrX:110555963 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_001195553.2(DCX):c.84C>T (p.Ser28=) single nucleotide variant History of neurodevelopmental disorder [RCV000720156] ChrX:111410315 [GRCh38]
ChrX:110653543 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Schizophrenia [RCV000754364] ChrX:110074915..115196481 [GRCh38]
ChrX:Xq23
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001195553.2(DCX):c.777T>A (p.Tyr259Ter) single nucleotide variant not provided [RCV000760908] ChrX:111333082 [GRCh38]
ChrX:110576310 [GRCh37]
ChrX:Xq23
likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001195553.2(DCX):c.226C>G (p.Arg76Gly) single nucleotide variant Lissencephaly, X-linked [RCV000760181] ChrX:111410173 [GRCh38]
ChrX:110653401 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001195553.2(DCX):c.951C>T (p.Asn317=) single nucleotide variant not provided [RCV000969508] ChrX:111312732 [GRCh38]
ChrX:110555960 [GRCh37]
ChrX:Xq23
likely benign
NC_000023.11:g.(?_111301667)_(111760019_?)dup duplication Epileptic encephalopathy, early infantile, 36 [RCV001033915] ChrX:110544895..111003247 [GRCh37]
ChrX:Xq23
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) single nucleotide variant Lissencephaly, X-linked [RCV000984506] ChrX:111401030 [GRCh38]
ChrX:110644258 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.809-9T>C single nucleotide variant not provided [RCV000902636] ChrX:111331050 [GRCh38]
ChrX:110574278 [GRCh37]
ChrX:Xq23
benign
NM_001195553.2(DCX):c.1044+234G>A single nucleotide variant not provided [RCV000836431] ChrX:111312405 [GRCh38]
ChrX:110555633 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely pathogenic
NM_001195553.2(DCX):c.162G>C (p.Lys54Asn) single nucleotide variant not provided [RCV001090399] ChrX:111410237 [GRCh38]
ChrX:110653465 [GRCh37]
ChrX:Xq23
uncertain significance
NC_000023.10:g.110556010A>G single nucleotide variant not provided [RCV000835307] ChrX:110556010 [GRCh37]
ChrX:Xq23
likely benign
NM_001195553.2(DCX):c.601A>T (p.Lys201Ter) single nucleotide variant not provided [RCV001090398] ChrX:111401094 [GRCh38]
ChrX:110644322 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq23(chrX:110531355-110561549)x3 copy number gain not provided [RCV000846536] ChrX:110531355..110561549 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq23(chrX:110472421-110789961)x2 copy number gain not provided [RCV000849282] ChrX:110472421..110789961 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_001195553.2(DCX):c.211G>A (p.Ala71Thr) single nucleotide variant Lissencephaly, X-linked [RCV001030995] ChrX:111410188 [GRCh38]
ChrX:110653416 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001195553.2(DCX):c.808+1G>A single nucleotide variant Lissencephaly, X-linked [RCV001250735] ChrX:111333050 [GRCh38]
ChrX:110576278 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_001195553.2(DCX):c.666C>T (p.Thr222=) single nucleotide variant not provided [RCV000887541] ChrX:111401029 [GRCh38]
ChrX:110644257 [GRCh37]
ChrX:Xq23
benign
NM_001195553.2(DCX):c.167G>T (p.Arg56Leu) single nucleotide variant not provided [RCV001200546] ChrX:111410232 [GRCh38]
ChrX:110653460 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001195553.2(DCX):c.-22-387T>G single nucleotide variant Lissencephaly, X-linked [RCV001329997] ChrX:111410807 [GRCh38]
ChrX:110654035 [GRCh37]
ChrX:Xq23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2714 AgrOrtholog
COSMIC DCX COSMIC
Ensembl Genes ENSG00000077279 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348553 UniProtKB/TrEMBL
  ENSP00000350776 UniProtKB/Swiss-Prot
  ENSP00000361061 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418811 UniProtKB/TrEMBL
  ENSP00000419861 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489635 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490068 UniProtKB/TrEMBL
  ENSP00000490357 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490448 UniProtKB/Swiss-Prot
  ENSP00000490614 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490878 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000505501 ENTREZGENE
Ensembl Transcript ENST00000356220 UniProtKB/TrEMBL
  ENST00000358070 UniProtKB/Swiss-Prot
  ENST00000371993 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000468911 UniProtKB/TrEMBL
  ENST00000488120 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000496551 UniProtKB/Swiss-Prot
  ENST00000635795 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000636035 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000636381 UniProtKB/TrEMBL
  ENST00000637453 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637570 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000680476 ENTREZGENE
Gene3D-CATH 3.10.20.230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000077279 GTEx
HGNC ID HGNC:2714 ENTREZGENE
Human Proteome Map DCX Human Proteome Map
InterPro Doublecortin_chordata UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Doublecortin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Doublecortin_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RP1/RP1L1/DCX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1641 UniProtKB/Swiss-Prot
NCBI Gene 1641 ENTREZGENE
OMIM 300067 OMIM
  300121 OMIM
PANTHER PTHR23005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DCX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27184 PharmGKB
PIRSF Doublin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50309 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DCX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF89837 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GUE1_HUMAN UniProtKB/TrEMBL
  A0A1B0GWD1_HUMAN UniProtKB/TrEMBL
  A8K340 ENTREZGENE, UniProtKB/TrEMBL
  DCX_HUMAN UniProtKB/Swiss-Prot
  E7EU50_HUMAN UniProtKB/TrEMBL
  H3BLV5 ENTREZGENE
  O43602 ENTREZGENE
UniProt Secondary A6NFY6 UniProtKB/Swiss-Prot
  A9Z1V8 UniProtKB/Swiss-Prot
  D3DUY8 UniProtKB/Swiss-Prot
  D3DUY9 UniProtKB/Swiss-Prot
  D3DUZ0 UniProtKB/Swiss-Prot
  O43911 UniProtKB/Swiss-Prot
  Q5JYZ5 UniProtKB/Swiss-Prot