CLCN4 (chloride voltage-gated channel 4) - Rat Genome Database

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Gene: CLCN4 (chloride voltage-gated channel 4) Homo sapiens
Analyze
Symbol: CLCN4
Name: chloride voltage-gated channel 4
RGD ID: 1342594
HGNC Page HGNC
Description: Exhibits antiporter activity and chloride channel activity. Involved in chloride transport. Localizes to endoplasmic reticulum membrane; endosome; and lysosomal membrane. Implicated in Raynaud-Claes syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chloride channel 4; chloride channel protein 4; chloride channel, voltage-sensitive 4; chloride transporter ClC-4; ClC-4; ClC-4A; CLC4; H(+)/Cl(-) exchange transporter 4; mental retardation, X-linked 15; mental retardation, X-linked 49; MGC163150; MRX15; MRX49; MRXSRC
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 EnsemblX10,156,945 - 10,237,660 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX10,156,975 - 10,237,660 (+)EnsemblGRCh38hg38GRCh38
GRCh38X10,156,975 - 10,237,660 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X10,125,015 - 10,205,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X10,084,985 - 10,165,700 (+)NCBINCBI36hg18NCBI36
Build 34X9,934,772 - 10,013,256NCBI
CeleraX14,296,240 - 14,376,955 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX7,954,825 - 8,038,622 (+)NCBIHuRef
CHM1_1X10,155,417 - 10,236,107 (+)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
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
chlordecone  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (ISO)
dexamethasone  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethylbenzene  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
furan  (ISO)
glafenine  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
methapyrilene  (ISO)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
omeprazole  (ISO)
parathion  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
raloxifene  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Behavioral abnormality  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Broad nasal tip  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Coarse facial features  (IAGP)
Cryptorchidism  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Depressivity  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
EEG with focal spikes  (IAGP)
Epileptic encephalopathy  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal tonic seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Myoclonus  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Periorbital fullness  (IAGP)
Periventricular leukomalacia  (IAGP)
Pes planus  (IAGP)
Pointed chin  (IAGP)
Poor speech  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Pyloric stenosis  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Strabismus  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Unsteady gait  (IAGP)
Upper limb spasticity  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7759088   PMID:8069296   PMID:8125298   PMID:8619474   PMID:8661129   PMID:MRX15   PMID:9110174   PMID:MRX49   PMID:10198195   PMID:10564087   PMID:12477932   PMID:15057754  
PMID:15342556   PMID:16034421   PMID:16034422   PMID:16129671   PMID:16176272   PMID:17023393   PMID:19364886   PMID:19546591   PMID:20087350   PMID:21354396   PMID:21873635   PMID:23647072  
PMID:25644381   PMID:27550844   PMID:28972156   PMID:29507755   PMID:32296183  


Genomics

Comparative Map Data
CLCN4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX10,156,945 - 10,237,660 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX10,156,975 - 10,237,660 (+)EnsemblGRCh38hg38GRCh38
GRCh38X10,156,975 - 10,237,660 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X10,125,015 - 10,205,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X10,084,985 - 10,165,700 (+)NCBINCBI36hg18NCBI36
Build 34X9,934,772 - 10,013,256NCBI
CeleraX14,296,240 - 14,376,955 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX7,954,825 - 8,038,622 (+)NCBIHuRef
CHM1_1X10,155,417 - 10,236,107 (+)NCBICHM1_1
Clcn4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3977,285,308 - 7,303,915 (-)NCBIGRCm39mm39
GRCm39 Ensembl77,285,308 - 7,303,850 (-)Ensembl
GRCm3877,282,309 - 7,300,916 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl77,282,309 - 7,300,851 (-)EnsemblGRCm38mm10GRCm38
MGSCv3777,235,027 - 7,252,222 (-)NCBIGRCm37mm9NCBIm37
MGSCv3676,887,494 - 6,902,833 (-)NCBImm8
MGSCv3676,634,944 - 6,651,482 (-)NCBImm8
Cytogenetic Map7A1NCBI
cM Map74.23NCBI
Clcn4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X23,729,194 - 23,795,391 (+)NCBI
Rnor_6.0 EnsemblX25,016,401 - 25,080,410 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X25,016,177 - 25,082,563 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X25,427,399 - 25,493,756 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X44,355,648 - 44,419,524 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X44,436,114 - 44,471,196 (+)NCBI
CeleraX24,157,917 - 24,221,792 (+)NCBICelera
Cytogenetic MapXq13NCBI
Clcn4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555442,922,338 - 3,000,112 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555442,922,338 - 2,999,979 (-)NCBIChiLan1.0ChiLan1.0
CLCN4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X10,040,067 - 10,120,991 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX10,040,067 - 10,120,991 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X2,787,185 - 2,867,846 (+)NCBIMhudiblu_PPA_v0panPan3
CLCN4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X6,853,184 - 6,921,478 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX6,854,728 - 6,917,594 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX6,809,155 - 6,878,437 (+)NCBI
ROS_Cfam_1.0X6,799,857 - 6,868,917 (+)NCBI
UMICH_Zoey_3.1X6,790,241 - 6,854,866 (+)NCBI
UNSW_CanFamBas_1.0X6,825,444 - 6,894,478 (+)NCBI
UU_Cfam_GSD_1.0X6,815,874 - 6,884,896 (+)NCBI
Clcn4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X142,869 - 215,738 (+)NCBI
SpeTri2.0NW_004936470142,862 - 214,993 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLCN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX6,939,387 - 7,019,738 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X6,939,637 - 7,019,745 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X7,339,448 - 7,419,589 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLCN4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X8,611,443 - 8,692,944 (+)NCBI
ChlSab1.1 EnsemblX8,611,485 - 8,693,192 (+)Ensembl
Clcn4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248824,080,525 - 4,148,749 (-)NCBI

Position Markers
DXS7108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,192,237 - 10,192,484UniSTSGRCh37
Build 36X10,152,237 - 10,152,484RGDNCBI36
CeleraX14,363,492 - 14,363,739RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,025,038 - 8,025,285UniSTS
