NLGN4X (neuroligin 4 X-linked) - Rat Genome Database

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Gene: NLGN4X (neuroligin 4 X-linked) Homo sapiens
Analyze
Symbol: NLGN4X
Name: neuroligin 4 X-linked
RGD ID: 1603020
HGNC Page HGNC
Description: Exhibits several functions, including chloride ion binding activity; neurexin family protein binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of excitatory postsynaptic potential; presynaptic membrane assembly; and social behavior. Localizes to several cellular components, including cell surface; dendrite; and excitatory synapse. Implicated in Asperger syndrome and autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ASPGX2; AUTSX2; HLNX; HNL4X; HNLX; KIAA1260; MGC22376; neuroligin 4; neuroligin 4, X-linked; neuroligin X; neuroligin-4, X-linked; NLGN; NLGN4
RGD Orthologs
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 EnsemblX5,840,637 - 6,228,867 (-)EnsemblGRCh38hg38GRCh38
GRCh38X5,890,042 - 6,228,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X5,808,083 - 6,146,908 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X5,818,083 - 6,156,706 (-)NCBINCBI36hg18NCBI36
CeleraX10,032,940 - 10,372,016 (-)NCBI
Cytogenetic MapXp22.32-p22.31NCBI
HuRefX3,686,314 - 4,028,458 (-)NCBIHuRef
CHM1_1X5,839,610 - 6,178,287 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

Additional References at PubMed
PMID:9278515   PMID:10574462   PMID:10996085   PMID:11368788   PMID:12477932   PMID:12669065   PMID:12975309   PMID:14702039   PMID:14963808   PMID:15146197   PMID:15150161   PMID:15274046  
PMID:15340161   PMID:15389766   PMID:15489334   PMID:15620359   PMID:15622415   PMID:16077734   PMID:16344560   PMID:16377159   PMID:16508939   PMID:16648374   PMID:17292328   PMID:18029348  
PMID:18093521   PMID:18189281   PMID:18227507   PMID:18231125   PMID:18628683   PMID:18923512   PMID:19058789   PMID:19125102   PMID:19545860   PMID:19598235   PMID:19645625   PMID:19726642  
PMID:19736351   PMID:20436377   PMID:20543817   PMID:20714171   PMID:21278334   PMID:21838267   PMID:21873635   PMID:22948383   PMID:23431752   PMID:23468870   PMID:23710042   PMID:23851596  
PMID:24570023   PMID:25056061   PMID:25675530   PMID:27782075   PMID:28514442   PMID:28948087   PMID:29123130   PMID:29244827   PMID:29622757   PMID:30639242   PMID:31257103   PMID:32243781  
PMID:32848696   PMID:33268543  


Genomics

Comparative Map Data
NLGN4X
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX5,840,637 - 6,228,867 (-)EnsemblGRCh38hg38GRCh38
GRCh38X5,890,042 - 6,228,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X5,808,083 - 6,146,908 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X5,818,083 - 6,156,706 (-)NCBINCBI36hg18NCBI36
CeleraX10,032,940 - 10,372,016 (-)NCBI
Cytogenetic MapXp22.32-p22.31NCBI
HuRefX3,686,314 - 4,028,458 (-)NCBIHuRef
CHM1_1X5,839,610 - 6,178,287 (-)NCBICHM1_1
Nlgn4x
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554993,951,954 - 4,347,625 (-)NCBIChiLan1.0ChiLan1.0
NLGN4X
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X5,753,919 - 6,094,783 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX5,756,699 - 6,018,008 (-)Ensemblpanpan1.1panPan2
NLGN4X
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X3,409,529 - 3,708,234 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX3,366,223 - 3,721,538 (-)NCBI
ROS_Cfam_1.0X3,338,678 - 3,690,087 (-)NCBI
UMICH_Zoey_3.1X3,344,078 - 3,699,397 (-)NCBI
UNSW_CanFamBas_1.0X3,377,337 - 3,732,447 (-)NCBI
UU_Cfam_GSD_1.0X3,377,071 - 3,730,877 (-)NCBI
Nlgn4x
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049532,593,735 - 2,760,035 (-)NCBI
SpeTri2.0NW_0049366441,616,704 - 1,782,377 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100624109
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X2,701,397 - 3,103,824 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y1,645,491 - 1,946,441 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X3,231,733 - 3,284,029 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NLGN4X
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X4,217,557 - 4,373,669 (-)NCBI
ChlSab1.1 EnsemblX4,087,920 - 4,104,698 (-)Ensembl
Vero_WHO_p1.0NW_0236660565,966,977 - 6,308,877 (-)NCBI
Nlgn4x
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248343,646,449 - 4,000,328 (-)NCBI

Position Markers
DXS996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X5,859,151 - 5,859,352UniSTSGRCh37
GRCh37X5,859,195 - 5,859,357UniSTSGRCh37
Build 36X5,869,195 - 5,869,357RGDNCBI36
CeleraX10,084,050 - 10,084,212RGD
CeleraX10,084,006 - 10,084,207UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefX3,736,738 - 3,736,902UniSTS
HuRefX3,736,694 - 3,736,897UniSTS
Marshfield Genetic MapX15.66RGD
Marshfield Genetic MapX15.66UniSTS
Genethon Genetic MapX10.8UniSTS
deCODE Assembly MapX12.71UniSTS
GeneMap99-GB4 RH MapX78.92UniSTS
NCBI RH MapX10.0UniSTS
RH15923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,955,390 - 16,955,512UniSTSGRCh37
GRCh37X5,808,415 - 5,808,540UniSTSGRCh37
Build 36X5,818,415 - 5,818,540RGDNCBI36
CeleraX3,941,336 - 3,941,458UniSTS
CeleraX10,033,272 - 10,033,397RGD
Cytogenetic MapYq11.221UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefX3,686,646 - 3,686,771UniSTS
HuRefY11,560,415 - 11,560,537UniSTS
G43607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,955,286 - 16,955,513UniSTSGRCh37
GRCh37X5,808,414 - 5,808,645UniSTSGRCh37
Build 36X5,818,414 - 5,818,645RGDNCBI36
CeleraX3,941,232 - 3,941,459UniSTS
CeleraX10,033,271 - 10,033,502RGD
Cytogenetic MapYq11.221UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefX3,686,645 - 3,686,876UniSTS
HuRefY11,560,311 - 11,560,538UniSTS
DXS1118E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X5,991,996 - 5,992,091UniSTSGRCh37
Build 36X6,001,996 - 6,002,091RGDNCBI36
