ARX (aristaless related homeobox) - Rat Genome Database

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Gene: ARX (aristaless related homeobox) Homo sapiens
Analyze
Symbol: ARX
Name: aristaless related homeobox
RGD ID: 1344380
HGNC Page HGNC
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in nervous system development and regulation of transcription by RNA polymerase II. Predicted to localize to chromatin. Implicated in corpus callosum agenesis-abnormal genitalia syndrome; developmental and epileptic encephalopathy 1; intellectual disability (multiple); and lissencephaly.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aristaless-related homeobox; aristaless-related homeobox, X-linked; cancer/testis antigen 121; CT121; EIEE1; homeobox protein ARX; ISSX; mental retardation, X-linked 29; mental retardation, X-linked 32; mental retardation, X-linked 33; mental retardation, X-linked 36; mental retardation, X-linked 38; mental retardation, X-linked 43; mental retardation, X-linked 54; mental retardation, X-linked 76; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS
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 EnsemblX25,003,694 - 25,016,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38X25,003,694 - 25,015,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X25,021,811 - 25,034,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,932,213 - 24,943,775 (-)NCBINCBI36hg18NCBI36
Build 34X24,781,948 - 24,793,511NCBI
CeleraX29,145,744 - 29,157,998 (-)NCBI
Cytogenetic MapXp21.3NCBI
HuRefX22,763,568 - 22,793,924 (-)NCBIHuRef
CHM1_1X25,053,346 - 25,065,599 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleus  (IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormal hip bone morphology  (IAGP)
Abnormal synaptic transmission  (IAGP)
Abnormality of skin morphology  (IAGP)
Abnormally large globe  (IAGP)
Absent thumbnail  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anteverted nares  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Behavioral abnormality  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad alveolar ridges  (IAGP)
Broad finger  (IAGP)
Broad nasal tip  (IAGP)
Broad phalanx of the toes  (IAGP)
Camptodactyly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Coarse facial features  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased testicular size  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Duane anomaly  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Facial palsy  (IAGP)
Facial telangiectasia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Focal dystonia  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Hyperactivity  (IAGP)
Hyperconvex nail  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (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, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Limb dystonia  (IAGP)
Limb joint contracture  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Long upper lip  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Lower limb spasticity  (IAGP)
Macrocephaly  (IAGP)
Macroorchidism  (IAGP)
Malabsorption  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Muscle stiffness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myoclonus  (IAGP)
Neonatal hypotonia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic atrophy  (IAGP)
Overlapping toe  (IAGP)
Pachygyria  (IAGP)
Patent ductus arteriosus  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Precocious puberty  (IAGP)
Profound global developmental delay  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent supraorbital ridges  (IAGP)
Protruding ear  (IAGP)
Pyloric stenosis  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe global developmental delay  (IAGP)
Short finger  (IAGP)
Short stature  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Sleep disturbance  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Tetraplegia  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Urinary incontinence  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1605216   PMID:3177452   PMID:8826457   PMID:8826462   PMID:8826464   PMID:9001795   PMID:10398243   PMID:10398246   PMID:10920247   PMID:11889467   PMID:12142061   PMID:12359145  
PMID:12376946   PMID:12376949   PMID:12736870   PMID:12874405   PMID:12874418   PMID:14722918   PMID:15199382   PMID:15533998   PMID:15707237   PMID:15726411   PMID:16301625   PMID:16523516  
PMID:16845484   PMID:16988001   PMID:17044103   PMID:17082467   PMID:17480217   PMID:17490853   PMID:17613295   PMID:17641262   PMID:17668384   PMID:18468866   PMID:18923043   PMID:18975239  
PMID:19085879   PMID:19274049   PMID:19734009   PMID:19738637   PMID:20384723   PMID:20506206   PMID:20538404   PMID:21108397   PMID:21204215   PMID:21204226   PMID:21426321   PMID:21482751  
PMID:21496008   PMID:21873635   PMID:22194193   PMID:22252899   PMID:22387004   PMID:22490986   PMID:22565167   PMID:22628459   PMID:22642246   PMID:22922607   PMID:23072184   PMID:23583054  
PMID:23657928   PMID:24727054   PMID:24794919   PMID:25044608   PMID:25171319   PMID:26306640   PMID:26337422   PMID:26496610   PMID:26633894   PMID:26856418   PMID:27798109   PMID:28150386  
PMID:28215845   PMID:28473536   PMID:29275192   PMID:29659809   PMID:29896742   PMID:29984154   PMID:30255221   PMID:30419043   PMID:31145546   PMID:31175998   PMID:31846235   PMID:32103422  
PMID:32149367  


Genomics

Comparative Map Data
ARX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX25,003,694 - 25,016,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38X25,003,694 - 25,015,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X25,021,811 - 25,034,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,932,213 - 24,943,775 (-)NCBINCBI36hg18NCBI36
Build 34X24,781,948 - 24,793,511NCBI
CeleraX29,145,744 - 29,157,998 (-)NCBI
Cytogenetic MapXp21.3NCBI
HuRefX22,763,568 - 22,793,924 (-)NCBIHuRef
CHM1_1X25,053,346 - 25,065,599 (-)NCBICHM1_1
Arx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X92,330,113 - 92,341,963 (+)NCBIGRCm39mm39
GRCm39 EnsemblX92,330,051 - 92,341,963 (+)Ensembl
GRCm38X93,286,507 - 93,298,357 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX93,286,445 - 93,298,357 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X90,531,985 - 90,543,696 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X89,539,365 - 89,551,076 (+)NCBImm8
CeleraX80,208,596 - 80,220,179 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX41.05NCBI
Arx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X58,016,233 - 58,028,149 (+)NCBI
Rnor_6.0 EnsemblX62,363,757 - 62,376,143 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X62,363,757 - 62,376,139 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X62,957,562 - 62,969,944 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X80,631,375 - 80,643,989 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX58,455,664 - 58,467,636 (+)NCBICelera
Cytogenetic MapXq22NCBI
Arx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555095,326,145 - 5,338,250 (-)NCBIChiLan1.0ChiLan1.0
ARX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X24,965,203 - 24,977,939 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X17,598,858 - 17,612,544 (-)NCBIMhudiblu_PPA_v0panPan3
ARX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X20,545,346 - 20,556,206 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX20,545,346 - 20,556,206 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X20,498,344 - 20,511,419 (-)NCBI
UMICH_Zoey_3.1X20,538,249 - 20,549,126 (-)NCBI
UNSW_CanFamBas_1.0X20,571,748 - 20,582,617 (-)NCBI
UU_Cfam_GSD_1.0X20,628,835 - 20,639,715 (-)NCBI
Arx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X13,532,367 - 13,551,810 (-)NCBI
SpeTri2.0NW_004936836295,090 - 306,756 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX21,067,613 - 21,079,524 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X21,067,631 - 21,079,850 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X22,463,824 - 22,474,788 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X23,499,791 - 23,518,333 (-)NCBI
ChlSab1.1 EnsemblX23,500,454 - 23,511,524 (-)Ensembl
Arx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248971,279,138 - 1,303,210 (-)NCBI

Position Markers
DXS1202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X26,471,350 - 26,471,630UniSTSGRCh37
Build 36X26,381,271 - 26,381,551RGDNCBI36
CeleraX30,598,795 - 30,599,075RGD
Cytogenetic MapXp21.3UniSTS
HuRefX24,209,593 - 24,209,875UniSTS
Marshfield Genetic MapX30.3UniSTS
Marshfield Genetic MapX30.3RGD
Genethon Genetic MapX41.7UniSTS
deCODE Assembly MapX42.78UniSTS
Whitehead-RH MapX20.0UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
DXS989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X23,184,442 - 23,184,632UniSTSGRCh37
Build 36X23,094,363 - 23,094,553RGDNCBI36
CeleraX27,306,124 - 27,306,314RGD
Cytogenetic MapXp22-p21UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic MapXp11.4UniSTS
HuRefX20,925,457 - 20,925,645UniSTS
Marshfield Genetic MapX29.76RGD
Marshfield Genetic MapX29.76UniSTS
Genethon Genetic MapX40.6UniSTS
deCODE Assembly MapX40.21UniSTS
GeneMap99-GB4 RH MapX97.2UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
DXS1432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X25,024,811 - 25,024,889UniSTSGRCh37
Build 36X24,934,732 - 24,934,810RGDNCBI36
CeleraX29,148,744 - 29,148,822RGD
Cytogenetic MapXp21.3UniSTS
HuRefX22,766,567 - 22,766,645UniSTS
RH128932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X25,021,838 - 25,022,036UniSTSGRCh37
Build 36X24,931,759 - 24,931,957RGDNCBI36
CeleraX29,145,771 - 29,145,969RGD
HuRefX22,763,595 - 22,763,793UniSTS
RH18271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,041,499 - 117,041,683UniSTSGRCh37
GRCh37X25,052,780 - 25,052,991UniSTSGRCh37
Build 36X24,962,701 - 24,962,912RGDNCBI36
CeleraX29,176,725 - 29,176,936RGD
Celera11114,199,171 - 114,199,355UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic MapXp21.3UniSTS
HuRef11112,974,336 - 112,974,520UniSTS
HuRefX22,792,346 - 22,792,557UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
Arx  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X25,021,839 - 25,022,736UniSTSGRCh37
CeleraX29,145,772 - 29,146,669UniSTS
HuRefX22,763,596 - 22,764,493UniSTS
DXS1218  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.1-p21.3UniSTS