Marshfield Genetic MapX18.37RGD
Marshfield Genetic MapX18.37UniSTS
Genethon Genetic MapX18.5UniSTS
Whitehead-YAC Contig MapX UniSTS
STS-AA018252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,162,981 - 10,163,107UniSTSGRCh37
Build 36X10,122,981 - 10,123,107RGDNCBI36
CeleraX14,334,237 - 14,334,363RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,993,086 - 7,993,212UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
A004U24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,205,456 - 10,205,634UniSTSGRCh37
Build 36X10,165,456 - 10,165,634RGDNCBI36
CeleraX14,376,711 - 14,376,889RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,038,378 - 8,038,556UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
Whitehead-RH MapX6.1UniSTS
NCBI RH MapX10.0UniSTS
SHGC-78004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,143,018 - 10,143,367UniSTSGRCh37
Build 36X10,103,018 - 10,103,367RGDNCBI36
CeleraX14,314,264 - 14,314,613RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,972,820 - 7,973,169UniSTS
G60164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,199,628 - 10,199,898UniSTSGRCh37
Build 36X10,159,628 - 10,159,898RGDNCBI36
CeleraX14,370,883 - 14,371,153RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,032,429 - 8,032,699UniSTS
A008T30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,204,176 - 10,204,380UniSTSGRCh37
Build 36X10,164,176 - 10,164,380RGDNCBI36
CeleraX14,375,431 - 14,375,635RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,037,098 - 8,037,302UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
G20389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,203,865 - 10,203,967UniSTSGRCh37
Build 36X10,163,865 - 10,163,967RGDNCBI36
CeleraX14,375,120 - 14,375,222RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,036,787 - 8,036,889UniSTS
A005P03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,203,865 - 10,203,967UniSTSGRCh37
Build 36X10,163,865 - 10,163,967RGDNCBI36
CeleraX14,375,120 - 14,375,222RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,036,787 - 8,036,889UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
DXS6975E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,126,338 - 10,126,431UniSTSGRCh37
Build 36X10,086,338 - 10,086,431RGDNCBI36
CeleraX14,297,593 - 14,297,686RGD
Cytogenetic MapXp22.3UniSTS
HuRefX7,956,178 - 7,956,271UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
STS-X77197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,201,802 - 10,202,016UniSTSGRCh37
Build 36X10,161,802 - 10,162,016RGDNCBI36
CeleraX14,373,057 - 14,373,271RGD
Cytogenetic MapXp22.3UniSTS
HuRefX8,034,724 - 8,034,938UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
CLCN4_3951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,201,942 - 10,202,865UniSTSGRCh37
Build 36X10,161,942 - 10,162,865RGDNCBI36
CeleraX14,373,197 - 14,374,120RGD
HuRefX8,034,864 - 8,035,787UniSTS
CLCN4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,176,246 - 10,176,437UniSTSGRCh37
CeleraX14,347,501 - 14,347,692UniSTS
HuRefX8,009,768 - 8,009,959UniSTS
HuRefX8,005,808 - 8,005,999UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1998
Count of miRNA genes:1027
Interacting mature miRNAs:1229
Transcripts:ENST00000380829, ENST00000380833, ENST00000421085, ENST00000454850
Prediction methods: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
Medium 25 133 219 24 150 21 831 838 2294 58 85 147 6 1 769
Low 2052 2425 1486 590 1206 435 3398 1228 1435 346 1307 1447 167 1184 1987 2 1
Below cutoff 349 427 18 9 531 9 119 123 3 14 59 11 1 20 32 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB019432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF170492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP310547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380829   ⟹   ENSP00000370209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,158,448 - 10,233,697 (+)Ensembl
RefSeq Acc Id: ENST00000380833   ⟹   ENSP00000370213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,156,975 - 10,237,660 (+)Ensembl
RefSeq Acc Id: ENST00000421085   ⟹   ENSP00000405754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,156,945 - 10,237,660 (+)Ensembl
RefSeq Acc Id: ENST00000454850   ⟹   ENSP00000403064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,158,532 - 10,206,719 (+)Ensembl
RefSeq Acc Id: ENST00000674669   ⟹   ENSP00000501922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,158,500 - 10,233,720 (+)Ensembl
RefSeq Acc Id: ENST00000674959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,186,361 - 10,187,916 (+)Ensembl
RefSeq Acc Id: ENST00000675144   ⟹   ENSP00000501600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,158,496 - 10,234,633 (+)Ensembl
RefSeq Acc Id: ENST00000675769   ⟹   ENSP00000502110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,158,481 - 10,234,746 (+)Ensembl
RefSeq Acc Id: NM_001256944   ⟹   NP_001243873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,156,975 - 10,237,660 (+)NCBI
GRCh37X10,124,985 - 10,205,700 (+)NCBI
HuRefX7,954,825 - 8,038,622 (+)NCBI
CHM1_1X10,155,417 - 10,236,107 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001830   ⟹   NP_001821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,156,975 - 10,237,660 (+)NCBI
GRCh37X10,124,985 - 10,205,700 (+)ENTREZGENE
Build 36X10,084,985 - 10,165,700 (+)NCBI Archive
HuRefX7,954,825 - 8,038,622 (+)ENTREZGENE
CHM1_1X10,155,417 - 10,236,107 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001821   ⟸   NM_001830
- Peptide Label: isoform 1
- UniProtKB: P51793 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243873   ⟸   NM_001256944
- Peptide Label: isoform 2
- UniProtKB: P51793 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000403064   ⟸   ENST00000454850
RefSeq Acc Id: ENSP00000370209   ⟸   ENST00000380829
RefSeq Acc Id: ENSP00000370213   ⟸   ENST00000380833
RefSeq Acc Id: ENSP00000405754   ⟸   ENST00000421085
RefSeq Acc Id: ENSP00000501922   ⟸   ENST00000674669
RefSeq Acc Id: ENSP00000502110   ⟸   ENST00000675769
RefSeq Acc Id: ENSP00000501600   ⟸   ENST00000675144
Protein Domains
CBS

Promoters
RGD ID:6808574
Promoter ID:HG_KWN:65968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000380833
Position:
Human AssemblyChrPosition (strand)Source
Build 36X10,084,739 - 10,085,239 (+)MPROMDB
RGD ID:6808579
Promoter ID:HG_KWN:65969
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000380829,   OTTHUMT00000055731
Position:
Human AssemblyChrPosition (strand)Source
Build 36X10,086,201 - 10,086,701 (+)MPROMDB
RGD ID:13604708
Promoter ID:EPDNEW_H28538
Type:initiation region
Name:CLCN4_2
Description:chloride voltage-gated channel 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28539  EPDNEW_H28540  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,156,835 - 10,156,895EPDNEW