CeleraX10,217,192 - 10,217,287RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,871,572 - 3,871,667UniSTS
DXS7538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,044,915 - 6,045,003UniSTSGRCh37
Build 36X6,054,915 - 6,055,003RGDNCBI36
CeleraX10,270,097 - 10,270,185RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,923,551 - 3,923,639UniSTS
DXS7979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,097,389 - 6,097,490UniSTSGRCh37
Build 36X6,107,389 - 6,107,490RGDNCBI36
CeleraX10,322,584 - 10,322,685RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,975,762 - 3,975,863UniSTS
SHGC-147783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,053,572 - 6,053,877UniSTSGRCh37
Build 36X6,063,572 - 6,063,877RGDNCBI36
CeleraX10,278,758 - 10,279,063RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,932,084 - 3,932,389UniSTS
TNG Radiation Hybrid MapX4614.0UniSTS
SHGC-150657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X5,859,194 - 5,859,354UniSTSGRCh37
Build 36X5,869,194 - 5,869,354RGDNCBI36
CeleraX10,084,049 - 10,084,209RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,736,737 - 3,736,899UniSTS
TNG Radiation Hybrid MapX919.0UniSTS
TNG Radiation Hybrid Map15219.0UniSTS
SHGC-155196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,093,340 - 6,093,639UniSTSGRCh37
Build 36X6,103,340 - 6,103,639RGDNCBI36
CeleraX10,318,526 - 10,318,825RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,971,677 - 3,971,976UniSTS
TNG Radiation Hybrid MapX4588.0UniSTS
DXYS125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,895,778 - 16,895,915UniSTSGRCh37
GRCh37X5,865,540 - 5,865,677UniSTSGRCh37
Build 36X5,875,540 - 5,875,677RGDNCBI36
CeleraX3,881,723 - 3,881,860UniSTS
CeleraX10,090,395 - 10,090,532RGD
Cytogenetic MapYq11.221UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefX3,743,087 - 3,743,224UniSTS
HuRefY11,501,180 - 11,501,317UniSTS
DXS7042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,148,541 - 6,148,693UniSTSGRCh37
Build 36X6,158,541 - 6,158,693RGDNCBI36
CeleraX10,373,851 - 10,374,003RGD
Cytogenetic MapXp22.33UniSTS
HuRefX4,030,293 - 4,030,445UniSTS
Whitehead-RH MapX11.4UniSTS
NCBI RH MapX10.0UniSTS
DXS7031E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X5,807,712 - 5,807,884UniSTSGRCh37
Build 36X5,817,712 - 5,817,884RGDNCBI36
CeleraX10,032,569 - 10,032,741RGD
Cytogenetic MapXp22.33UniSTS
HuRefX3,685,943 - 3,686,115UniSTS
GeneMap99-GB4 RH MapX78.92UniSTS
NCBI RH MapX10.0UniSTS
G66233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,793,837 - 16,793,971UniSTSGRCh37
GRCh37X5,996,260 - 5,996,394UniSTSGRCh37
Build 36X6,006,260 - 6,006,394RGDNCBI36
CeleraX10,221,456 - 10,221,590RGD
CeleraX3,779,782 - 3,779,916UniSTS
Cytogenetic MapYq11.221UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefY11,399,803 - 11,399,937UniSTS
G66396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X5,992,303 - 5,992,401UniSTSGRCh37
GRCh37Y16,797,802 - 16,797,900UniSTSGRCh37
Build 36X6,002,303 - 6,002,401RGDNCBI36
CeleraX3,783,747 - 3,783,845UniSTS
CeleraX10,217,499 - 10,217,597RGD
Cytogenetic MapYq11.221UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefX3,871,879 - 3,871,977UniSTS
sY3205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y16,791,922 - 16,792,143UniSTSGRCh37
GRCh37X5,998,078 - 5,998,314UniSTSGRCh37
CeleraX3,777,867 - 3,778,088UniSTS
CeleraX10,223,274 - 10,223,510UniSTS
HuRefX3,877,531 - 3,877,767UniSTS
HuRefY11,397,889 - 11,398,110UniSTS
DXS996  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.33UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5347
Count of miRNA genes:1208
Interacting mature miRNAs:1501
Transcripts:ENST00000275857, ENST00000381092, ENST00000381093, ENST00000381095, ENST00000469740, ENST00000477079, ENST00000483337, ENST00000538097
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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 63 9 40 8 49 9 330 25 709 28 213 33 3 124
Low 2128 1799 1073 253 581 182 2560 1195 2932 192 1111 1222 75 1 1150 1581 1
Below cutoff 136 823 579 338 618 248 1430 952 73 170 82 237 92 51 1081 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF376803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX773938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM995742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN357526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA724500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000275857   ⟹   ENSP00000275857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX5,890,278 - 6,227,847 (-)Ensembl
RefSeq Acc Id: ENST00000381092   ⟹   ENSP00000370482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX5,892,205 - 6,228,615 (-)Ensembl
RefSeq Acc Id: ENST00000381093   ⟹   ENSP00000370483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX5,890,032 - 6,227,203 (-)Ensembl
RefSeq Acc Id: ENST00000381095   ⟹   ENSP00000370485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX5,890,042 - 6,228,867 (-)Ensembl
RefSeq Acc Id: ENST00000469740   ⟹   ENSP00000493620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX6,151,009 - 6,226,765 (-)Ensembl
RefSeq Acc Id: ENST00000477079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX5,840,637 - 5,903,353 (-)Ensembl
RefSeq Acc Id: ENST00000483337   ⟹   ENSP00000495194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX6,151,290 - 6,187,038 (-)Ensembl
RefSeq Acc Id: ENST00000538097   ⟹   ENSP00000439203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX5,892,204 - 6,151,466 (-)Ensembl
RefSeq Acc Id: NM_001282145   ⟹   NP_001269074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,228,867 (-)NCBI
HuRefX3,686,298 - 4,028,675 (-)NCBI
CHM1_1X5,839,610 - 6,178,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282146   ⟹   NP_001269075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,227,087 (-)NCBI