Cytogenetic MapXp21.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:755
Count of miRNA genes:588
Interacting mature miRNAs:643
Transcripts:ENST00000379044
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2 4 6 109 120 438 3 316 31 1 107
Low 400 6 353 32 131 10 774 728 1730 37 471 451 25 1 4 712 1
Below cutoff 1140 1207 899 242 794 113 1826 546 937 169 384 958 137 492 1007 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000379044   ⟹   ENSP00000368332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX25,003,694 - 25,015,965 (-)Ensembl
RefSeq Acc Id: ENST00000636609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX25,015,581 - 25,016,205 (-)Ensembl
RefSeq Acc Id: ENST00000636885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX25,004,860 - 25,006,005 (-)Ensembl
RefSeq Acc Id: ENST00000637394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX25,015,613 - 25,016,420 (-)Ensembl
RefSeq Acc Id: ENST00000637993   ⟹   ENSP00000490122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX25,006,545 - 25,007,171 (-)Ensembl
RefSeq Acc Id: NM_139058   ⟹   NP_620689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X25,003,694 - 25,015,965 (-)NCBI
GRCh37X25,021,811 - 25,034,065 (-)ENTREZGENE
Build 36X24,932,213 - 24,943,775 (-)NCBI Archive
HuRefX22,763,568 - 22,793,924 (-)ENTREZGENE
CHM1_1X25,053,346 - 25,065,599 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_620689 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK93901 (Get FASTA)   NCBI Sequence Viewer  
  EAW99031 (Get FASTA)   NCBI Sequence Viewer  
  EAW99032 (Get FASTA)   NCBI Sequence Viewer  
  Q96QS3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_620689   ⟸   NM_139058
- UniProtKB: Q96QS3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000490122   ⟸   ENST00000637993
RefSeq Acc Id: ENSP00000368332   ⟸   ENST00000379044

Promoters
RGD ID:13604960
Promoter ID:EPDNEW_H28664
Type:initiation region
Name:ARX_1
Description:aristaless related homeobox
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X25,015,962 - 25,016,022EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139058.3(ARX):c.1017G>C (p.Gln339His) single nucleotide variant not provided [RCV000722366] ChrX:25012978 [GRCh38]
ChrX:25031095 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1463T>C (p.Met488Thr) single nucleotide variant not provided [RCV000522985] ChrX:25004896 [GRCh38]
ChrX:25023013 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup) duplication Epileptic encephalopathy, early infantile, 1 [RCV000558205] ChrX:25013536..25013537 [GRCh38]
ChrX:25031653..25031654 [GRCh37]
ChrX:Xp21.3
pathogenic
ARX, 24-BP DEL, NT441 deletion Mental retardation, with or without seizures, ARX-related, X-linked [RCV000011954]|X-linked mental retardation, with or without seizures, ARX-related [RCV000011954] ChrX:Xp22.13 uncertain significance
NM_139058.3(ARX):c.306_308GGC[5] (p.Ala111_Ala115del) microsatellite not provided [RCV000722506] ChrX:25013660..25013674 [GRCh38]
ChrX:25031777..25031791 [GRCh37]
ChrX:Xp21.3
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_139058.3(ARX):c.306_308GGC[4] (p.Ala110_Ala115del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000543172] ChrX:25013660..25013677 [GRCh38]
ChrX:25031777..25031794 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) duplication Epileptic encephalopathy, early infantile, 1 [RCV000011937]|Epileptic encephalopathy, early infantile, 1 [RCV000700342]|Mental retardation, with or without seizures, ARX-related, X-linked [RCV000011938]|Partington syndrome [RCV000033212]|not provided [RCV000487265] ChrX:25013543..25013544 [GRCh38]
ChrX:25031660..25031661 [GRCh37]
ChrX:Xp21.3
pathogenic|uncertain significance
ARX, 32-BP DEL, NT420 deletion Lissencephaly 2, X-linked [RCV000011941] ChrX:Xp22.13 pathogenic
ARX, 1-BP DEL, 790C deletion Lissencephaly 2, X-linked [RCV000011942]|X-linked lissencephaly 2 [RCV000011942] ChrX:Xp22.13 pathogenic
NM_139058.3(ARX):c.995G>A (p.Arg332His) single nucleotide variant Lissencephaly 2, X-linked [RCV000011943]|not provided [RCV000145064] ChrX:25013000 [GRCh38]
ChrX:25031117 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) single nucleotide variant Lissencephaly 2, X-linked [RCV000011944] ChrX:25010262 [GRCh38]
ChrX:25028379 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1187dup (p.Gly397fs) duplication Lissencephaly 2, X-linked [RCV000011945]|Mental retardation, with or without seizures, ARX-related, X-linked [RCV001194458] ChrX:25007371..25007372 [GRCh38]
ChrX:25025488..25025489 [GRCh37]
ChrX:Xp21.3
pathogenic|likely pathogenic
ARX, EX1-2DEL deletion Lissencephaly 2, X-linked [RCV000011946] ChrX:Xp22.13 pathogenic
ARX, 1-BP DEL, 1372G deletion Lissencephaly 2, X-linked [RCV000011947]|X-linked lissencephaly 2 [RCV000011947] ChrX:Xp22.13 pathogenic
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) single nucleotide variant Lissencephaly 2, X-linked [RCV000011948] ChrX:25012967 [GRCh38]
ChrX:25031084 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) single nucleotide variant Mental retardation, with or without seizures, ARX-related, X-linked [RCV000011949] ChrX:25015640 [GRCh38]
ChrX:25033757 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001230602]|Mental retardation, with or without seizures, ARX-related, X-linked [RCV000011950]|not provided [RCV000487519] ChrX:25013139 [GRCh38]
ChrX:25031256 [GRCh37]
ChrX:Xp21.3
pathogenic|likely pathogenic|uncertain significance
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) single nucleotide variant Corpus callosum agenesis-abnormal genitalia syndrome [RCV000011951]|not provided [RCV000145066] ChrX:25012997 [GRCh38]
ChrX:25031114 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1105G>T (p.Glu369Ter) single nucleotide variant Hydranencephaly with abnormal genitalia [RCV000011952] ChrX:25010274 [GRCh38]
ChrX:25028391 [GRCh37]
ChrX:Xp21.3
pathogenic
ARX, 1-BP DEL, 617G deletion Lissencephaly 2, X-linked [RCV000011955]|X-linked lissencephaly 2 [RCV000011955] ChrX:Xp22.13 pathogenic
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) single nucleotide variant Lissencephaly 2, X-linked [RCV000011956] ChrX:25013763 [GRCh38]
ChrX:25031880 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.450C>A (p.Ala150=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000543512] ChrX:25013545 [GRCh38]
ChrX:25031662 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000022856] ChrX:25015657 [GRCh38]
ChrX:25033774 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.306_308GGC[17] (p.Ala109_Ala115dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000011936]|Epileptic encephalopathy, early infantile, 1 [RCV000456891]|History of neurodevelopmental disorder [RCV000720762]|Lissencephaly 2, X-linked [RCV000193540]|not provided [RCV000399003] ChrX:25013659..25013660 [GRCh38]
ChrX:25031776..25031777 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000011939] ChrX:25012937 [GRCh38]
ChrX:25031054 [GRCh37]
ChrX:Xp21.3
pathogenic
ARX, 1,517-BP DEL deletion Epileptic encephalopathy, early infantile, 1 [RCV000011940] ChrX:Xp22.13 pathogenic
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) duplication Epileptic encephalopathy, early infantile, 1 [RCV000011953] ChrX:25013653..25013654 [GRCh38]
ChrX:25031770..25031771 [GRCh37]
ChrX:Xp21.3
pathogenic
ARX, 1-BP DEL, 1465G deletion Epileptic encephalopathy, early infantile, 1 [RCV000011957] ChrX:Xp22.13 pathogenic
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) duplication Epileptic encephalopathy, early infantile, 1 [RCV000022855] ChrX:25013533..25013534 [GRCh38]
ChrX:25031650..25031651 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000022857] ChrX:25004755 [GRCh38]
ChrX:25022872 [GRCh37]
ChrX:Xp21.3
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: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 Xp22.11-21.3(chrX:24715187-25004423)x3 copy number gain See cases [RCV000050964] ChrX:24715187..25004423 [GRCh38]
ChrX:24733304..25022540 [GRCh37]
ChrX:24643225..24932461 [NCBI36]
ChrX:Xp22.11-21.3
uncertain significance
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-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 Xp22.33-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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
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: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 Xp22.33-11.21(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 Xp22.33-11.21(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-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 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) single nucleotide variant not provided [RCV000173566] ChrX:25015708 [GRCh38]
ChrX:25033825 [GRCh37]
ChrX:Xp21.3
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_139058.2(ARX):c.1025A>G (p.Glu342Gly) single nucleotide variant not provided [RCV000082596] ChrX:25012970 [GRCh38]
ChrX:25031087 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.1060G>A (p.Asp354Asn) single nucleotide variant not provided [RCV000082597] ChrX:25012935 [GRCh38]
ChrX:25031052 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.3(ARX):c.1149_1150GC[1] (p.Arg384fs) microsatellite not provided [RCV000082598] ChrX:25007407..25007408 [GRCh38]
ChrX:25025524..25025525 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1272G>A (p.Pro424=) single nucleotide variant not provided [RCV000723583]|not specified [RCV000082599] ChrX:25007287 [GRCh38]
ChrX:25025404 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.2(ARX):c.1320_1321insGCC (p.Ala440_Phe441insAla) insertion not provided [RCV000082600] ChrX:25007238..25007239 [GRCh38]
ChrX:25025355..25025356 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.3(ARX):c.1347C>T (p.Gly449=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000576415]|History of neurodevelopmental disorder [RCV000715060]|not specified [RCV000082601] ChrX:25007212 [GRCh38]
ChrX:25025329 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.3(ARX):c.1515A>C (p.Thr505=) single nucleotide variant not provided [RCV000082602] ChrX:25004844 [GRCh38]
ChrX:25022961 [GRCh37]
ChrX:Xp21.3
uncertain significance|not provided