RGD ID:13604710
Promoter ID:EPDNEW_H28539
Type:initiation region
Name:CLCN4_1
Description:chloride voltage-gated channel 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28538  EPDNEW_H28540  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,156,984 - 10,157,044EPDNEW
RGD ID:13604712
Promoter ID:EPDNEW_H28540
Type:initiation region
Name:CLCN4_3
Description:chloride voltage-gated channel 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28538  EPDNEW_H28539  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,158,468 - 10,158,528EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) single nucleotide variant Mental retardation 49, X-linked [RCV001291793] ChrX:10208145 [GRCh38]
ChrX:10176185 [GRCh37]
ChrX:Xp22.2
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_001830.4(CLCN4):c.1862A>G (p.Asp621Gly) single nucleotide variant not provided [RCV000519876] ChrX:10213966 [GRCh38]
ChrX:10182006 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) single nucleotide variant Mental retardation 49, X-linked [RCV000087143]|not provided [RCV000520512] ChrX:10213734 [GRCh38]
ChrX:10181774 [GRCh37]
ChrX:Xp22.2
pathogenic|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 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: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 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
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: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 Xp22.31-22.2(chrX:8327550-10980235)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] ChrX:8327550..10980235 [GRCh38]
ChrX:8295591..10998355 [GRCh37]
ChrX:8255591..10908276 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
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-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 Xp22.33-11.23(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-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 Xp22.33-22.2(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 Xp22.33-22.11(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 Xp22.33-11.1(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 Xp22.32-22.2(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-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 Xp22.33-11.21(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 Xp22.33-22.2(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 Xp22.33-22.12(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 Xp22.33-11.22(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
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) single nucleotide variant not provided [RCV000087194] ChrX:10220868 [GRCh38]
ChrX:10188908 [GRCh37]
ChrX:Xp22.2
likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) single nucleotide variant not provided [RCV000079722] ChrX:10212580 [GRCh38]
ChrX:10180620 [GRCh37]
ChrX:Xp22.2
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
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-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 Xp22.33-11.22(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: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)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-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 Xp22.33-11.23(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-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 Xp22.33-11.21(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-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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp22.33-21.1(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 Xp22.2(chrX:10181602-10812117)x2 copy number gain See cases [RCV000135604] ChrX:10181602..10812117 [GRCh38]
ChrX:10149642..10830236 [GRCh37]
ChrX:10109642..10740157 [NCBI36]
ChrX:Xp22.2
uncertain significance
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-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 Xp22.33-22.2(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-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 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-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-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 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 Xp22.33-22.2(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: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 Xp22.33-11.23(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 Xp22.33-21.1(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 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
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 Xp22.33-11.1(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 Xp22.33-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 Xp22.33-11.4(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: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 Xp22.33-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 Xp22.33-11.22(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-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 Xp22.33-22.2(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-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-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 Xp22.33-21.1(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 Xp22.33-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_001830.4(CLCN4):c.2043C>T (p.Pro681=) single nucleotide variant not specified [RCV000193033] ChrX:10220728 [GRCh38]
ChrX:10188768 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001830.4(CLCN4):c.1630G>C (p.Gly544Arg) single nucleotide variant CLCN4-related disorder [RCV000239727] ChrX:10213734 [GRCh38]
ChrX:10181774 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10187807-10189796) copy number loss CLCN4-related disorder [RCV000239749] ChrX:10187807..10189796 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.1389+5G>A single nucleotide variant CLCN4-related disorder [RCV000239731]|not provided [RCV000999316] ChrX:10208595 [GRCh38]
ChrX:10176635 [GRCh37]
ChrX:Xp22.2
pathogenic|uncertain significance
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) single nucleotide variant CLCN4-related disorder [RCV000239734]|not provided [RCV000816910] ChrX:10220837 [GRCh38]
ChrX:10188877 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.1601C>T (p.Ser534Leu) single nucleotide variant CLCN4-related disorder [RCV000239736] ChrX:10213705 [GRCh38]
ChrX:10181745 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.1876dup (p.Ile626fs) duplication CLCN4-related disorder [RCV000239738] ChrX:10213979..10213980 [GRCh38]
ChrX:10182019..10182020 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.635T>G (p.Val212Gly) single nucleotide variant CLCN4-related disorder [RCV000239752] ChrX:10206437 [GRCh38]