HuRefX3,686,298 - 4,028,675 (-)NCBI
CHM1_1X5,839,610 - 6,176,608 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020742   ⟹   NP_065793
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,227,847 (-)NCBI
GRCh37X5,808,067 - 6,146,916 (-)NCBI
Build 36X5,818,083 - 6,155,888 (-)NCBI Archive
HuRefX3,686,298 - 4,028,675 (-)NCBI
CHM1_1X5,839,610 - 6,177,252 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181332   ⟹   NP_851849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,228,867 (-)NCBI
GRCh37X5,808,067 - 6,146,916 (-)NCBI
Build 36X5,818,083 - 6,156,706 (-)NCBI Archive
HuRefX3,686,298 - 4,028,675 (-)NCBI
CHM1_1X5,839,610 - 6,178,287 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274564   ⟹   XP_005274621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,228,878 (-)NCBI
GRCh37X5,808,067 - 6,146,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274565   ⟹   XP_005274622
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,227,198 (-)NCBI
GRCh37X5,808,067 - 6,146,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274566   ⟹   XP_005274623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,226,897 (-)NCBI
GRCh37X5,808,067 - 6,146,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724504   ⟹   XP_006724567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,186,975 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545547   ⟹   XP_011543849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,227,203 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545548   ⟹   XP_011543850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,228,514 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029691   ⟹   XP_016885180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,227,203 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029692   ⟹   XP_016885181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,226,897 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029693   ⟹   XP_016885182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X5,890,042 - 6,226,402 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_851849   ⟸   NM_181332
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065793   ⟸   NM_020742
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274621   ⟸   XM_005274564
- Peptide Label: isoform X1
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274622   ⟸   XM_005274565
- Peptide Label: isoform X1
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274623   ⟸   XM_005274566
- Peptide Label: isoform X1
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269074   ⟸   NM_001282145
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL),   B3KP11 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269075   ⟸   NM_001282146
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL),   A8K4S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724567   ⟸   XM_006724504
- Peptide Label: isoform X1
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543850   ⟸   XM_011545548
- Peptide Label: isoform X1
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543849   ⟸   XM_011545547
- Peptide Label: isoform X1
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885180   ⟸   XM_017029691
- Peptide Label: isoform X2
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885181   ⟸   XM_017029692
- Peptide Label: isoform X2
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885182   ⟸   XM_017029693
- Peptide Label: isoform X2
- UniProtKB: Q8N0W4 (UniProtKB/Swiss-Prot),   A0A024RBV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000493620   ⟸   ENST00000469740
RefSeq Acc Id: ENSP00000495194   ⟸   ENST00000483337
RefSeq Acc Id: ENSP00000439203   ⟸   ENST00000538097
RefSeq Acc Id: ENSP00000275857   ⟸   ENST00000275857
RefSeq Acc Id: ENSP00000370485   ⟸   ENST00000381095
RefSeq Acc Id: ENSP00000370483   ⟸   ENST00000381093
RefSeq Acc Id: ENSP00000370482   ⟸   ENST00000381092
Protein Domains
COesterase

Promoters
RGD ID:13604666
Promoter ID:EPDNEW_H28517
Type:initiation region
Name:NLGN4X_1
Description:neuroligin 4, X-linked
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
GRCh38X6,228,864 - 6,228,924EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181332.3(NLGN4X):c.550A>G (p.Met184Val) single nucleotide variant not provided [RCV000519944] ChrX:6029355 [GRCh38]
ChrX:5947396 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.2129G>A (p.Arg710His) single nucleotide variant not provided [RCV000523559] ChrX:5893139 [GRCh38]
ChrX:5811180 [GRCh37]
ChrX:Xp22.32
uncertain significance
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
NM_181332.3(NLGN4X):c.1185dup (p.Asp396Ter) duplication Asperger syndrome X-linked 2 [RCV000011798]|Autism, susceptibility to, X-linked 2 [RCV000032595] ChrX:5903492..5903493 [GRCh38]
ChrX:5821533..5821534 [GRCh37]
ChrX:Xp22.32
risk factor
NM_181332.3(NLGN4X):c.1252_1253GA[1] (p.Glu418fs) microsatellite Autism, susceptibility to, X-linked 2 [RCV000032596]|Non-syndromic X-linked intellectual disability [RCV000011799] ChrX:5903423..5903424 [GRCh38]
ChrX:5821464..5821465 [GRCh37]
ChrX:Xp22.32
pathogenic|risk factor
nsv513783 deletion Autism, susceptibility to, X-linked 2 [RCV000032597]|Non-syndromic X-linked intellectual disability [RCV000011801] ChrX:Xp22.33 pathogenic|risk factor
NM_181332.2(NLGN4X):c.812-2045G>A single nucleotide variant Lung cancer [RCV000102676] ChrX:5905911 [GRCh38]
ChrX:5823952 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.2(NLGN4X):c.472+3494C>T single nucleotide variant Lung cancer [RCV000102679] ChrX:6147501 [GRCh38]
ChrX:6065542 [GRCh37]
ChrX:Xp22.31
uncertain significance
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: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)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:10679-156013167)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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