NM_139058.3(ARX):c.1671G>A (p.Thr557=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000532975]|History of neurodevelopmental disorder [RCV000718339]|not provided [RCV000415758]|not specified [RCV000082603] ChrX:25004688 [GRCh38]
ChrX:25022805 [GRCh37]
ChrX:Xp21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) deletion Epileptic encephalopathy, early infantile, 1 [RCV000463305]|History of neurodevelopmental disorder [RCV000720751]|Mental retardation, with or without seizures, ARX-related, X-linked [RCV000011954]|not specified [RCV000082604] ChrX:25013531..25013554 [GRCh38]
ChrX:25031648..25031671 [GRCh37]
ChrX:Xp21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) duplication Epileptic encephalopathy, early infantile, 1 [RCV000813194]|Lissencephaly 2, X-linked [RCV000192670]|not provided [RCV000082605] ChrX:25013530..25013531 [GRCh38]
ChrX:25031647..25031648 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.447_452GGCCGC[3] (p.Ala154_Ala155dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000696832]|not provided [RCV000082606] ChrX:25013536..25013537 [GRCh38]
ChrX:25031653..25031654 [GRCh37]
ChrX:Xp21.3
likely pathogenic|uncertain significance
NM_139058.2(ARX):c.590G>A (p.Gly197Asp) single nucleotide variant not provided [RCV000082607] ChrX:25013405 [GRCh38]
ChrX:25031522 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.593T>C (p.Val198Ala) single nucleotide variant not provided [RCV000082608] ChrX:25013402 [GRCh38]
ChrX:25031519 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.597G>A (p.Thr199=) single nucleotide variant not provided [RCV000082609] ChrX:25013398 [GRCh38]
ChrX:25031515 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.600C>T (p.His200=) single nucleotide variant not provided [RCV000082610] ChrX:25013395 [GRCh38]
ChrX:25031512 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.661A>G (p.Thr221Ala) single nucleotide variant not provided [RCV000082611] ChrX:25013334 [GRCh38]
ChrX:25031451 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.803T>G (p.Val268Gly) single nucleotide variant not provided [RCV000082612] ChrX:25013192 [GRCh38]
ChrX:25031309 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.2(ARX):c.921C>T (p.Gly307=) single nucleotide variant not provided [RCV000082613] ChrX:25013074 [GRCh38]
ChrX:25031191 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.980_983del (p.Lys327fs) deletion not provided [RCV000082614] ChrX:25013012..25013015 [GRCh38]
ChrX:25031129..25031132 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.2(ARX):c.983A>G (p.Gln328Arg) single nucleotide variant not provided [RCV000082615] ChrX:25013012 [GRCh38]
ChrX:25031129 [GRCh37]
ChrX:Xp21.3
not provided
NM_139058.3(ARX):c.543C>T (p.Pro181=) single nucleotide variant not specified [RCV000123690] ChrX:25013452 [GRCh38]
ChrX:25031569 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.3(ARX):c.1074-3T>C single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650187]|History of neurodevelopmental disorder [RCV000715142]|not specified [RCV000145037] ChrX:25010308 [GRCh38]
ChrX:25028425 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter) single nucleotide variant Lissencephaly 2, X-linked [RCV001002675] ChrX:25013470 [GRCh38]
ChrX:25031587 [GRCh37]
ChrX:Xp21.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001303155] ChrX:25007373 [GRCh38]
ChrX:25025490 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1141G>A (p.Ala381Thr) single nucleotide variant not provided [RCV000144762] ChrX:25007418 [GRCh38]
ChrX:25025535 [GRCh37]
ChrX:Xp21.3
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)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: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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.802G>T (p.Val268Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001088857]|not provided [RCV000650188]|not specified [RCV000144815] ChrX:25013193 [GRCh38]
ChrX:25031310 [GRCh37]
ChrX:Xp21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.1216G>A (p.Ala406Thr) single nucleotide variant not specified [RCV000144816] ChrX:25007343 [GRCh38]
ChrX:25025460 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1259C>T (p.Pro420Leu) single nucleotide variant not specified [RCV000144817] ChrX:25007300 [GRCh38]
ChrX:25025417 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) single nucleotide variant not provided [RCV000145038] ChrX:25010268 [GRCh38]
ChrX:25028385 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) single nucleotide variant Lissencephaly 2, X-linked [RCV000145039] ChrX:25007438 [GRCh38]
ChrX:25025555 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) single nucleotide variant Lissencephaly 2, X-linked [RCV000145040] ChrX:25007425 [GRCh38]
ChrX:25025542 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.1281C>T (p.Asp427=) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145041] ChrX:25007278 [GRCh38]
ChrX:25025395 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1300_1302GCC[8] (p.Ala440dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001088171]|History of neurodevelopmental disorder [RCV000719767]|Inborn genetic diseases [RCV000623262]|not provided [RCV000145042]|not specified [RCV000484947] ChrX:25007238..25007239 [GRCh38]
ChrX:25025355..25025356 [GRCh37]
ChrX:Xp21.3
benign|likely benign|uncertain significance
NM_139058.3(ARX):c.1372del (p.Ala458fs) deletion Lissencephaly 2, X-linked [RCV000145043] ChrX:25007187 [GRCh38]
ChrX:25025304 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1400G>T (p.Gly467Val) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145044] ChrX:25007159 [GRCh38]
ChrX:25025276 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) single nucleotide variant Lissencephaly 2, X-linked [RCV000145045] ChrX:25007145 [GRCh38]
ChrX:25025262 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1448G>A (p.Arg483Lys) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145046] ChrX:25007111 [GRCh38]
ChrX:25025228 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1465del (p.Ala489fs) deletion Epileptic encephalopathy, early infantile, 1 [RCV000011957]|Lissencephaly 2, X-linked [RCV000145047] ChrX:25004894 [GRCh38]
ChrX:25023011 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1544del (p.Gly515fs) deletion epileptic encephalopathy, early infanitle, 1 [RCV000145048] ChrX:25004815 [GRCh38]
ChrX:25022932 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.172del (p.Ala58fs) deletion not provided [RCV000145049] ChrX:25015566 [GRCh38]
ChrX:25033683 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.211A>T (p.Ser71Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001339860]|not provided [RCV000766468]|not specified [RCV000145050] ChrX:25013784 [GRCh38]
ChrX:25031901 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.216C>A (p.Ser72Arg) single nucleotide variant not provided [RCV000167562]|not specified [RCV000145051] ChrX:25013779 [GRCh38]
ChrX:25031896 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.306G>T (p.Ala102=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001087726]|epileptic encephalopathy, early infanitle, 1 [RCV000145052]|not provided [RCV000734606]|not specified [RCV000422244] ChrX:25013689 [GRCh38]
ChrX:25031806 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.306_308GGC[8] (p.Ala114_Ala115del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000228763]|not specified [RCV000145053] ChrX:25013660..25013665 [GRCh38]
ChrX:25031777..25031782 [GRCh37]
ChrX:Xp21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000990556]|Epileptic encephalopathy, early infantile, 1 [RCV001081429]|History of neurodevelopmental disorder [RCV000718543]|Inborn genetic diseases [RCV000624905]|not provided [RCV000152797]|not specified [RCV000145054] ChrX:25013659..25013660 [GRCh38]
ChrX:25031777..25031779 [GRCh37]
ChrX:Xp21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.335_368del (p.Ala112fs) deletion Lissencephaly 2, X-linked [RCV000145055] ChrX:25013627..25013660 [GRCh38]
ChrX:25031744..25031777 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.34G>T (p.Glu12Ter) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145056] ChrX:25015704 [GRCh38]
ChrX:25033821 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.454G>A (p.Ala152Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650175]|not provided [RCV000145057] ChrX:25013541 [GRCh38]
ChrX:25031658 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.617del (p.Gly206fs) deletion Lissencephaly 2, X-linked [RCV000145058] ChrX:25013378 [GRCh38]
ChrX:25031495 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.625G>C (p.Gly209Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001237911]|epileptic encephalopathy, early infanitle, 1 [RCV000145059]|not provided [RCV000428584] ChrX:25013370 [GRCh38]
ChrX:25031487 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.651G>T (p.Ala217=) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145060]|not specified [RCV000599952] ChrX:25013344 [GRCh38]
ChrX:25031461 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.807C>T (p.Ala269=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000868747]|History of neurodevelopmental disorder [RCV000720417]|not specified [RCV000145061] ChrX:25013188 [GRCh38]
ChrX:25031305 [GRCh37]
ChrX:Xp21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_139058.3(ARX):c.851C>A (p.Thr284Lys) single nucleotide variant not specified [RCV000145062] ChrX:25013144 [GRCh38]
ChrX:25031261 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.88G>T (p.Asp30Tyr) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145063] ChrX:25015650 [GRCh38]
ChrX:25033767 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) single nucleotide variant Lissencephaly 2, X-linked [RCV000145065] ChrX:25013000 [GRCh38]
ChrX:25031117 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.998C>G (p.Thr333Ser) single nucleotide variant epileptic encephalopathy, early infanitle, 1 [RCV000145067] ChrX:25012997 [GRCh38]
ChrX:25031114 [GRCh37]
ChrX:Xp21.3