ChrX:10174477 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn) single nucleotide variant CLCN4-related disorder [RCV000239753]|not provided [RCV000441553] ChrX:10185075 [GRCh38]
ChrX:10153115 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
NM_001830.4(CLCN4):c.823G>A (p.Val275Met) single nucleotide variant CLCN4-related disorder [RCV000239756]|not provided [RCV000489638] ChrX:10206756 [GRCh38]
ChrX:10174796 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) single nucleotide variant CLCN4-related disorder [RCV000239763]|Inborn genetic diseases [RCV000624793]|not provided [RCV000413507] ChrX:10213768 [GRCh38]
ChrX:10181808 [GRCh37]
ChrX:Xp22.2
pathogenic|uncertain significance
NM_001830.4(CLCN4):c.662T>C (p.Leu221Pro) single nucleotide variant CLCN4-related disorder [RCV000239766] ChrX:10206464 [GRCh38]
ChrX:10174504 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.244+4C>T single nucleotide variant not provided [RCV001066683]|not specified [RCV000193507] ChrX:10187618 [GRCh38]
ChrX:10155658 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.705C>G (p.Gly235=) single nucleotide variant not provided [RCV000872242]|not specified [RCV000194552] ChrX:10206507 [GRCh38]
ChrX:10174547 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) single nucleotide variant not provided [RCV000857902]|not specified [RCV000194636] ChrX:10213862 [GRCh38]
ChrX:10181902 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity|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
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 Xp22.33-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: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 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001830.4(CLCN4):c.949G>T (p.Val317Phe) single nucleotide variant not provided [RCV000519254] ChrX:10208150 [GRCh38]
ChrX:10176190 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) single nucleotide variant Mental retardation 49, X-linked [RCV000239467] ChrX:10220876 [GRCh38]
ChrX:10188916 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) single nucleotide variant Mental retardation 49, X-linked [RCV000239489] ChrX:10213710 [GRCh38]
ChrX:10181750 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) single nucleotide variant Mental retardation 49, X-linked [RCV000239527] ChrX:10187602 [GRCh38]
ChrX:10155642 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) deletion Mental retardation 49, X-linked [RCV000239554] ChrX:10185071..10185083 [GRCh38]
ChrX:10153111..10153123 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) single nucleotide variant Mental retardation 49, X-linked [RCV000239579] ChrX:10206463 [GRCh38]
ChrX:10174503 [GRCh37]
ChrX:Xp22.2
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: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
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-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
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
NM_001830.4(CLCN4):c.1121T>C (p.Ile374Thr) single nucleotide variant not provided [RCV000489451] ChrX:10208322 [GRCh38]
ChrX:10176362 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn) single nucleotide variant Mental retardation 49, X-linked [RCV001270424] ChrX:10185162 [GRCh38]
ChrX:10153202 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser) single nucleotide variant Mental retardation 49, X-linked [RCV000585812]|not provided [RCV000802706] ChrX:10212653 [GRCh38]
ChrX:10180693 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
NM_001830.4(CLCN4):c.1390-6_1390-4del microsatellite not specified [RCV000600161] ChrX:10212458..10212460 [GRCh38]
ChrX:10180498..10180500 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.814A>G (p.Ile272Val) single nucleotide variant Inborn genetic diseases [RCV000624247] ChrX:10206747 [GRCh38]
ChrX:10174787 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1390-5T>G single nucleotide variant not provided [RCV000599009] ChrX:10212462 [GRCh38]
ChrX:10180502 [GRCh37]
ChrX:Xp22.2
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(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: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 Xp22.33-11.22(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: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
NM_001830.4(CLCN4):c.144+6T>A single nucleotide variant not specified [RCV000439346] ChrX:10185182 [GRCh38]
ChrX:10153222 [GRCh37]
ChrX:Xp22.2
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 Xp22.33-11.1(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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001830.4(CLCN4):c.832A>C (p.Ser278Arg) single nucleotide variant not provided [RCV001348029]|not specified [RCV000460627] ChrX:10206765 [GRCh38]
ChrX:10174805 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.712T>C (p.Phe238Leu) single nucleotide variant not provided [RCV000479604] ChrX:10206514 [GRCh38]
ChrX:10174554 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1955G>C (p.Arg652Thr) single nucleotide variant not provided [RCV000480000] ChrX:10214059 [GRCh38]
ChrX:10182099 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1551A>C (p.Ala517=) single nucleotide variant not provided [RCV000465509] ChrX:10212628 [GRCh38]
ChrX:10180668 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1390-4C>T single nucleotide variant not provided [RCV000465758] ChrX:10212463 [GRCh38]
ChrX:10180503 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1937T>C (p.Ile646Thr) single nucleotide variant Inborn genetic diseases [RCV000623220]|not provided [RCV000466524] ChrX:10214041 [GRCh38]
ChrX:10182081 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_001830.4(CLCN4):c.2184G>A (p.Thr728=) single nucleotide variant not provided [RCV000466613] ChrX:10220869 [GRCh38]
ChrX:10188909 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) single nucleotide variant Intellectual disability [RCV001260685]|not provided [RCV000484553] ChrX:10208150 [GRCh38]
ChrX:10176190 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.244+4C>G single nucleotide variant not provided [RCV000514801] ChrX:10187618 [GRCh38]
ChrX:10155658 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001830.4(CLCN4):c.1963A>G (p.Ile655Val) single nucleotide variant not provided [RCV000472727] ChrX:10214067 [GRCh38]
ChrX:10182107 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.747G>A (p.Glu249=) single nucleotide variant not provided [RCV000472964] ChrX:10206549 [GRCh38]
ChrX:10174589 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) single nucleotide variant not provided [RCV000485624] ChrX:10194931 [GRCh38]
ChrX:10162971 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001830.4(CLCN4):c.1633G>A (p.Gly545Ser) single nucleotide variant not provided [RCV000482605] ChrX:10213737 [GRCh38]