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 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 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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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: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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 copy number loss See cases [RCV000053028] ChrX:4557134..10838424 [GRCh38]
ChrX:4475175..10856543 [GRCh37]
ChrX:4485175..10766464 [NCBI36]
ChrX:Xp22.32-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_181332.2(NLGN4X):c.1238A>G (p.Lys413Arg) single nucleotide variant Malignant melanoma [RCV000073229] ChrX:5903440 [GRCh38]
ChrX:5821481 [GRCh37]
ChrX:5831481 [NCBI36]
ChrX:Xp22.32
not provided
NM_181332.2(NLGN4X):c.473-3268G>A single nucleotide variant Malignant melanoma [RCV000073230] ChrX:6032700 [GRCh38]
ChrX:5950741 [GRCh37]
ChrX:5960741 [NCBI36]
ChrX:Xp22.32
not provided
NM_181332.2(NLGN4X):c.302G>A (p.Arg101Gln) single nucleotide variant Malignant melanoma [RCV000073231] ChrX:6151165 [GRCh38]
ChrX:6069206 [GRCh37]
ChrX:6079206 [NCBI36]
ChrX:Xp22.31
not provided
NM_181332.3(NLGN4X):c.2218G>A (p.Asp740Asn) single nucleotide variant not provided [RCV000489479] ChrX:5893050 [GRCh38]
ChrX:5811091 [GRCh37]
ChrX:5821091 [NCBI36]
ChrX:Xp22.32
uncertain significance|not provided
NM_181332.3(NLGN4X):c.105G>A (p.Lys35=) single nucleotide variant not provided [RCV000082029] ChrX:6151362 [GRCh38]
ChrX:6069403 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) single nucleotide variant not provided [RCV000082030] ChrX:6151352 [GRCh38]
ChrX:6069393 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) single nucleotide variant History of neurodevelopmental disorder [RCV000715646]|not specified [RCV000082031] ChrX:5903427 [GRCh38]
ChrX:5821468 [GRCh37]
ChrX:Xp22.32
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_181332.3(NLGN4X):c.1305G>A (p.Thr435=) single nucleotide variant not provided [RCV000082032] ChrX:5903373 [GRCh38]
ChrX:5821414 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1434C>T (p.Ser478=) single nucleotide variant not provided [RCV000082033] ChrX:5903244 [GRCh38]
ChrX:5821285 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) single nucleotide variant Autism, susceptibility to, X-linked 2 [RCV000990468]|History of neurodevelopmental disorder [RCV000715488]|none provided [RCV000999812]|not provided [RCV000949113]|not specified [RCV000082034] ChrX:5893491 [GRCh38]
ChrX:5811532 [GRCh37]
ChrX:Xp22.32
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) single nucleotide variant History of neurodevelopmental disorder [RCV000715473]|none provided [RCV000999811]|not provided [RCV000755324]|not specified [RCV000082035] ChrX:5893489 [GRCh38]
ChrX:5811530 [GRCh37]
ChrX:Xp22.32
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_181332.3(NLGN4X):c.2271G>A (p.Pro757=) single nucleotide variant History of neurodevelopmental disorder [RCV000716531]|not provided [RCV000905745]|not specified [RCV000082036] ChrX:5892997 [GRCh38]
ChrX:5811038 [GRCh37]
ChrX:Xp22.32
benign
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=) single nucleotide variant History of neurodevelopmental disorder [RCV000716552]|not provided [RCV000883600]|not specified [RCV000082037] ChrX:5892988 [GRCh38]
ChrX:5811029 [GRCh37]
ChrX:Xp22.32
benign|likely benign
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=) single nucleotide variant not provided [RCV000415860] ChrX:6151419 [GRCh38]
ChrX:6069460 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=) single nucleotide variant History of neurodevelopmental disorder [RCV000715671]|not provided [RCV000888881]|not specified [RCV000082039] ChrX:6029347 [GRCh38]
ChrX:5947388 [GRCh37]
ChrX:Xp22.32
benign|likely benign
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=) single nucleotide variant not provided [RCV000082040] ChrX:6029326 [GRCh38]
ChrX:5947367 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) single nucleotide variant History of neurodevelopmental disorder [RCV000715489]|not specified [RCV000082041] ChrX:5903745 [GRCh38]
ChrX:5821786 [GRCh37]
ChrX:Xp22.32
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_181332.3(NLGN4X):c.959A>G (p.Asn320Ser) single nucleotide variant not specified [RCV000082042] ChrX:5903719 [GRCh38]
ChrX:5821760 [GRCh37]
ChrX:Xp22.32
likely benign|uncertain significance
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=) single nucleotide variant not provided [RCV000082043] ChrX:5903679 [GRCh38]
ChrX:5821720 [GRCh37]
ChrX:Xp22.32
conflicting interpretations of pathogenicity|uncertain significance
NM_181332.3(NLGN4X):c.54C>T (p.Cys18=) single nucleotide variant not specified [RCV000117821] ChrX:6151413 [GRCh38]
ChrX:6069454 [GRCh37]
ChrX:Xp22.31
benign
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_181332.3(NLGN4X):c.591C>T (p.Ile197=) single nucleotide variant not provided [RCV000971984]|not specified [RCV000177319] ChrX:6029314 [GRCh38]
ChrX:5947355 [GRCh37]
ChrX:Xp22.32
benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
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: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 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.32-22.31(chrX:6052907-6434382)x2 copy number gain See cases [RCV000135931] ChrX:6052907..6434382 [GRCh38]
ChrX:5970948..6352423 [GRCh37]
ChrX:5980948..6362423 [NCBI36]
ChrX:Xp22.32-22.31
uncertain significance
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 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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