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-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: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-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 Xp22.31-11.22(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-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(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 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely 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 Xp22.33-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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-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-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 Xp22.33-11.22(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-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 Xp22.33-11.22(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 Xp22.11-21.3(chrX:24249402-25137657)x3 copy number gain See cases [RCV000143452] ChrX:24249402..25137657 [GRCh38]
ChrX:24267519..25155774 [GRCh37]
ChrX:24177440..25065695 [NCBI36]
ChrX:Xp22.11-21.3
uncertain significance
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 Xp22.33-11.21(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 Xp22.11-21.3(chrX:24627016-25321278)x3 copy number gain See cases [RCV000143527] ChrX:24627016..25321278 [GRCh38]
ChrX:24645133..25339395 [GRCh37]
ChrX:24555054..25249316 [NCBI36]
ChrX:Xp22.11-21.3
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
NM_139058.2(ARX):c.333_335dupGCC duplication not provided [RCV000152797] ChrX:25031777..25031779 [GRCh37]
ChrX:Xp21.3
uncertain significance
Single allele duplication not provided [RCV000152799] ChrX:25025358..25025359 [GRCh37] uncertain significance
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_139058.3(ARX):c.306_308GGC[6] (p.Ala112_Ala115del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000812572]|not provided [RCV000724599]|not specified [RCV000175969] ChrX:25013660..25013671 [GRCh38]
ChrX:25031777..25031788 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.306_308GGC[13] (p.Ala113_Ala115dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001214290]|not provided [RCV000175970] ChrX:25013659..25013660 [GRCh38]
ChrX:25031776..25031777 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.336A>G (p.Ala112=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001082850]|not provided [RCV000175971] ChrX:25013659 [GRCh38]
ChrX:25031776 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.540G>T (p.Ala180=) single nucleotide variant not provided [RCV000175973] ChrX:25013455 [GRCh38]
ChrX:25031572 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001046771]|Inborn genetic diseases [RCV000624792]|Intellectual disability [RCV001249486]|not specified [RCV000193135] ChrX:25004798 [GRCh38]
ChrX:25022915 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) single nucleotide variant not provided [RCV000167561] ChrX:25013735 [GRCh38]
ChrX:25031852 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1269C>T (p.His423=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650183]|History of neurodevelopmental disorder [RCV000719313]|not provided [RCV000724610]|not specified [RCV000178385] ChrX:25007290 [GRCh38]
ChrX:25025407 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.1404G>C (p.Ala468=) single nucleotide variant not provided [RCV000178386] ChrX:25007155 [GRCh38]
ChrX:25025272 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.747G>A (p.Glu249=) single nucleotide variant not specified [RCV000195280] ChrX:25013248 [GRCh38]
ChrX:25031365 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) duplication Lissencephaly 2, X-linked [RCV000193636] ChrX:25013533..25013534 [GRCh38]
ChrX:25031650..25031651 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.2(ARX):c.333_334insGCG (p.Ala115_Thr116insAla) insertion not specified [RCV000194576] ChrX:25013661..25013662 [GRCh38]
ChrX:25031778..25031779 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.2(ARX):c.429_452del24 (p.Ala148_Ala155del) deletion not specified [RCV000194661] ChrX:25013543..25013566 [GRCh38]
ChrX:25031660..25031683 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.3(ARX):c.448_456GCCGCGGCC[1] (p.Ala153_Ala155del) microsatellite not specified [RCV000195117] ChrX:25013530..25013538 [GRCh38]
ChrX:25031647..25031655 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.2(ARX):c.304_305ins21 (p.?) insertion Lissencephaly 2, X-linked [RCV000194243] ChrX:25013690..25013691 [GRCh38]
ChrX:25031807..25031808 [GRCh37]
ChrX:Xp21.3
pathogenic|likely pathogenic|uncertain significance
NM_139058.3(ARX):c.1449-82_1469dup duplication Lissencephaly 2, X-linked [RCV000194440] ChrX:25004889..25004890 [GRCh38]
ChrX:25023006..25023007 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) insertion Lissencephaly 2, X-linked [RCV000194939] ChrX:25007394..25007395 [GRCh38]
ChrX:25025511..25025512 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1471dup (p.Leu491fs) duplication Lissencephaly 2, X-linked [RCV000195080] ChrX:25004887..25004888 [GRCh38]
ChrX:25023004..25023005 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.300G>A (p.Ala100=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001089016]|not provided [RCV000725344]|not specified [RCV000192540] ChrX:25013695 [GRCh38]
ChrX:25031812 [GRCh37]
ChrX:Xp21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.303A>G (p.Ala101=) single nucleotide variant not specified [RCV000193562] ChrX:25013692 [GRCh38]
ChrX:25031809 [GRCh37]
ChrX:Xp21.3
conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.613C>T (p.Leu205Phe) single nucleotide variant not specified [RCV000193867] ChrX:25013382 [GRCh38]
ChrX:25031499 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.441A>G (p.Ala147=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650185]|History of neurodevelopmental disorder [RCV000720962]|not specified [RCV000194099] ChrX:25013554 [GRCh38]
ChrX:25031671 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.196+6G>T single nucleotide variant not specified [RCV000194540] ChrX:25015536 [GRCh38]
ChrX:25033653 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.306_308GGC[18] (p.Ala108_Ala115dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000798531]|Lissencephaly 2, X-linked [RCV000192640] ChrX:25013659..25013660 [GRCh38]
ChrX:25031776..25031777 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) indel Lissencephaly 2, X-linked [RCV000192847] ChrX:25013432..25013433 [GRCh38]
ChrX:25031549..25031550 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1096del (p.Asp366fs) deletion Lissencephaly 2, X-linked [RCV000192868] ChrX:25010283 [GRCh38]
ChrX:25028400 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.409dup (p.Glu137fs) duplication Lissencephaly 2, X-linked [RCV000192991] ChrX:25013585..25013586 [GRCh38]
ChrX:25031702..25031703 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1337dup (p.Pro447fs) duplication Lissencephaly 2, X-linked [RCV000193341] ChrX:25007221..25007222 [GRCh38]
ChrX:25025338..25025339 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.2(ARX):c.315_335dup21 (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAla) duplication Lissencephaly 2, X-linked [RCV000193540] ChrX:25013660..25013680 [GRCh38]
ChrX:25031777..25031797 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1120-82_1469dup duplication Lissencephaly 2, X-linked [RCV000193893] ChrX:25004889..25004890 [GRCh38]
ChrX:25023006..25023007 [GRCh37]
ChrX:Xp21.3
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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_139058.3(ARX):c.989G>A (p.Arg330His) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001253064]|not provided [RCV000255677] ChrX:25013006 [GRCh38]
ChrX:25031123 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.1515A>G (p.Thr505=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000558656] ChrX:25004844 [GRCh38]
ChrX:25022961 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.306_308GGC[7] (p.Ala113_Ala115del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000557851]|not specified [RCV000605660] ChrX:25013660..25013668 [GRCh38]
ChrX:25031777..25031785 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) single nucleotide variant Mental retardation, with or without seizures, ARX-related, X-linked [RCV000209858] ChrX:25015572 [GRCh38]
ChrX:25033689 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.1170C>T (p.Gly390=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000764873]|History of neurodevelopmental disorder [RCV000719498]|not provided [RCV000217574] ChrX:25007389 [GRCh38]
ChrX:25025506 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.659_664GCACCG[3] (p.220_221GT[3]) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001307414]|not provided [RCV000216390] ChrX:25013324..25013325 [GRCh38]
ChrX:25031441..25031442 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) indel Epileptic encephalopathy, early infantile, 1 [RCV000209847] ChrX:25012988..25012993 [GRCh38]
ChrX:25031105..25031110 [GRCh37]
ChrX:Xp21.3
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
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000819987]|not provided [RCV000224602] ChrX:25015647 [GRCh38]
ChrX:25033764 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.148T>C (p.Leu50=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000233804]|not specified [RCV000438341] ChrX:25015590 [GRCh38]
ChrX:25033707 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_139058.3(ARX):c.776T>C (p.Leu259Pro) single nucleotide variant not provided [RCV000228315] ChrX:25013219 [GRCh38]
ChrX:25031336 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.453G>C (p.Ala151=) single nucleotide variant not provided [RCV000226587]|not specified [RCV000614240] ChrX:25013542 [GRCh38]
ChrX:25031659 [GRCh37]
ChrX:Xp21.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24006637-25035452)x2 copy number gain See cases [RCV000240096] ChrX:24006637..25035452 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(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
NM_139058.3(ARX):c.614_642del (p.Leu205fs) deletion not provided [RCV000272935] ChrX:25013353..25013381 [GRCh38]
ChrX:25031470..25031498 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.447G>C (p.Ala149=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001089020]|not provided [RCV000353204] ChrX:25013548 [GRCh38]
ChrX:25031665 [GRCh37]
ChrX:Xp21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.790del (p.Arg264fs) deletion Lissencephaly 2, X-linked [RCV000376192]|not provided [RCV000725938] ChrX:25013205 [GRCh38]