ChrX:10181777 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.288G>A (p.Thr96=) single nucleotide variant not provided [RCV000456249] ChrX:10194954 [GRCh38]
ChrX:10162994 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.314C>G (p.Ser105Cys) single nucleotide variant not provided [RCV000457025] ChrX:10194980 [GRCh38]
ChrX:10163020 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1107G>A (p.Pro369=) single nucleotide variant not provided [RCV000458713] ChrX:10208308 [GRCh38]
ChrX:10176348 [GRCh37]
ChrX:Xp22.2
likely benign
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_001830.4(CLCN4):c.1465C>A (p.Gln489Lys) single nucleotide variant not provided [RCV000498862] ChrX:10212542 [GRCh38]
ChrX:10180582 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.804T>G (p.Phe268Leu) single nucleotide variant not provided [RCV000498880] ChrX:10206737 [GRCh38]
ChrX:10174777 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.1295G>A (p.Arg432Gln) single nucleotide variant not specified [RCV000501315] ChrX:10208496 [GRCh38]
ChrX:10176536 [GRCh37]
ChrX:Xp22.2
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
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
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_001830.4(CLCN4):c.806G>A (p.Gly269Asp) single nucleotide variant CLCN4-related disorder [RCV000509195]|not provided [RCV000493438] ChrX:10206739 [GRCh38]
ChrX:10174779 [GRCh37]
ChrX:Xp22.2
likely pathogenic|not provided
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 Xp22.31-22.2(chrX:6954111-10636640)x1 copy number loss See cases [RCV000511565] ChrX:6954111..10636640 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
NM_001830.4(CLCN4):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000578600] ChrX:10185033 [GRCh38]
ChrX:10153073 [GRCh37]
ChrX:Xp22.2
likely 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 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_001830.4(CLCN4):c.1634G>A (p.Gly545Asp) single nucleotide variant Inborn genetic diseases [RCV000623174] ChrX:10213738 [GRCh38]
ChrX:10181778 [GRCh37]
ChrX:Xp22.2
likely pathogenic
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
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) single nucleotide variant Inborn genetic diseases [RCV000622286] ChrX:10220838 [GRCh38]
ChrX:10188878 [GRCh37]
ChrX:Xp22.2
uncertain significance
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_001830.4(CLCN4):c.822C>T (p.Gly274=) single nucleotide variant not provided [RCV000659141] ChrX:10206755 [GRCh38]
ChrX:10174795 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1678A>G (p.Lys560Glu) single nucleotide variant not provided [RCV000659142] ChrX:10213782 [GRCh38]
ChrX:10181822 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1829C>T (p.Ser610Leu) single nucleotide variant not provided [RCV000658123] ChrX:10213933 [GRCh38]
ChrX:10181973 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1648G>A (p.Val550Met) single nucleotide variant not provided [RCV000658163] ChrX:10213752 [GRCh38]
ChrX:10181792 [GRCh37]
ChrX:Xp22.2
uncertain significance
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 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
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
CLCN4, ARG718TRP single nucleotide variant Mental retardation 49, X-linked [RCV000721130] ChrX:Xp22.2 pathogenic
GRCh37/hg19 Xp22.2(chrX:9822921-10818845)x2 copy number gain not provided [RCV000753375] ChrX:9822921..10818845 [GRCh37]
ChrX:Xp22.2
benign
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
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
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
NM_001830.4(CLCN4):c.1887C>T (p.Thr629=) single nucleotide variant not provided [RCV000871182] ChrX:10213991 [GRCh38]
ChrX:10182031 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.264C>T (p.Ile88=) single nucleotide variant not provided [RCV000862506] ChrX:10194930 [GRCh38]
ChrX:10162970 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.433-6G>T single nucleotide variant not provided [RCV000939855] ChrX:10197933 [GRCh38]
ChrX:10165973 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.2100C>A (p.Ser700Arg) single nucleotide variant not provided [RCV000762604] ChrX:10220785 [GRCh38]
ChrX:10188825 [GRCh37]
ChrX:Xp22.2
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
NM_001830.4(CLCN4):c.1701G>C (p.Gly567=) single nucleotide variant not provided [RCV000981553] ChrX:10213805 [GRCh38]
ChrX:10181845 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.930C>T (p.Pro310=) single nucleotide variant not provided [RCV000943650] ChrX:10208131 [GRCh38]
ChrX:10176171 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1830G>A (p.Ser610=) single nucleotide variant not provided [RCV000864905] ChrX:10213934 [GRCh38]
ChrX:10181974 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.663T>C (p.Leu221=) single nucleotide variant not provided [RCV000878933] ChrX:10206465 [GRCh38]
ChrX:10174505 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.2031G>A (p.Thr677=) single nucleotide variant not provided [RCV000863670] ChrX:10220716 [GRCh38]
ChrX:10188756 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.231C>T (p.Ile77=) single nucleotide variant not provided [RCV000865023] ChrX:10187601 [GRCh38]
ChrX:10155641 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.2127G>C (p.Pro709=) single nucleotide variant not provided [RCV000870472] ChrX:10220812 [GRCh38]
ChrX:10188852 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.306C>G (p.Val102=) single nucleotide variant not provided [RCV000937124] ChrX:10194972 [GRCh38]
ChrX:10163012 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.844-8C>G single nucleotide variant not provided [RCV000945828] ChrX:10208037 [GRCh38]
ChrX:10176077 [GRCh37]
ChrX:Xp22.2
benign|likely benign
NM_001830.4(CLCN4):c.1854T>A (p.Thr618=) single nucleotide variant not provided [RCV000946370] ChrX:10213958 [GRCh38]
ChrX:10181998 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1062C>T (p.Ile354=) single nucleotide variant not provided [RCV000865520] ChrX:10208263 [GRCh38]
ChrX:10176303 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.912G>A (p.Thr304=) single nucleotide variant not provided [RCV000883556] ChrX:10208113 [GRCh38]
ChrX:10176153 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1401C>T (p.Gly467=) single nucleotide variant not provided [RCV000868033] ChrX:10212478 [GRCh38]
ChrX:10180518 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1566G>A (p.Ala522=) single nucleotide variant not provided [RCV000867249] ChrX:10212643 [GRCh38]
ChrX:10180683 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1479T>C (p.His493=) single nucleotide variant not provided [RCV000868127] ChrX:10212556 [GRCh38]