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 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 Xp22.33-22.31(chrX:2765636-6317066)x1 copy number loss See cases [RCV000136749] ChrX:2765636..6317066 [GRCh38]
ChrX:2683677..6235107 [GRCh37]
ChrX:2693677..6245107 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.32(chrX:5885166-5914976)x0 copy number loss See cases [RCV000137484] ChrX:5885166..5914976 [GRCh38]
ChrX:5803207..5833017 [GRCh37]
ChrX:5813207..5843017 [NCBI36]
ChrX:Xp22.32
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.32-22.31(chrX:5134933-6124962)x2 copy number gain See cases [RCV000137845] ChrX:5134933..6124962 [GRCh38]
ChrX:5052974..6043003 [GRCh37]
ChrX:5062974..6053003 [NCBI36]
ChrX:Xp22.32-22.31
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:6220493-7169709)x3 copy number gain See cases [RCV000138320] ChrX:6220493..7169709 [GRCh38]
ChrX:6138534..7087750 [GRCh37]
ChrX:6148534..7097750 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
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 Xp22.31(chrX:6100591-6104650)x1 copy number loss See cases [RCV000140494] ChrX:6100591..6104650 [GRCh38]
ChrX:6018632..6022691 [GRCh37]
ChrX:6028632..6032691 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.32-22.31(chrX:5982467-6100650)x0 copy number loss See cases [RCV000140850] ChrX:5982467..6100650 [GRCh38]
ChrX:5900508..6018691 [GRCh37]
ChrX:5910508..6028691 [NCBI36]
ChrX:Xp22.32-22.31
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 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:2790845-6495923)x0 copy number loss See cases [RCV000142746] ChrX:2790845..6495923 [GRCh38]
ChrX:2708886..6413964 [GRCh37]
ChrX:2718886..6423964 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.32-22.31(chrX:6064555-7331311)x3 copy number gain See cases [RCV000143163] ChrX:6064555..7331311 [GRCh38]
ChrX:5982596..7249352 [GRCh37]
ChrX:5992596..7259352 [NCBI36]
ChrX:Xp22.32-22.31
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6209399-6531518)x3 copy number gain See cases [RCV000143735] ChrX:6209399..6531518 [GRCh38]
ChrX:6127440..6449559 [GRCh37]
ChrX:6137440..6459559 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31(chrX:6199640-6531796)x3 copy number gain See cases [RCV000143649] ChrX:6199640..6531796 [GRCh38]
ChrX:6117681..6449837 [GRCh37]
ChrX:6127681..6459837 [NCBI36]
ChrX:Xp22.31
uncertain significance
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
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
NM_181332.3(NLGN4X):c.1564G>A (p.Val522Met) single nucleotide variant not provided [RCV000153578] ChrX:5903114 [GRCh38]
ChrX:5821155 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1476G>A (p.Glu492=) single nucleotide variant not provided [RCV000153579] ChrX:5903202 [GRCh38]
ChrX:5821243 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1470T>C (p.Gly490=) single nucleotide variant not provided [RCV000153580] ChrX:5903208 [GRCh38]
ChrX:5821249 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.516C>T (p.Ile172=) single nucleotide variant not provided [RCV000153039] ChrX:6029389 [GRCh38]
ChrX:5947430 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.250G>A (p.Gly84Arg) single nucleotide variant not provided [RCV000175929] ChrX:6151217 [GRCh38]
ChrX:6069258 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_181332.3(NLGN4X):c.1111G>A (p.Val371Ile) single nucleotide variant not provided [RCV000178977] ChrX:5903567 [GRCh38]
ChrX:5821608 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.935C>T (p.Thr312Met) single nucleotide variant not provided [RCV000178978] ChrX:5903743 [GRCh38]
ChrX:5821784 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1748G>A (p.Arg583Gln) single nucleotide variant not provided [RCV000179515] ChrX:5893520 [GRCh38]
ChrX:5811561 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1674C>T (p.Ala558=) single nucleotide variant not provided [RCV000179516] ChrX:5893594 [GRCh38]
ChrX:5811635 [GRCh37]
ChrX:Xp22.32
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
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_181332.3(NLGN4X):c.1887C>T (p.Pro629=) single nucleotide variant not specified [RCV000192566] ChrX:5893381 [GRCh38]
ChrX:5811422 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met) single nucleotide variant not provided [RCV000912166]|not specified [RCV000193773] ChrX:5892908 [GRCh38]
ChrX:5810949 [GRCh37]
ChrX:Xp22.32
benign|uncertain significance
NM_181332.3(NLGN4X):c.2361G>A (p.Thr787=) single nucleotide variant not specified [RCV000194673] ChrX:5892907 [GRCh38]
ChrX:5810948 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.31(chrX:6118522-6405679)x3 copy number gain See cases [RCV000203441] ChrX:6118522..6405679 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_181332.3(NLGN4X):c.1747C>T (p.Arg583Trp) single nucleotide variant Inborn genetic diseases [RCV000622586] ChrX:5893521 [GRCh38]
ChrX:5811562 [GRCh37]
ChrX:Xp22.32
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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 Xp22.31(chrX:6134766-7023927)x3 copy number gain See cases [RCV000239903] ChrX:6134766..7023927 [GRCh37]
ChrX:Xp22.31
uncertain significance
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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_181332.3(NLGN4X):c.2128C>A (p.Arg710Ser) single nucleotide variant not provided [RCV000519785] ChrX:5893140 [GRCh38]
ChrX:5811181 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
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_181332.3(NLGN4X):c.1216C>A (p.Leu406Ile) single nucleotide variant not provided [RCV000271352] ChrX:5903462 [GRCh38]
ChrX:5821503 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.2259G>C (p.Arg753Ser) single nucleotide variant Asperger syndrome X-linked 2 [RCV000678276]|not provided [RCV000274385] ChrX:5893009 [GRCh38]