ChrX:25031322 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1321T>G (p.Phe441Val) single nucleotide variant not provided [RCV000371269] ChrX:25007238 [GRCh38]
ChrX:25025355 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_139058.3(ARX):c.1461A>G (p.Thr487=) single nucleotide variant not specified [RCV000603180] ChrX:25004898 [GRCh38]
ChrX:25023015 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.437C>T (p.Ala146Val) single nucleotide variant Mental retardation, with or without seizures, ARX-related, X-linked [RCV001270894] ChrX:25013558 [GRCh38]
ChrX:25031675 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1151G>A (p.Arg384His) single nucleotide variant not provided [RCV000488153] ChrX:25007408 [GRCh38]
ChrX:25025525 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1054T>C (p.Tyr352His) single nucleotide variant not provided [RCV000521199] ChrX:25012941 [GRCh38]
ChrX:25031058 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000585827] ChrX:25012956 [GRCh38]
ChrX:25031073 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000576761] ChrX:25004870 [GRCh38]
ChrX:25022987 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.306G>A (p.Ala102=) single nucleotide variant History of neurodevelopmental disorder [RCV000719284]|not provided [RCV000598157] ChrX:25013689 [GRCh38]
ChrX:25031806 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.845T>A (p.Val282Glu) single nucleotide variant Inborn genetic diseases [RCV000623594] ChrX:25013150 [GRCh38]
ChrX:25031267 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.110G>T (p.Ser37Ile) single nucleotide variant Inborn genetic diseases [RCV000623899] ChrX:25015628 [GRCh38]
ChrX:25033745 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.-83C>A single nucleotide variant not specified [RCV000518269] ChrX:25015820 [GRCh38]
ChrX:25033937 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.3(ARX):c.748G>T (p.Glu250Ter) single nucleotide variant not provided [RCV000723070] ChrX:25013247 [GRCh38]
ChrX:25031364 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.196G>A (p.Gly66Ser) single nucleotide variant not provided [RCV000414387] ChrX:25015542 [GRCh38]
ChrX:25033659 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.657T>C (p.Gly219=) single nucleotide variant not provided [RCV000731965] ChrX:25013338 [GRCh38]
ChrX:25031455 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.506T>A (p.Ile169Asn) single nucleotide variant not provided [RCV000729942] ChrX:25013489 [GRCh38]
ChrX:25031606 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_139058.3(ARX):c.1575_1578AGAC[1] (p.Arg527fs) microsatellite Generalized hypotonia [RCV000415350]|not provided [RCV001198238] ChrX:25004777..25004780 [GRCh38]
ChrX:25022894..25022897 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs) duplication not provided [RCV000412797] ChrX:25004759..25004760 [GRCh38]
ChrX:25022876..25022877 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.629G>C (p.Gly210Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001227161]|not provided [RCV000730840] ChrX:25013366 [GRCh38]
ChrX:25031483 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(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 Xp21.3(chrX:25025725-25025855)x3 copy number gain See cases [RCV000446805] ChrX:25025725..25025855 [GRCh37]
ChrX:Xp21.3
likely benign
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
NM_139058.3(ARX):c.-16G>T single nucleotide variant not specified [RCV000434338] ChrX:25015753 [GRCh38]
ChrX:25033870 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.558G>T (p.Pro186=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000551825]|not specified [RCV000441242] ChrX:25013437 [GRCh38]
ChrX:25031554 [GRCh37]
ChrX:Xp21.3
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.632C>T (p.Pro211Leu) single nucleotide variant not specified [RCV000417614] ChrX:25013363 [GRCh38]
ChrX:25031480 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1599C>A (p.Ala533=) single nucleotide variant not specified [RCV000417735] ChrX:25004760 [GRCh38]
ChrX:25022877 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.808G>A (p.Ala270Thr) single nucleotide variant not specified [RCV000427566] ChrX:25013187 [GRCh38]
ChrX:25031304 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1272G>T (p.Pro424=) single nucleotide variant not specified [RCV000441475] ChrX:25007287 [GRCh38]
ChrX:25025404 [GRCh37]
ChrX:Xp21.3
likely benign
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_139058.3(ARX):c.409G>A (p.Glu137Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000718272]|not provided [RCV000434632] ChrX:25013586 [GRCh38]
ChrX:25031703 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.811A>G (p.Thr271Ala) single nucleotide variant not provided [RCV000418194] ChrX:25013184 [GRCh38]
ChrX:25031301 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.*2G>C single nucleotide variant not specified [RCV000421315] ChrX:25004668 [GRCh38]
ChrX:25022785 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.950G>A (p.Ser317Asn) single nucleotide variant not provided [RCV000428420] ChrX:25013045 [GRCh38]
ChrX:25031162 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1260T>G (p.Pro420=) single nucleotide variant not specified [RCV000435602] ChrX:25007299 [GRCh38]
ChrX:25025416 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.557C>A (p.Pro186Gln) single nucleotide variant not provided [RCV000432343] ChrX:25013438 [GRCh38]
ChrX:25031555 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.*20C>T single nucleotide variant not specified [RCV000443519] ChrX:25004650 [GRCh38]
ChrX:25022767 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1377G>A (p.Pro459=) single nucleotide variant not specified [RCV000443769] ChrX:25007182 [GRCh38]
ChrX:25025299 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.663C>T (p.Thr221=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000939446]|not specified [RCV000430009] ChrX:25013332 [GRCh38]
ChrX:25031449 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_139058.3(ARX):c.1119+6C>T single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001088866]|not provided [RCV000734488]|not specified [RCV000420138] ChrX:25010254 [GRCh38]
ChrX:25028371 [GRCh37]
ChrX:Xp21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_139058.3(ARX):c.1597G>A (p.Ala533Thr) single nucleotide variant not provided [RCV000426593] ChrX:25004762 [GRCh38]
ChrX:25022879 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.644C>A (p.Pro215Gln) single nucleotide variant not provided [RCV000444412] ChrX:25013351 [GRCh38]
ChrX:25031468 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.674A>T (p.Asp225Val) single nucleotide variant not provided [RCV000430378] ChrX:25013321 [GRCh38]
ChrX:25031438 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.223T>G (p.Phe75Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000466760]|Inborn genetic diseases [RCV000623849]|not provided [RCV000440603] ChrX:25013772 [GRCh38]
ChrX:25031889 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.681G>C (p.Glu227Asp) single nucleotide variant not provided [RCV000441157] ChrX:25013314 [GRCh38]
ChrX:25031431 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000990555]|not provided [RCV000442107]|not specified [RCV000779752] ChrX:25010274 [GRCh38]
ChrX:25028391 [GRCh37]
ChrX:Xp21.3
likely pathogenic|uncertain significance
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 Xp21.3(chrX:25025253-25025855)x2 copy number gain See cases [RCV000448643] ChrX:25025253..25025855 [GRCh37]
ChrX:Xp21.3
likely benign
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_139058.3(ARX):c.1310_1311insGGC (p.Ala440dup) insertion not specified [RCV000479235] ChrX:25007248..25007249 [GRCh38]
ChrX:25025365..25025366 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1293_1298TGCCGC[1] (p.Ala439_Ala440del) microsatellite not specified [RCV000483403] ChrX:25007255..25007260 [GRCh38]
ChrX:25025372..25025377 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.389C>A (p.Pro130Gln) single nucleotide variant not provided [RCV000479507] ChrX:25013606 [GRCh38]
ChrX:25031723 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.825C>T (p.Ala275=) single nucleotide variant not provided [RCV000466295] ChrX:25013170 [GRCh38]
ChrX:25031287 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000470846] ChrX:25012954 [GRCh38]
ChrX:25031071 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.303_326dup (p.Ala108_Ala115dup) duplication not provided [RCV000482315] ChrX:25013668..25013669 [GRCh38]
ChrX:25031785..25031786 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.921C>A (p.Gly307=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000456544]|History of neurodevelopmental disorder [RCV000718561] ChrX:25013074 [GRCh38]
ChrX:25031191 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.306_308GGC[12] (p.Ala114_Ala115dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000537872]|not specified [RCV000480696] ChrX:25013659..25013660 [GRCh38]
ChrX:25031776..25031777 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1059G>A (p.Pro353=) single nucleotide variant not provided [RCV000471809] ChrX:25012936 [GRCh38]
ChrX:25031053 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.267C>T (p.Tyr89=) single nucleotide variant not provided [RCV000457125] ChrX:25013728 [GRCh38]
ChrX:25031845 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.306_308GGC[9] (p.Ala115del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000471578]|History of neurodevelopmental disorder [RCV000717613]|not specified [RCV000485479] ChrX:25013660..25013662 [GRCh38]
ChrX:25031777..25031779 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_139058.3(ARX):c.304_345dup (p.Ala102_Ala115dup) duplication not provided [RCV000484667] ChrX:25013649..25013650 [GRCh38]
ChrX:25031766..25031767 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1612A>G (p.Lys538Glu) single nucleotide variant not provided [RCV000485667] ChrX:25004747 [GRCh38]
ChrX:25022864 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.855G>A (p.Glu285=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000462096]|not specified [RCV000504068] ChrX:25013140 [GRCh38]