ChrX:10180596 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.2136G>A (p.Thr712=) single nucleotide variant not provided [RCV001050222] ChrX:10220821 [GRCh38]
ChrX:10188861 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
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
NM_001830.3:c.-11-?_*4076+?dup duplication not provided [RCV001034274]   likely benign
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met) single nucleotide variant not provided [RCV001039515] ChrX:10208520 [GRCh38]
ChrX:10176560 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) single nucleotide variant Mental retardation 49, X-linked [RCV000995508] ChrX:10212476 [GRCh38]
ChrX:10180516 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.844G>C (p.Val282Leu) single nucleotide variant not provided [RCV001043511] ChrX:10208045 [GRCh38]
ChrX:10176085 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) single nucleotide variant Mental retardation 49, X-linked [RCV000767936]|not provided [RCV001321811] ChrX:10185042 [GRCh38]
ChrX:10153082 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.274G>A (p.Val92Met) single nucleotide variant not provided [RCV000782085] ChrX:10194940 [GRCh38]
ChrX:10162980 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.984C>T (p.Tyr328=) single nucleotide variant not provided [RCV000867052] ChrX:10208185 [GRCh38]
ChrX:10176225 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1458C>T (p.Gly486=) single nucleotide variant not provided [RCV000861293] ChrX:10212535 [GRCh38]
ChrX:10180575 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.108A>G (p.Leu36=) single nucleotide variant not provided [RCV000931132] ChrX:10185140 [GRCh38]
ChrX:10153180 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1008C>A (p.Ile336=) single nucleotide variant not provided [RCV000939154] ChrX:10208209 [GRCh38]
ChrX:10176249 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1398G>A (p.Ser466=) single nucleotide variant not provided [RCV000863053] ChrX:10212475 [GRCh38]
ChrX:10180515 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.2158C>T (p.Leu720=) single nucleotide variant not provided [RCV000921010] ChrX:10220843 [GRCh38]
ChrX:10188883 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.627C>G (p.Val209=) single nucleotide variant not provided [RCV000931526] ChrX:10206429 [GRCh38]
ChrX:10174469 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1392C>T (p.Ile464=) single nucleotide variant not provided [RCV000866644] ChrX:10212469 [GRCh38]
ChrX:10180509 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.651C>T (p.Ser217=) single nucleotide variant not provided [RCV000863358] ChrX:10206453 [GRCh38]
ChrX:10174493 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.948C>T (p.Leu316=) single nucleotide variant not provided [RCV000869304] ChrX:10208149 [GRCh38]
ChrX:10176189 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1431G>A (p.Ala477=) single nucleotide variant not provided [RCV000939938] ChrX:10212508 [GRCh38]
ChrX:10180548 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1576+9A>T single nucleotide variant not provided [RCV000921996] ChrX:10212662 [GRCh38]
ChrX:10180702 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.78G>A (p.Thr26=) single nucleotide variant not provided [RCV000863722] ChrX:10185110 [GRCh38]
ChrX:10153150 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) single nucleotide variant not provided [RCV000862975] ChrX:10220715 [GRCh38]
ChrX:10188755 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.871T>C (p.Leu291=) single nucleotide variant not provided [RCV000865762] ChrX:10208072 [GRCh38]
ChrX:10176112 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.270C>T (p.Leu90=) single nucleotide variant not provided [RCV000872660] ChrX:10194936 [GRCh38]
ChrX:10162976 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1716C>T (p.Tyr572=) single nucleotide variant not provided [RCV000869723] ChrX:10213820 [GRCh38]
ChrX:10181860 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.244+5G>A single nucleotide variant not provided [RCV000802024] ChrX:10187619 [GRCh38]
ChrX:10155659 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1296G>T (p.Arg432=) single nucleotide variant not provided [RCV000937542] ChrX:10208497 [GRCh38]
ChrX:10176537 [GRCh37]
ChrX:Xp22.2
likely benign
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 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys) single nucleotide variant not provided [RCV000816809] ChrX:10208279 [GRCh38]
ChrX:10176319 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_001830.4(CLCN4):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV001055263] ChrX:10208499 [GRCh38]
ChrX:10176539 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1253A>G (p.Asn418Ser) single nucleotide variant not provided [RCV001059004] ChrX:10208454 [GRCh38]
ChrX:10176494 [GRCh37]
ChrX:Xp22.2
uncertain significance
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_001830.4(CLCN4):c.1577-6T>C single nucleotide variant not provided [RCV000864192] ChrX:10213675 [GRCh38]
ChrX:10181715 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1395G>A (p.Pro465=) single nucleotide variant not provided [RCV000864537] ChrX:10212472 [GRCh38]
ChrX:10180512 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly) single nucleotide variant not provided [RCV000815531] ChrX:10208252 [GRCh38]
ChrX:10176292 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1577-7_1577-6del deletion not provided [RCV000862488] ChrX:10213673..10213674 [GRCh38]
ChrX:10181713..10181714 [GRCh37]
ChrX:Xp22.2
likely benign
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_001830.4(CLCN4):c.1548C>T (p.Tyr516=) single nucleotide variant not provided [RCV000862640] ChrX:10212625 [GRCh38]
ChrX:10180665 [GRCh37]
ChrX:Xp22.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001830.4(CLCN4):c.758G>T (p.Arg253Leu) single nucleotide variant not provided [RCV001055285] ChrX:10206560 [GRCh38]
ChrX:10174600 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) single nucleotide variant not provided [RCV001055778] ChrX:10220688 [GRCh38]
ChrX:10188728 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10204986-10291450)x1 copy number loss not provided [RCV000847395] ChrX:10204986..10291450 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.59C>A (p.Pro20Gln) single nucleotide variant not provided [RCV000999315] ChrX:10185091 [GRCh38]
ChrX:10153131 [GRCh37]
ChrX:Xp22.2
uncertain significance
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
NM_001830.4(CLCN4):c.2084G>A (p.Arg695His) single nucleotide variant not provided [RCV001206299]|not specified [RCV001175412] ChrX:10220769 [GRCh38]
ChrX:10188809 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1321G>A (p.Ala441Thr) single nucleotide variant not provided [RCV001226309] ChrX:10208522 [GRCh38]