ChrX:5811050 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.971A>G (p.Lys324Arg) single nucleotide variant not provided [RCV000381488] ChrX:5903707 [GRCh38]
ChrX:5821748 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.2223C>T (p.His741=) single nucleotide variant History of neurodevelopmental disorder [RCV000715924]|not specified [RCV000278455] ChrX:5893045 [GRCh38]
ChrX:5811086 [GRCh37]
ChrX:Xp22.32
benign|likely benign
NM_181332.3(NLGN4X):c.2226G>A (p.Glu742=) single nucleotide variant not specified [RCV000353788] ChrX:5893042 [GRCh38]
ChrX:5811083 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.476T>C (p.Ile159Thr) single nucleotide variant not provided [RCV000361274] ChrX:6029429 [GRCh38]
ChrX:5947470 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.949T>C (p.Cys317Arg) single nucleotide variant not provided [RCV000488305] ChrX:5903729 [GRCh38]
ChrX:5821770 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1042G>A (p.Val348Ile) single nucleotide variant not provided [RCV000597856] ChrX:5903636 [GRCh38]
ChrX:5821677 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1879C>T (p.Arg627Ter) single nucleotide variant Inborn genetic diseases [RCV000624357]|Intellectual disability [RCV001257610] ChrX:5893389 [GRCh38]
ChrX:5811430 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter) single nucleotide variant Autism, susceptibility to, X-linked 2 [RCV000415088] ChrX:6151166 [GRCh38]
ChrX:6069207 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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 Xp22.31(chrX:6056860-6449837)x3 copy number gain See cases [RCV000449146] ChrX:6056860..6449837 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.32-22.31(chrX:5881943-6455151)x2 copy number gain See cases [RCV000446080] ChrX:5881943..6455151 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
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
NM_181332.3(NLGN4X):c.281C>T (p.Pro94Leu) single nucleotide variant not provided [RCV000427547] ChrX:6151186 [GRCh38]
ChrX:6069227 [GRCh37]
ChrX:Xp22.31
uncertain significance
NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg) single nucleotide variant Autism, susceptibility to, X-linked 2 [RCV000680049] ChrX:5892840 [GRCh38]
ChrX:5810881 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) single nucleotide variant History of neurodevelopmental disorder [RCV000719543]|not provided [RCV000431586] ChrX:5903781 [GRCh38]
ChrX:5821822 [GRCh37]
ChrX:Xp22.32
benign|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 Xp22.33-22.31(chrX:3711398-9389098)x0 copy number loss See cases [RCV000447912] ChrX:3711398..9389098 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.31(chrX:6052055-6449234)x2 copy number gain See cases [RCV000448407] ChrX:6052055..6449234 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.1327C>G (p.Leu443Val) single nucleotide variant not provided [RCV000486782] ChrX:5903351 [GRCh38]
ChrX:5821392 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_181332.3(NLGN4X):c.1380C>T (p.His460=) single nucleotide variant not specified [RCV000501055] ChrX:5903298 [GRCh38]
ChrX:5821339 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.2128C>T (p.Arg710Cys) single nucleotide variant not specified [RCV000499399] ChrX:5893140 [GRCh38]
ChrX:5811181 [GRCh37]
ChrX:Xp22.32
uncertain significance
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_181332.3(NLGN4X):c.50T>C (p.Val17Ala) single nucleotide variant not provided [RCV000497444] ChrX:6151417 [GRCh38]
ChrX:6069458 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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_181332.3(NLGN4X):c.955C>A (p.Arg319=) single nucleotide variant not provided [RCV000901994]|not specified [RCV000502789] ChrX:5903723 [GRCh38]
ChrX:5821764 [GRCh37]
ChrX:Xp22.32
benign|likely benign
GRCh37/hg19 Xp22.31(chrX:6092708-6140177)x1 copy number loss See cases [RCV000510241] ChrX:6092708..6140177 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.2078T>C (p.Phe693Ser) single nucleotide variant not provided [RCV000493594] ChrX:5893190 [GRCh38]
ChrX:5811231 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7721374)x1 copy number loss See cases [RCV000511828] ChrX:168546..7721374 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_181332.3(NLGN4X):c.1874C>T (p.Thr625Ile) single nucleotide variant not provided [RCV000492951] ChrX:5893394 [GRCh38]
ChrX:5811435 [GRCh37]
ChrX:Xp22.32
uncertain significance
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 Xp22.33-22.32(chrX:168546-5896155)x1 copy number loss See cases [RCV000510877] ChrX:168546..5896155 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.31(chrX:6053322-6671662)x3 copy number gain See cases [RCV000511077] ChrX:6053322..6671662 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.1898G>A (p.Trp633Ter) single nucleotide variant not provided [RCV000579065] ChrX:5893370 [GRCh38]
ChrX:5811411 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.-306+359G>A single nucleotide variant not specified [RCV000594643] ChrX:6228182 [GRCh38]
ChrX:6146223 [GRCh37]
ChrX:Xp22.31
benign
NM_181332.3(NLGN4X):c.2324C>T (p.Thr775Met) single nucleotide variant History of neurodevelopmental disorder [RCV000719321]|Inborn genetic diseases [RCV000624542] ChrX:5892944 [GRCh38]
ChrX:5810985 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1054G>A (p.Asp352Asn) single nucleotide variant Inborn genetic diseases [RCV000624860] ChrX:5903624 [GRCh38]
ChrX:5821665 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.1133A>G (p.Lys378Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000715532]|not provided [RCV000880183] ChrX:5903545 [GRCh38]
ChrX:5821586 [GRCh37]
ChrX:Xp22.32