ChrX:25031257 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1300_1302GCC[6] (p.Ala440del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000458511]|History of neurodevelopmental disorder [RCV000719153]|Mental retardation, with or without seizures, ARX-related, X-linked [RCV001196746] ChrX:25007239..25007241 [GRCh38]
ChrX:25025356..25025358 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_139058.3(ARX):c.1135C>G (p.Arg379Gly) single nucleotide variant not specified [RCV000500803] ChrX:25007424 [GRCh38]
ChrX:25025541 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1065_1066insCTTGTC (p.Phe356_Thr357insLeuVal) insertion not specified [RCV000503239] ChrX:25012929..25012930 [GRCh38]
ChrX:25031046..25031047 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.1141del (p.Ala381fs) deletion Lissencephaly 2, X-linked [RCV000499705] ChrX:25007418 [GRCh38]
ChrX:25025535 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs) indel Hydranencephaly with abnormal genitalia [RCV000499805] ChrX:25004810..25004824 [GRCh38]
ChrX:25022927..25022941 [GRCh37]
ChrX:Xp21.3
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
NM_139058.3(ARX):c.1462A>G (p.Met488Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001214951]|not specified [RCV000503084] ChrX:25004897 [GRCh38]
ChrX:25023014 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24650157-25310366)x2 copy number gain See cases [RCV000510354] ChrX:24650157..25310366 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
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
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 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
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
NM_139058.3(ARX):c.551C>G (p.Pro184Arg) single nucleotide variant not specified [RCV000493334] ChrX:25013444 [GRCh38]
ChrX:25031561 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_139058.3(ARX):c.1300_1302GCC[9] (p.Ala439_Ala440dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001316569]|not provided [RCV001311829]|not specified [RCV000600211] ChrX:25007238..25007239 [GRCh38]
ChrX:25025355..25025356 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.509G>A (p.Ser170Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000536507] ChrX:25013486 [GRCh38]
ChrX:25031603 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.922G>T (p.Glu308Ter) single nucleotide variant Inborn genetic diseases [RCV000624744] ChrX:25013073 [GRCh38]
ChrX:25031190 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1521C>A (p.Ala507=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650186]|not specified [RCV000607313] ChrX:25004838 [GRCh38]
ChrX:25022955 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_139058.3(ARX):c.708T>C (p.Asp236=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650181]|not specified [RCV000609453] ChrX:25013287 [GRCh38]
ChrX:25031404 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.-37C>A single nucleotide variant not specified [RCV000612603] ChrX:25015774 [GRCh38]
ChrX:25033891 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.165C>G (p.Thr55=) single nucleotide variant not specified [RCV000612899] ChrX:25015573 [GRCh38]
ChrX:25033690 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.596C>G (p.Thr199Arg) single nucleotide variant not specified [RCV000616200] ChrX:25013399 [GRCh38]
ChrX:25031516 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1533A>G (p.Ala511=) single nucleotide variant not specified [RCV000607392] ChrX:25004826 [GRCh38]
ChrX:25022943 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1263G>C (p.Pro421=) single nucleotide variant not specified [RCV000610575] ChrX:25007296 [GRCh38]
ChrX:25025413 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650176] ChrX:25007171 [GRCh38]
ChrX:25025288 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650177] ChrX:25013780 [GRCh38]
ChrX:25031897 [GRCh37]
ChrX:Xp21.3
benign|uncertain significance
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del) deletion Epileptic encephalopathy, early infantile, 1 [RCV000650178] ChrX:25013654..25013674 [GRCh38]
ChrX:25031771..25031791 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) deletion Epileptic encephalopathy, early infantile, 1 [RCV000650179] ChrX:25013231..25013293 [GRCh38]
ChrX:25031348..25031410 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.663C>G (p.Thr221=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650180]|not provided [RCV000842158] ChrX:25013332 [GRCh38]
ChrX:25031449 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.351C>A (p.Ala117=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650184] ChrX:25013644 [GRCh38]
ChrX:25031761 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.264G>A (p.Leu88=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650189] ChrX:25013731 [GRCh38]
ChrX:25031848 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.602C>A (p.Pro201Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650190] ChrX:25013393 [GRCh38]
ChrX:25031510 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.642C>A (p.Ala214=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000650191] ChrX:25013353 [GRCh38]
ChrX:25031470 [GRCh37]
ChrX:Xp21.3
likely benign
NC_000023.10:g.(?_25022767)_(25033874_?)dup duplication Epileptic encephalopathy, early infantile, 1 [RCV000650193] ChrX:25004650..25015757 [GRCh38]
ChrX:25022767..25033874 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.678C>T (p.Asp226=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000525572] ChrX:25013317 [GRCh38]
ChrX:25031434 [GRCh37]
ChrX:Xp21.3
likely benign
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_139058.3(ARX):c.611G>A (p.Arg204His) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000981667]|Inborn genetic diseases [RCV000623588] ChrX:25013384 [GRCh38]
ChrX:25031501 [GRCh37]
ChrX:Xp21.3
likely benign|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_139058.3(ARX):c.945G>A (p.Ala315=) single nucleotide variant not provided [RCV000659147] ChrX:25013050 [GRCh38]
ChrX:25031167 [GRCh37]
ChrX:Xp21.3
uncertain significance
Single allele duplication not provided [RCV000677992] ChrX:24674284..25094832 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3 copy number gain not provided [RCV000684291] ChrX:23371361..25493197 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
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 Xp22.33-11.23(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 Xp22.11-21.1(chrX:24650157-31844543)x2 copy number gain not provided [RCV000684294] ChrX:24650157..31844543 [GRCh37]
ChrX:Xp22.11-21.1
pathogenic
NM_139058.3(ARX):c.930C>T (p.Ser310=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000701316] ChrX:25013065 [GRCh38]
ChrX:25031182 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe) indel Epileptic encephalopathy, early infantile, 1 [RCV000685411] ChrX:25013520..25013521 [GRCh38]
ChrX:25031637..25031638 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.87C>G (p.Ile29Met) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000695215] ChrX:25015651 [GRCh38]
ChrX:25033768 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000705004]|Epileptic encephalopathy, early infantile, 1 [RCV000764874]|not specified [RCV000779753] ChrX:25015551 [GRCh38]
ChrX:25033668 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1668C>T (p.Ser556=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000705401]|not provided [RCV000842306] ChrX:25004691 [GRCh38]
ChrX:25022808 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.769C>G (p.Arg257Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000703096] ChrX:25013226 [GRCh38]
ChrX:25031343 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.904G>C (p.Ala302Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000688886] ChrX:25013091 [GRCh38]
ChrX:25031208 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.766G>C (p.Ala256Pro) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000699383] ChrX:25013229 [GRCh38]
ChrX:25031346 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs) deletion Epileptic encephalopathy, early infantile, 1 [RCV000695939] ChrX:25004799..25004839 [GRCh38]
ChrX:25022916..25022956 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.441A>C (p.Ala147=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000867206]|History of neurodevelopmental disorder [RCV000717602] ChrX:25013554 [GRCh38]
ChrX:25031671 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) single nucleotide variant History of neurodevelopmental disorder [RCV000717431] ChrX:25004909 [GRCh38]
ChrX:25023026 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000718358]|not provided [RCV000863534] ChrX:25007312 [GRCh38]
ChrX:25025429 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_139058.3(ARX):c.1300_1302GCC[10] (p.Ala438_Ala440dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV000818033]|History of neurodevelopmental disorder [RCV000720244] ChrX:25007238..25007239 [GRCh38]
ChrX:25025355..25025356 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) duplication History of neurodevelopmental disorder [RCV000720716] ChrX:25013545..25013546 [GRCh38]
ChrX:25031662..25031663 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.404C>T (p.Pro135Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000719829] ChrX:25013591 [GRCh38]
ChrX:25031708 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) deletion Epileptic encephalopathy, early infantile, 1 [RCV001253636]|History of neurodevelopmental disorder [RCV000720263]|not provided [RCV000722715] ChrX:25013530..25013544 [GRCh38]
ChrX:25031647..25031661 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.1261C>A (p.Pro421Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000721047] ChrX:25007298 [GRCh38]
ChrX:25025415 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.318G>C (p.Ala106=) single nucleotide variant not provided [RCV000939468] ChrX:25013677 [GRCh38]
ChrX:25031794 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) deletion Mental retardation, with or without seizures, ARX-related, X-linked [RCV000755691] ChrX:25007176..25007185 [GRCh38]
ChrX:25025293..25025302 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.1605G>C (p.Leu535=) single nucleotide variant not provided [RCV000762614] ChrX:25004754 [GRCh38]
ChrX:25022871 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.669C>A (p.Thr223=) single nucleotide variant not provided [RCV000943334] ChrX:25013326 [GRCh38]