ChrX:10176562 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1229C>T (p.Ser410Phe) single nucleotide variant not provided [RCV001208562] ChrX:10208430 [GRCh38]
ChrX:10176470 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1717G>A (p.Glu573Lys) single nucleotide variant not provided [RCV001248385] ChrX:10213821 [GRCh38]
ChrX:10181861 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1369A>G (p.Ile457Val) single nucleotide variant not provided [RCV001216360] ChrX:10208570 [GRCh38]
ChrX:10176610 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1185C>T (p.Ser395=) single nucleotide variant not provided [RCV001235724] ChrX:10208386 [GRCh38]
ChrX:10176426 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.304G>T (p.Val102Phe) single nucleotide variant not provided [RCV001226024] ChrX:10194970 [GRCh38]
ChrX:10163010 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) single nucleotide variant not provided [RCV001238848] ChrX:10220852 [GRCh38]
ChrX:10188892 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.340T>C (p.Cys114Arg) single nucleotide variant not provided [RCV001219273] ChrX:10195006 [GRCh38]
ChrX:10163046 [GRCh37]
ChrX:Xp22.2
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
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
NM_001830.4(CLCN4):c.2283G>A (p.Ter761=) single nucleotide variant not provided [RCV000978018] ChrX:10233584 [GRCh38]
ChrX:10201624 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1647C>A (p.Ile549=) single nucleotide variant not provided [RCV000862154] ChrX:10213751 [GRCh38]
ChrX:10181791 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1863C>T (p.Asp621=) single nucleotide variant not provided [RCV000862421] ChrX:10213967 [GRCh38]
ChrX:10182007 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1980C>T (p.Asn660=) single nucleotide variant not provided [RCV000952224] ChrX:10220665 [GRCh38]
ChrX:10188705 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1518C>T (p.Pro506=) single nucleotide variant not provided [RCV000979779] ChrX:10212595 [GRCh38]
ChrX:10180635 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1363G>A (p.Val455Ile) single nucleotide variant not provided [RCV000862206] ChrX:10208564 [GRCh38]
ChrX:10176604 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1819C>T (p.Pro607Ser) single nucleotide variant Microcephaly [RCV001252697]|not provided [RCV000863314] ChrX:10213923 [GRCh38]
ChrX:10181963 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_001830.4(CLCN4):c.18G>A (p.Ala6=) single nucleotide variant not provided [RCV000867376] ChrX:10185050 [GRCh38]
ChrX:10153090 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.363C>G (p.Thr121=) single nucleotide variant not provided [RCV000863509] ChrX:10195029 [GRCh38]
ChrX:10163069 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1536G>A (p.Thr512=) single nucleotide variant not provided [RCV000937165] ChrX:10212613 [GRCh38]
ChrX:10180653 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1764C>T (p.Asp588=) single nucleotide variant not provided [RCV000873043] ChrX:10213868 [GRCh38]
ChrX:10181908 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.165G>A (p.Glu55=) single nucleotide variant not provided [RCV000918152] ChrX:10187535 [GRCh38]
ChrX:10155575 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1695A>G (p.Ala565=) single nucleotide variant not provided [RCV000873294] ChrX:10213799 [GRCh38]
ChrX:10181839 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.145-4C>A single nucleotide variant not provided [RCV000861021] ChrX:10187511 [GRCh38]
ChrX:10155551 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.12G>A (p.Ala4=) single nucleotide variant not provided [RCV000938610] ChrX:10185044 [GRCh38]
ChrX:10153084 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1576+5G>A single nucleotide variant not provided [RCV000864175] ChrX:10212658 [GRCh38]
ChrX:10180698 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.1575C>T (p.Leu525=) single nucleotide variant not provided [RCV000861991] ChrX:10212652 [GRCh38]
ChrX:10180692 [GRCh37]
ChrX:Xp22.2
benign
NM_001830.4(CLCN4):c.2021T>C (p.Met674Thr) single nucleotide variant not provided [RCV001071627] ChrX:10220706 [GRCh38]
ChrX:10188746 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.584_585delinsCA (p.Ile195Thr) indel not provided [RCV001223889] ChrX:10206386..10206387 [GRCh38]
ChrX:10174426..10174427 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.844-9T>G single nucleotide variant not provided [RCV000934703] ChrX:10208036 [GRCh38]
ChrX:10176076 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.486G>A (p.Leu162=) single nucleotide variant not provided [RCV000912778] ChrX:10197992 [GRCh38]
ChrX:10166032 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.832del (p.Ser278fs) deletion Mental retardation 49, X-linked [RCV001263498] ChrX:10206765 [GRCh38]
ChrX:10174805 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:9932157-10348325)x3 copy number gain not provided [RCV001007257] ChrX:9932157..10348325 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) single nucleotide variant Mental retardation 49, X-linked [RCV001027719] ChrX:10220736 [GRCh38]
ChrX:10188776 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val) single nucleotide variant not provided [RCV001057937] ChrX:10185043 [GRCh38]
ChrX:10153083 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1989G>C (p.Gln663His) single nucleotide variant not provided [RCV001063442] ChrX:10220674 [GRCh38]
ChrX:10188714 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1021T>C (p.Phe341Leu) single nucleotide variant not provided [RCV001048731] ChrX:10208222 [GRCh38]
ChrX:10176262 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:9895992-10348490)x3 copy number gain not provided [RCV001007256] ChrX:9895992..10348490 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.419T>C (p.Val140Ala) single nucleotide variant not provided [RCV001051544] ChrX:10195085 [GRCh38]
ChrX:10163125 [GRCh37]
ChrX:Xp22.2
benign|uncertain significance
NM_001830.4(CLCN4):c.1908G>A (p.Val636=) single nucleotide variant not provided [RCV001035765] ChrX:10214012 [GRCh38]
ChrX:10182052 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.547A>T (p.Ile183Leu) single nucleotide variant not provided [RCV001093289] ChrX:10198053 [GRCh38]
ChrX:10166093 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1552A>G (p.Met518Val) single nucleotide variant not provided [RCV001232781] ChrX:10212629 [GRCh38]
ChrX:10180669 [GRCh37]
ChrX:Xp22.2
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
NM_001830.4(CLCN4):c.373del (p.Asp125fs) deletion Mental retardation 49, X-linked [RCV001253343] ChrX:10195038 [GRCh38]
ChrX:10163078 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) single nucleotide variant Mental retardation 49, X-linked [RCV001253788] ChrX:10213750 [GRCh38]