benign|likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:3649821-6645906)x0 copy number loss not provided [RCV000684237] ChrX:3649821..6645906 [GRCh37]
ChrX:Xp22.33-22.31
likely pathogenic
GRCh37/hg19 Xp22.32-22.31(chrX:5992059-6455151)x3 copy number gain not provided [RCV000684239] ChrX:5992059..6455151 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6053322-6676850)x2 copy number gain not provided [RCV000684240] ChrX:6053322..6676850 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6140176-6455517)x2 copy number gain not provided [RCV000684241] ChrX:6140176..6455517 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.32-22.31(chrX:5677732-6225609)x3 copy number gain not provided [RCV000684238] ChrX:5677732..6225609 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
NM_181332.3(NLGN4X):c.560G>A (p.Gly187Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000717420] ChrX:6029345 [GRCh38]
ChrX:5947386 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.1545C>T (p.Asn515=) single nucleotide variant History of neurodevelopmental disorder [RCV000717942] ChrX:5903133 [GRCh38]
ChrX:5821174 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.1480C>G (p.Pro494Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000718114] ChrX:5903198 [GRCh38]
ChrX:5821239 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1641T>C (p.Ile547=) single nucleotide variant History of neurodevelopmental disorder [RCV000719237] ChrX:5893627 [GRCh38]
ChrX:5811668 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.1360G>A (p.Val454Met) single nucleotide variant History of neurodevelopmental disorder [RCV000721069] ChrX:5903318 [GRCh38]
ChrX:5821359 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1880G>A (p.Arg627Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000719207] ChrX:5893388 [GRCh38]
ChrX:5811429 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1144G>A (p.Gly382Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719253] ChrX:5903534 [GRCh38]
ChrX:5821575 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.31(chrX:6006157-6451799)x3 copy number gain not provided [RCV000753329] ChrX:6006157..6451799 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_181332.3(NLGN4X):c.1544A>G (p.Asn515Ser) single nucleotide variant not specified [RCV000736072] ChrX:5903134 [GRCh38]
ChrX:5821175 [GRCh37]
ChrX:Xp22.32
likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1 copy number loss not provided [RCV000753270] ChrX:60262..7807206 [GRCh37]
ChrX:Xp22.33-22.31
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 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
NC_000023.11:g.(?_4692064)_(6048196_?)del deletion Autistic disorder of childhood onset [RCV000754373] ChrX:4692064..6048196 [GRCh38]
ChrX:Xp22.32
likely 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_181332.3(NLGN4X):c.1020C>T (p.Phe340=) single nucleotide variant not provided [RCV000881603] ChrX:5903658 [GRCh38]
ChrX:5821699 [GRCh37]
ChrX:Xp22.32
benign
NM_181332.3(NLGN4X):c.1197G>C (p.Val399=) single nucleotide variant not provided [RCV000925795] ChrX:5903481 [GRCh38]
ChrX:5821522 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.1977G>C (p.Glu659Asp) single nucleotide variant not provided [RCV000921747] ChrX:5893291 [GRCh38]
ChrX:5811332 [GRCh37]
ChrX:Xp22.32
benign
NM_181332.3(NLGN4X):c.1482C>T (p.Pro494=) single nucleotide variant not provided [RCV000923804] ChrX:5903196 [GRCh38]
ChrX:5821237 [GRCh37]
ChrX:Xp22.32
likely benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0 copy number loss See cases [RCV001007410] ChrX:60814..6043278 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_181332.3(NLGN4X):c.387C>T (p.Thr129=) single nucleotide variant not provided [RCV000914810] ChrX:6151080 [GRCh38]
ChrX:6069121 [GRCh37]
ChrX:Xp22.31
benign
NM_181332.3(NLGN4X):c.1356C>T (p.Pro452=) single nucleotide variant not provided [RCV000898777] ChrX:5903322 [GRCh38]
ChrX:5821363 [GRCh37]
ChrX:Xp22.32
benign
NM_181332.3(NLGN4X):c.282G>A (p.Pro94=) single nucleotide variant not provided [RCV000936179] ChrX:6151185 [GRCh38]
ChrX:6069226 [GRCh37]
ChrX:Xp22.31
likely benign
NM_181332.3(NLGN4X):c.81G>A (p.Leu27=) single nucleotide variant not provided [RCV000914189] ChrX:6151386 [GRCh38]
ChrX:6069427 [GRCh37]
ChrX:Xp22.31
likely benign
NM_181332.3(NLGN4X):c.1661T>C (p.Phe554Ser) single nucleotide variant Autism, susceptibility to, X-linked 2 [RCV001029790] ChrX:5893607 [GRCh38]
ChrX:5811648 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333441)x0 copy number loss not provided [RCV000849103] ChrX:3185613..6333441 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6053476-6671970)x3 copy number gain not provided [RCV000848148] ChrX:6053476..6671970 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6075186-6122573)x3 copy number gain not provided [RCV000849933] ChrX:6075186..6122573 [GRCh37]
ChrX:Xp22.31
uncertain significance
NC_000023.11:g.(?_5892817)_(6383998_?)del deletion not provided [RCV000821290] ChrX:5892817..6383998 [GRCh38]
ChrX:5810858..6302039 [GRCh37]
ChrX:Xp22.32-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_181332.3(NLGN4X):c.473-12dup duplication not provided [RCV000999312] ChrX:6029436..6029437 [GRCh38]
ChrX:5947477..5947478 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NC_000023.10:g.(?_5810858)_(6302039_?)dup duplication not provided [RCV000794823] ChrX:5892817..6383998 [GRCh38]
ChrX:5810858..6302039 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.32-22.31(chrX:5463480-6035312)x2 copy number gain not provided [RCV000846053] ChrX:5463480..6035312 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.32-22.31(chrX:5871585-6074724)x0 copy number loss not provided [RCV001007243] ChrX:5871585..6074724 [GRCh37]
ChrX:Xp22.32-22.31