ChrX:25031443 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1599C>G (p.Ala533=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000868394] ChrX:25004760 [GRCh38]
ChrX:25022877 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1104C>T (p.Thr368=) single nucleotide variant not provided [RCV000937123] ChrX:25010275 [GRCh38]
ChrX:25028392 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1488C>T (p.Thr496=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000865069] ChrX:25004871 [GRCh38]
ChrX:25022988 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1572C>T (p.Ala524=) single nucleotide variant not provided [RCV000867328] ChrX:25004787 [GRCh38]
ChrX:25022904 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del) deletion Epileptic encephalopathy, early infantile, 1 [RCV001034298] ChrX:25013537..25013557 [GRCh38]
ChrX:25031654..25031674 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.662C>T (p.Thr221Ile) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001039896] ChrX:25013333 [GRCh38]
ChrX:25031450 [GRCh37]
ChrX:Xp21.3
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_139058.3(ARX):c.1589C>G (p.Ser530Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001089719] ChrX:25004770 [GRCh38]
ChrX:25022887 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.553C>T (p.Pro185Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001048046] ChrX:25013442 [GRCh38]
ChrX:25031559 [GRCh37]
ChrX:Xp21.3
uncertain significance
ARX, ARG2085HIS variation Mental retardation, with or without seizures, ARX-related, X-linked [RCV000768673] ChrX:Xp21.3 pathogenic
NM_139058.3(ARX):c.1033C>A (p.Arg345=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000940083] ChrX:25012962 [GRCh38]
ChrX:25031079 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1182C>T (p.His394=) single nucleotide variant not provided [RCV000982606] ChrX:25007377 [GRCh38]
ChrX:25025494 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1569G>C (p.Ala523=) single nucleotide variant not provided [RCV000980866] ChrX:25004790 [GRCh38]
ChrX:25022907 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1491G>T (p.Ala497=) single nucleotide variant not provided [RCV000980981] ChrX:25004868 [GRCh38]
ChrX:25022985 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1448+9C>A single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000868379] ChrX:25007102 [GRCh38]
ChrX:25025219 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1209G>A (p.Pro403=) single nucleotide variant not provided [RCV000980106] ChrX:25007350 [GRCh38]
ChrX:25025467 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.586G>C (p.Gly196Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000817345]|Inborn genetic diseases [RCV001265952] ChrX:25013409 [GRCh38]
ChrX:25031526 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000799400] ChrX:25007333 [GRCh38]
ChrX:25025450 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000817657] ChrX:25013577 [GRCh38]
ChrX:25031694 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000821192] ChrX:25013441 [GRCh38]
ChrX:25031558 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.629G>T (p.Gly210Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000821223]|Mental retardation, with or without seizures, ARX-related, X-linked [RCV001332907] ChrX:25013366 [GRCh38]
ChrX:25031483 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.158C>G (p.Pro53Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000821411] ChrX:25015580 [GRCh38]
ChrX:25033697 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000821543] ChrX:25004780 [GRCh38]
ChrX:25022897 [GRCh37]
ChrX:Xp21.3
uncertain significance
NC_000023.10:g.(?_25013922)_(25025556_?)dup duplication Epileptic encephalopathy, early infantile, 1 [RCV000796785] ChrX:24995805..25007439 [GRCh38]
ChrX:25013922..25025556 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1479C>G (p.Ser493Arg) single nucleotide variant not provided [RCV000999357] ChrX:25004880 [GRCh38]
ChrX:25022997 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) deletion Epileptic encephalopathy, early infantile, 1 [RCV000990553] ChrX:25007131..25007145 [GRCh38]
ChrX:25025248..25025262 [GRCh37]
ChrX:Xp21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000785913] ChrX:25015654 [GRCh38]
ChrX:25033771 [GRCh37]
ChrX:Xp21.3
likely pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24619903-25140021)x3 copy number gain not provided [RCV000849277] ChrX:24619903..25140021 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
NM_139058.3(ARX):c.411A>C (p.Glu137Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000809484] ChrX:25013584 [GRCh38]
ChrX:25031701 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.196+129_1073+903del deletion ARX-associated condition [RCV000791289] ChrX:25012019..25015413 [GRCh38]
ChrX:25030136..25033530 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1120-157C>G single nucleotide variant not provided [RCV000836429] ChrX:25007596 [GRCh38]
ChrX:25025713 [GRCh37]
ChrX:Xp21.3
benign
NM_139058.3(ARX):c.348G>A (p.Thr116=) single nucleotide variant not provided [RCV000942984] ChrX:25013647 [GRCh38]
ChrX:25031764 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000822062]|Intellectual disability [RCV001251911] ChrX:25013384 [GRCh38]
ChrX:25031501 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NC_000023.10:g.(?_25028377)_(25033854_?)dup duplication Epileptic encephalopathy, early infantile, 1 [RCV000796784] ChrX:25010260..25015737 [GRCh38]
ChrX:25028377..25033854 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.279G>A (p.Gly93=) single nucleotide variant not provided [RCV000941214] ChrX:25013716 [GRCh38]
ChrX:25031833 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.126G>A (p.Arg42=) single nucleotide variant not provided [RCV000841476] ChrX:25015612 [GRCh38]
ChrX:25033729 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) insertion Epileptic encephalopathy, early infantile, 1 [RCV000794657] ChrX:25004803..25004804 [GRCh38]
ChrX:25022920..25022921 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.771C>T (p.Arg257=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000820325]|Epileptic encephalopathy, early infantile, 1 [RCV001332908] ChrX:25013224 [GRCh38]
ChrX:25031341 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1674C>A (p.Gly558=) single nucleotide variant not provided [RCV000976781] ChrX:25004685 [GRCh38]
ChrX:25022802 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg) single nucleotide variant Mental retardation, with or without seizures, ARX-related, X-linked [RCV001194621] ChrX:25007355 [GRCh38]
ChrX:25025472 [GRCh37]
ChrX:Xp21.3
benign
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
NM_139058.3(ARX):c.1073+9G>C single nucleotide variant not provided [RCV000936299] ChrX:25012913 [GRCh38]
ChrX:25031030 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1209G>C (p.Pro403=) single nucleotide variant not provided [RCV000999358] ChrX:25007350 [GRCh38]
ChrX:25025467 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1446_1448+1dup duplication Intellectual disability [RCV000850213] ChrX:25007109..25007110 [GRCh38]
ChrX:25025226..25025227 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) duplication Epileptic encephalopathy, early infantile, 1 [RCV001009556]|Epileptic encephalopathy, early infantile, 1 [RCV001227606] ChrX:25013539..25013540 [GRCh38]
ChrX:25031656..25031657 [GRCh37]
ChrX:Xp21.3
uncertain significance|not provided
NM_139058.3(ARX):c.742G>C (p.Glu248Gln) single nucleotide variant not provided [RCV000999359] ChrX:25013253 [GRCh38]
ChrX:25031370 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) deletion Epileptic encephalopathy, early infantile, 1 [RCV000990552] ChrX:25004739..25004766 [GRCh38]
ChrX:25022856..25022883 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.714C>G (p.Asp238Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001217722] ChrX:25013281 [GRCh38]
ChrX:25031398 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001223373]|Intellectual disability [RCV001261373] ChrX:25013434..25013435 [GRCh38]
ChrX:25031551..25031552 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.398C>T (p.Ala133Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001235081] ChrX:25013597 [GRCh38]
ChrX:25031714 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.155C>A (p.Ala52Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001231991] ChrX:25015583 [GRCh38]
ChrX:25033700 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1616C>T (p.Ala539Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001225881] ChrX:25004743 [GRCh38]
ChrX:25022860 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001238492] ChrX:25007373 [GRCh38]
ChrX:25025490 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.250A>C (p.Lys84Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001236434] ChrX:25013745 [GRCh38]
ChrX:25031862 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) deletion Epileptic encephalopathy, early infantile, 1 [RCV000990554] ChrX:25007168..25007190 [GRCh38]
ChrX:25025285..25025307 [GRCh37]
ChrX:Xp21.3
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_139058.3(ARX):c.1311C>A (p.Ala437=) single nucleotide variant not provided [RCV001093394] ChrX:25007248 [GRCh38]
ChrX:25025365 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.664G>C (p.Gly222Arg) single nucleotide variant not provided [RCV000869110] ChrX:25013331 [GRCh38]
ChrX:25031448 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.372G>A (p.Glu124=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV000867561] ChrX:25013623 [GRCh38]
ChrX:25031740 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1518C>G (p.Pro506=) single nucleotide variant not provided [RCV000959490] ChrX:25004841 [GRCh38]
ChrX:25022958 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.241C>T (p.Leu81=) single nucleotide variant not provided [RCV000920555] ChrX:25013754 [GRCh38]
ChrX:25031871 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.179C>T (p.Pro60Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001222190] ChrX:25015559 [GRCh38]
ChrX:25033676 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) duplication Epileptic encephalopathy, early infantile, 1 [RCV001222747] ChrX:25007219..25007220 [GRCh38]