ChrX:10181790 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.665G>C (p.Gly222Ala) single nucleotide variant Inborn genetic diseases [RCV001266734] ChrX:10206467 [GRCh38]
ChrX:10174507 [GRCh37]
ChrX:Xp22.2
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
NM_001830.4(CLCN4):c.573C>T (p.Ser191=) single nucleotide variant not provided [RCV001311052] ChrX:10206375 [GRCh38]
ChrX:10174415 [GRCh37]
ChrX:Xp22.2
likely benign
NM_001830.4(CLCN4):c.1171C>A (p.Arg391Ser) single nucleotide variant Rare genetic intellectual disability [RCV001257020] ChrX:10208372 [GRCh38]
ChrX:10176412 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.820G>A (p.Gly274Ser) single nucleotide variant Intellectual disability [RCV001260684] ChrX:10206753 [GRCh38]
ChrX:10174793 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu) single nucleotide variant not provided [RCV001312552] ChrX:10208307 [GRCh38]
ChrX:10176347 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) single nucleotide variant Mental retardation 49, X-linked [RCV001332043] ChrX:10212638 [GRCh38]
ChrX:10180678 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) single nucleotide variant Mental retardation 49, X-linked [RCV001262758] ChrX:10197975 [GRCh38]
ChrX:10166015 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1808G>A (p.Arg603Gln) single nucleotide variant not provided [RCV001352259] ChrX:10213912 [GRCh38]
ChrX:10181952 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2265A>T (p.Glu755Asp) single nucleotide variant not provided [RCV001307699] ChrX:10233566 [GRCh38]
ChrX:10201606 [GRCh37]
ChrX:Xp22.2
uncertain significance
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_001830.4(CLCN4):c.1665G>A (p.Ala555=) single nucleotide variant not provided [RCV001352194] ChrX:10213769 [GRCh38]
ChrX:10181809 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1294C>T (p.Arg432Trp) single nucleotide variant not provided [RCV001313294] ChrX:10208495 [GRCh38]
ChrX:10176535 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1390-7C>G single nucleotide variant not provided [RCV001315936] ChrX:10212460 [GRCh38]
ChrX:10180500 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1453A>G (p.Ile485Val) single nucleotide variant not provided [RCV001305240] ChrX:10212530 [GRCh38]
ChrX:10180570 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV001299119] ChrX:10185048 [GRCh38]
ChrX:10153088 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1281T>G (p.Asp427Glu) single nucleotide variant not provided [RCV001309827] ChrX:10208482 [GRCh38]
ChrX:10176522 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro) single nucleotide variant Mental retardation 49, X-linked [RCV001270442] ChrX:10208403 [GRCh38]
ChrX:10176443 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_001830.4(CLCN4):c.159C>A (p.Ser53Arg) single nucleotide variant not provided [RCV001301925] ChrX:10187529 [GRCh38]
ChrX:10155569 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2168G>A (p.Arg723Gln) single nucleotide variant not provided [RCV001347280] ChrX:10220853 [GRCh38]
ChrX:10188893 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2038C>T (p.Pro680Ser) single nucleotide variant not provided [RCV001319219] ChrX:10220723 [GRCh38]
ChrX:10188763 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2231del (p.Arg744fs) deletion not provided [RCV001347625] ChrX:10233532 [GRCh38]
ChrX:10201572 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.122G>A (p.Arg41Gln) single nucleotide variant not provided [RCV001319643] ChrX:10185154 [GRCh38]
ChrX:10153194 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1998G>C (p.Glu666Asp) single nucleotide variant not provided [RCV001337472] ChrX:10220683 [GRCh38]
ChrX:10188723 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.1246T>C (p.Tyr416His) single nucleotide variant not provided [RCV001298916] ChrX:10208447 [GRCh38]
ChrX:10176487 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) single nucleotide variant Mental retardation 49, X-linked [RCV001332044]|Seizures [RCV001281568] ChrX:10220723 [GRCh38]
ChrX:10188763 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_001830.4(CLCN4):c.181A>C (p.Ile61Leu) single nucleotide variant not provided [RCV001298169] ChrX:10187551 [GRCh38]
ChrX:10155591 [GRCh37]
ChrX:Xp22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2022 AgrOrtholog
COSMIC CLCN4 COSMIC
Ensembl Genes ENSG00000073464 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370209 UniProtKB/TrEMBL
  ENSP00000370213 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403064 UniProtKB/TrEMBL
  ENSP00000405754 UniProtKB/TrEMBL
  ENSP00000501600 UniProtKB/TrEMBL
  ENSP00000501922 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502110 UniProtKB/TrEMBL
Ensembl Transcript ENST00000380829 UniProtKB/TrEMBL
  ENST00000380833 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000421085 UniProtKB/TrEMBL
  ENST00000454850 UniProtKB/TrEMBL
  ENST00000674669 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000675144 UniProtKB/TrEMBL
  ENST00000675769 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073464 GTEx
HGNC ID HGNC:2022 ENTREZGENE
Human Proteome Map CLCN4 Human Proteome Map
InterPro CBS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_volt-gated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl_channel-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1183 UniProtKB/Swiss-Prot
NCBI Gene 1183 ENTREZGENE
OMIM 300114 OMIM
  302910 OMIM
PANTHER PTHR45711:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage_CLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26549 PharmGKB
PRINTS CLCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLCHANNEL4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PF24_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG54_HUMAN UniProtKB/TrEMBL
  A0A7I2Y1J6_HUMAN UniProtKB/TrEMBL
  CLCN4_HUMAN UniProtKB/Swiss-Prot
  E9PFB5_HUMAN UniProtKB/TrEMBL
  G3XAG5_HUMAN UniProtKB/TrEMBL
  P51793 ENTREZGENE
  Q4G0X3_HUMAN UniProtKB/TrEMBL
  Q75N13_HUMAN UniProtKB/TrEMBL
UniProt Secondary A1L3U1 UniProtKB/Swiss-Prot
  B7Z5Z4 UniProtKB/Swiss-Prot
  Q9UBU1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-22 CLCN4  chloride voltage-gated channel 4  MRX49  mental retardation, X-linked 49  Data Merged 737654 PROVISIONAL
2017-08-22 CLCN4  chloride voltage-gated channel 4  MRX15  mental retardation, X-linked 15  Data Merged 737654 PROVISIONAL
2016-02-10 CLCN4  chloride voltage-gated channel 4    chloride channel, voltage-sensitive 4  Symbol and/or name change 5135510 APPROVED
2012-03-01 CLCN4  chloride channel, voltage-sensitive 4  CLCN4  chloride channel 4  Symbol and/or name change 5135510 APPROVED
2011-08-17 CLCN4  chloride channel 4  CLCN4  chloride channel 4  Symbol and/or name change 5135510 APPROVED