likely pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_181332.3(NLGN4X):c.71A>G (p.Asn24Ser) single nucleotide variant not provided [RCV000999313] ChrX:6151396 [GRCh38]
ChrX:6069437 [GRCh37]
ChrX:Xp22.31
likely benign
NM_181332.3(NLGN4X):c.1284C>T (p.Ala428=) single nucleotide variant not provided [RCV000885841] ChrX:5903394 [GRCh38]
ChrX:5821435 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.2049G>A (p.Ala683=) single nucleotide variant not provided [RCV000894945] ChrX:5893219 [GRCh38]
ChrX:5811260 [GRCh37]
ChrX:Xp22.32
benign
NM_181332.3(NLGN4X):c.1341C>T (p.His447=) single nucleotide variant not provided [RCV000886055] ChrX:5903337 [GRCh38]
ChrX:5821378 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.1569C>G (p.Val523=) single nucleotide variant not provided [RCV000908490] ChrX:5903109 [GRCh38]
ChrX:5821150 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.2178C>T (p.Asn726=) single nucleotide variant not provided [RCV000916857] ChrX:5893090 [GRCh38]
ChrX:5811131 [GRCh37]
ChrX:Xp22.32
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.1194C>A (p.Ser398=) single nucleotide variant not provided [RCV001226878] ChrX:5903484 [GRCh38]
ChrX:5821525 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.639C>T (p.Thr213=) single nucleotide variant not provided [RCV000934686] ChrX:5909226 [GRCh38]
ChrX:5827267 [GRCh37]
ChrX:Xp22.32
likely benign
NM_181332.3(NLGN4X):c.2297G>A (p.Arg766Gln) single nucleotide variant not provided [RCV000999311] ChrX:5892971 [GRCh38]
ChrX:5811012 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.32(chrX:5912902-5994585)x1 copy number loss not provided [RCV001007244] ChrX:5912902..5994585 [GRCh37]
ChrX:Xp22.32
likely pathogenic
NM_181332.3(NLGN4X):c.2284C>G (p.Leu762Val) single nucleotide variant Intellectual disability [RCV001030828] ChrX:5892984 [GRCh38]
ChrX:5811025 [GRCh37]
ChrX:Xp22.32
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1 copy number loss not provided [RCV001007201] ChrX:168546..6449753 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_181332.3(NLGN4X):c.1477G>A (p.Val493Ile) single nucleotide variant not provided [RCV001093286] ChrX:5903201 [GRCh38]
ChrX:5821242 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2 copy number gain not provided [RCV001007197] ChrX:1..7810731 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_181332.3(NLGN4X):c.2080G>A (p.Ala694Thr) single nucleotide variant Autism, susceptibility to, X-linked 2 [RCV001253359] ChrX:5893188 [GRCh38]
ChrX:5811229 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333434)x1 copy number loss not provided [RCV001258998] ChrX:3185613..6333434 [GRCh37]
ChrX:Xp22.33-22.31
likely pathogenic
NM_181332.3(NLGN4X):c.872A>G (p.Tyr291Cys) single nucleotide variant Autism, susceptibility to, X-linked 2 [RCV001332348] ChrX:5903806 [GRCh38]
ChrX:5821847 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1796A>G (p.Asn599Ser) single nucleotide variant Inborn genetic diseases [RCV001266161] ChrX:5893472 [GRCh38]
ChrX:5811513 [GRCh37]
ChrX:Xp22.32
uncertain significance
GRCh37/hg19 Xp22.32-22.31(chrX:5546876-6000282)x3 copy number gain not provided [RCV001260020] ChrX:5546876..6000282 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
GRCh37/hg19 Xp22.32-22.31(chrX:5975976-6659291)x3 copy number gain not provided [RCV001260021] ChrX:5975976..6659291 [GRCh37]
ChrX:Xp22.32-22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_181332.3(NLGN4X):c.1812C>A (p.Phe604Leu) single nucleotide variant not provided [RCV001370387] ChrX:5893456 [GRCh38]
ChrX:5811497 [GRCh37]
ChrX:Xp22.32
uncertain significance
NM_181332.3(NLGN4X):c.1601+4C>T single nucleotide variant not provided [RCV001318255] ChrX:5903073 [GRCh38]
ChrX:5821114 [GRCh37]
ChrX:Xp22.32
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14287 AgrOrtholog
COSMIC NLGN4X COSMIC
Ensembl Genes ENSG00000146938 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000275857 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370482 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370483 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439203 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493620 UniProtKB/TrEMBL
  ENSP00000495194 UniProtKB/TrEMBL
Ensembl Transcript ENST00000275857 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381092 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381093 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000469740 UniProtKB/TrEMBL
  ENST00000483337 UniProtKB/TrEMBL
  ENST00000538097 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000146938 GTEx
HGNC ID HGNC:14287 ENTREZGENE
Human Proteome Map NLGN4X Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbesteraseB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxylesterase_B_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nlgn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLGN4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57502 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57502 ENTREZGENE
OMIM 300427 OMIM
  300495 OMIM
  300497 OMIM
PANTHER PTHR43903:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COesterase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31650 PharmGKB
PRINTS NEUROLIGIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARBOXYLESTERASE_B_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBV0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y6F7_HUMAN UniProtKB/TrEMBL
  A0A2R8YCI5_HUMAN UniProtKB/TrEMBL
  A8K4S1 ENTREZGENE, UniProtKB/TrEMBL
  B3KP11 ENTREZGENE, UniProtKB/TrEMBL
  NLGNX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6UX10 UniProtKB/Swiss-Prot
  Q9ULG0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 NLGN4X  neuroligin 4 X-linked  NLGN4X  neuroligin 4, X-linked  Symbol and/or name change 5135510 APPROVED