ChrX:25025336..25025337 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1]) deletion Epileptic encephalopathy, early infantile, 1 [RCV001226880] ChrX:25013229..25013252 [GRCh38]
ChrX:25031346..25031369 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) deletion Epileptic encephalopathy, early infantile, 1 [RCV001244937] ChrX:25013678..25013692 [GRCh38]
ChrX:25031795..25031809 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) deletion Epileptic encephalopathy, early infantile, 1 [RCV001230061]|not provided [RCV001093393] ChrX:25004888 [GRCh38]
ChrX:25023005 [GRCh37]
ChrX:Xp21.3
pathogenic|uncertain significance
NM_139058.3(ARX):c.1587C>T (p.Ala529=) single nucleotide variant not provided [RCV000935939] ChrX:25004772 [GRCh38]
ChrX:25022889 [GRCh37]
ChrX:Xp21.3
likely benign
NM_139058.3(ARX):c.1129del (p.Gln377fs) deletion not provided [RCV001009066] ChrX:25007430 [GRCh38]
ChrX:25025547 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.449C>T (p.Ala150Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001228236] ChrX:25013546 [GRCh38]
ChrX:25031663 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.794G>A (p.Arg265His) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001219687] ChrX:25013201 [GRCh38]
ChrX:25031318 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.625G>A (p.Gly209Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001204695] ChrX:25013370 [GRCh38]
ChrX:25031487 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001211809] ChrX:25004884 [GRCh38]
ChrX:25023001 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.428G>C (p.Gly143Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001220243] ChrX:25013567 [GRCh38]
ChrX:25031684 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001170000] ChrX:25007306 [GRCh38]
ChrX:25025423 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001230060] ChrX:25004890 [GRCh38]
ChrX:25023007 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001003472] ChrX:25007115 [GRCh38]
ChrX:25025232 [GRCh37]
ChrX:Xp21.3
likely pathogenic
NM_139058.3(ARX):c.52dup (p.Ser18fs) duplication Abnormal synaptic transmission [RCV001003643] ChrX:25015685..25015686 [GRCh38]
ChrX:25033802..25033803 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001071777] ChrX:25012956 [GRCh38]
ChrX:25031073 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001202324] ChrX:25013529..25013530 [GRCh38]
ChrX:25031646..25031647 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001046513] ChrX:25007232 [GRCh38]
ChrX:25025349 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001228805] ChrX:25004818 [GRCh38]
ChrX:25022935 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.8A>G (p.Asn3Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001246962] ChrX:25015730 [GRCh38]
ChrX:25033847 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001089499] ChrX:25004752 [GRCh38]
ChrX:25022869 [GRCh37]
ChrX:Xp21.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_139058.3(ARX):c.467G>A (p.Trp156Ter) single nucleotide variant not provided [RCV001093395] ChrX:25013528 [GRCh38]
ChrX:25031645 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001233444] ChrX:25004830 [GRCh38]
ChrX:25022947 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.11-21.3(chrX:24860361-25221642)x3 copy number gain not provided [RCV001007277] ChrX:24860361..25221642 [GRCh37]
ChrX:Xp22.11-21.3
likely pathogenic
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001231316] ChrX:25007424 [GRCh38]
ChrX:25025541 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.832G>A (p.Ala278Thr) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001065208] ChrX:25013163 [GRCh38]
ChrX:25031280 [GRCh37]
ChrX:Xp21.3
likely benign|uncertain significance
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001215936] ChrX:25013039 [GRCh38]
ChrX:25031156 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001253320] ChrX:25004813 [GRCh38]
ChrX:25022930 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1522G>A (p.Val508Met) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001253235] ChrX:25004837 [GRCh38]
ChrX:25022954 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001253619]|Intellectual disability [RCV001255345] ChrX:25007431 [GRCh38]
ChrX:25025548 [GRCh37]
ChrX:Xp21.3
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.11-21.3(chrX:24687736-25563452)x3 copy number gain not provided [RCV001259453] ChrX:24687736..25563452 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
NM_139058.3(ARX):c.368G>T (p.Gly123Val) single nucleotide variant Inborn genetic diseases [RCV001266767] ChrX:25013627 [GRCh38]
ChrX:25031744 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001262667] ChrX:25013049 [GRCh38]
ChrX:25031166 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1256_1260del (p.Phe419fs) deletion not provided [RCV001268190] ChrX:25007299..25007303 [GRCh38]
ChrX:25025416..25025420 [GRCh37]
ChrX:Xp21.3
pathogenic
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_139058.3(ARX):c.1684T>C (p.Cys562Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001262666] ChrX:25004675 [GRCh38]
ChrX:25022792 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del) deletion Epileptic encephalopathy, early infantile, 1 [RCV001350737] ChrX:25013530..25013562 [GRCh38]
ChrX:25031647..25031679 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.274G>C (p.Gly92Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001319051] ChrX:25013721 [GRCh38]
ChrX:25031838 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.346A>G (p.Thr116Ala) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001341990] ChrX:25013649 [GRCh38]
ChrX:25031766 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) microsatellite Lissencephaly 2, X-linked [RCV001289542] ChrX:25007332..25007333 [GRCh38]
ChrX:25025449..25025450 [GRCh37]
ChrX:Xp21.3
pathogenic
NM_139058.3(ARX):c.1449-3C>A single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001340038] ChrX:25004913 [GRCh38]
ChrX:25023030 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.664G>A (p.Gly222Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001348892] ChrX:25013331 [GRCh38]
ChrX:25031448 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001315467] ChrX:25004741 [GRCh38]
ChrX:25022858 [GRCh37]
ChrX:Xp21.3
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_139058.3(ARX):c.1471C>A (p.Leu491Met) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001307820] ChrX:25004888 [GRCh38]
ChrX:25023005 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del) microsatellite Epileptic encephalopathy, early infantile, 1 [RCV001312993] ChrX:25007239..25007247 [GRCh38]
ChrX:25025356..25025364 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.379C>T (p.Pro127Ser) single nucleotide variant Lissencephaly 2, X-linked [RCV001332906] ChrX:25013616 [GRCh38]
ChrX:25031733 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.336_338del (p.Ala115del) deletion Epileptic encephalopathy, early infantile, 1 [RCV001348800] ChrX:25013657..25013659 [GRCh38]
ChrX:25031774..25031776 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001332909] ChrX:25015658 [GRCh38]
ChrX:25033775 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.944C>T (p.Ala315Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001321985] ChrX:25013051 [GRCh38]
ChrX:25031168 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.440C>T (p.Ala147Val) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001323225] ChrX:25013555 [GRCh38]
ChrX:25031672 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.1299T>A (p.Ala433=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001344132] ChrX:25007260 [GRCh38]
ChrX:25025377 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.651G>A (p.Ala217=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001341320] ChrX:25013344 [GRCh38]
ChrX:25031461 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.516C>T (p.Ser172=) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001344467] ChrX:25013479 [GRCh38]
ChrX:25031596 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_139058.3(ARX):c.535G>C (p.Gly179Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 1 [RCV001306673] ChrX:25013460 [GRCh38]
ChrX:25031577 [GRCh37]
ChrX:Xp21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18060 AgrOrtholog
COSMIC ARX COSMIC
Ensembl Genes ENSG00000004848 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000368332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490122 UniProtKB/TrEMBL
Ensembl Transcript ENST00000379044 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000637993 UniProtKB/TrEMBL
GTEx ENSG00000004848 GTEx
HGNC ID HGNC:18060 ENTREZGENE
Human Proteome Map ARX Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  OAR_dom UniProtKB/Swiss-Prot
KEGG Report hsa:170302 UniProtKB/Swiss-Prot
NCBI Gene 170302 ENTREZGENE
OMIM 300004 OMIM
  300215 OMIM
  300382 OMIM
  300419 OMIM
  308350 OMIM
  309510 OMIM
Pfam Homeodomain UniProtKB/Swiss-Prot
  OAR UniProtKB/Swiss-Prot
PharmGKB PA25024 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
  OAR UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt A0A1B0GUI3_HUMAN UniProtKB/TrEMBL
  ARX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 ARX  aristaless related homeobox  MRX54  mental retardation, X-linked 54  Data Merged 737654 PROVISIONAL
2016-04-05 ARX  aristaless related homeobox  MRX36  mental retardation, X-linked 36  Data Merged 737654 PROVISIONAL
2016-04-05 ARX  aristaless related homeobox  MRX32  mental retardation, X-linked 32  Data Merged 737654 PROVISIONAL
2016-04-05 ARX  aristaless related homeobox  MRX29  mental retardation, X-linked 29  Data Merged 737654 PROVISIONAL
2016-04-05 ARX  aristaless related homeobox  MRX76  mental retardation, X-linked 76  Data Merged 737654 PROVISIONAL
2016-03-29 ARX  aristaless related homeobox  MRX43  mental retardation, X-linked 43  Data Merged 737654 PROVISIONAL
2016-03-25 ARX  aristaless related homeobox  MRX33  mental retardation, X-linked 33  Data Merged 737654 PROVISIONAL
2016-03-10 ARX  aristaless related homeobox  MRX38  mental retardation, X-linked 38  Data Merged 737654 PROVISIONAL
2011-08-16 ARX  aristaless related homeobox  ARX  aristaless related homeobox  Symbol and/or name change 5135510 APPROVED