IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) - Rat Genome Database

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Gene: IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) Homo sapiens
Analyze
Symbol: IQSEC2
Name: IQ motif and Sec7 domain ArfGEF 2
RGD ID: 1353175
HGNC Page HGNC
Description: Exhibits guanyl-nucleotide exchange factor activity. Involved in modulation of chemical synaptic transmission and regulation of neurotransmitter receptor localization to postsynaptic specialization membrane. Localizes to Schaffer collateral - CA1 synapse. Implicated in non-syndromic X-linked intellectual disability 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRAG1; brefeldin A resistant Arf-guanine nucleotide exchange factor 1; brefeldin A resistant Arf-guanine nucleotide exchange factor 1b; brefeldin A resistant Arf-guanine nucleotide exchange factor 1c; IQ motif and Sec7 domain 2; IQ motif and SEC7 domain-containing protein 2; IQ-ArfGEF; KIAA0522; mental retardation, X-linked 1 (non-dysmorphic); mental retardation, X-linked 18; mental retardation, X-linked 78; MRX1; MRX18; MRX78
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 EnsemblX53,225,828 - 53,321,350 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,225,784 - 53,321,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,262,058 - 53,350,548 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,278,783 - 53,327,521 (-)NCBINCBI36hg18NCBI36
CeleraX57,091,294 - 57,179,759 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,327,195 - 50,414,951 (-)NCBIHuRef
CHM1_1X53,252,281 - 53,340,767 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal tracheobronchial morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of the ureter  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Chronic otitis media  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Corticospinal tract hypoplasia  (IAGP)
Decreased fetal movement  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
EEG abnormality  (IAGP)
EEG with centrotemporal focal spike waves  (IAGP)
Facial palsy  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hoarse voice  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperacusis  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperkinetic movements  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertriglyceridemia  (IAGP)
Hyporeflexia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Impaired social interactions  (IAGP)
Inappropriate crying  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Joint stiffness  (IAGP)
Large face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Myopia  (IAGP)
Nasal speech  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Periorbital fullness  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Precocious puberty  (IAGP)
Progressive microcephaly  (IAGP)
Pyloric stenosis  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Retinal detachment  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Sleep disturbance  (IAGP)
Small for gestational age  (IAGP)
Specific learning disability  (IAGP)
Stereotypical hand wringing  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Taurodontia  (IAGP)
Tented upper lip vermilion  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Toe syndactyly  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1605216   PMID:3177466   PMID:7943039   PMID:9628581   PMID:12210308   PMID:12477932   PMID:14702039   PMID:14742722   PMID:15197169   PMID:15669143   PMID:15772651   PMID:16344560  
PMID:17045249   PMID:17221867   PMID:17623647   PMID:18029348   PMID:19322201   PMID:20473311   PMID:21479374   PMID:21686261   PMID:21873635   PMID:23674175   PMID:24306141   PMID:26059843  
PMID:26186194   PMID:26496610   PMID:26673895   PMID:26733290   PMID:26793055   PMID:26884337   PMID:27009485   PMID:27010919   PMID:27062609   PMID:27173435   PMID:27665735   PMID:28213671  
PMID:28295038   PMID:28514442   PMID:28815955   PMID:28986522   PMID:29180619   PMID:29676528   PMID:30206421   PMID:30328660   PMID:31234416   PMID:31439632  


Genomics

Comparative Map Data
IQSEC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,225,828 - 53,321,350 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,225,784 - 53,321,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,262,058 - 53,350,548 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,278,783 - 53,327,521 (-)NCBINCBI36hg18NCBI36
CeleraX57,091,294 - 57,179,759 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,327,195 - 50,414,951 (-)NCBIHuRef
CHM1_1X53,252,281 - 53,340,767 (-)NCBICHM1_1
Iqsec2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X150,927,179 - 151,008,233 (+)NCBIGRCm39mm39
GRCm39 EnsemblX150,927,264 - 151,008,232 (+)Ensembl
GRCm38X152,144,183 - 152,225,237 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,144,268 - 152,225,236 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X148,578,811 - 148,659,779 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X147,519,725 - 147,565,952 (+)NCBImm8
MGSCv36X129,187,494 - 129,233,721 (+)NCBImm8
CeleraX132,285,132 - 132,286,052 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Iqsec2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X21,254,799 - 21,337,179 (+)NCBI
Rnor_6.0 EnsemblX22,212,132 - 22,294,402 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X22,212,137 - 22,293,810 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X64,286,343 - 64,367,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X41,651,275 - 41,733,435 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX21,517,185 - 21,598,702 (+)NCBICelera
Cytogenetic MapXq13NCBI
Iqsec2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955475284,168 - 369,400 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955475285,977 - 369,380 (-)NCBIChiLan1.0ChiLan1.0
LOC100970467
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X53,557,847 - 53,604,744 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX53,557,563 - 53,644,737 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X45,447,977 - 45,535,836 (-)NCBIMhudiblu_PPA_v0panPan3
IQSEC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X44,861,813 - 44,915,011 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX44,872,888 - 44,913,704 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,516,736 - 36,595,958 (-)NCBI
ROS_Cfam_1.0X45,308,027 - 45,386,860 (-)NCBI
UMICH_Zoey_3.1X44,803,229 - 44,882,038 (-)NCBI
UNSW_CanFamBas_1.0X45,252,874 - 45,331,684 (-)NCBI
UU_Cfam_GSD_1.0X45,320,205 - 45,399,024 (-)NCBI
Iqsec2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X37,871,074 - 37,963,154 (-)NCBI
SpeTri2.0NW_004936751210,800 - 294,358 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IQSEC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX46,011,386 - 46,094,817 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X46,011,386 - 46,094,978 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X51,511,372 - 51,566,645 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IQSEC2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X49,363,569 - 49,452,872 (-)NCBI
ChlSab1.1 EnsemblX49,364,909 - 49,387,050 (-)Ensembl
Vero_WHO_p1.0NW_0236660863,317,401 - 3,407,594 (-)NCBI
Iqsec2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624909462,724 - 564,989 (-)NCBI

Position Markers
DXS1000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,290,543 - 53,290,799UniSTSGRCh37
CeleraX57,119,765 - 57,120,023UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX50,355,848 - 50,356,106UniSTS
Marshfield Genetic MapX52.5RGD
Genethon Genetic MapX87.7UniSTS
deCODE Assembly MapX77.14UniSTS
Whitehead-RH MapX69.6UniSTS
Whitehead-YAC Contig MapX UniSTS
G02075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,341,638 - 53,341,833UniSTSGRCh37
Build 36X53,358,363 - 53,358,558RGDNCBI36
CeleraX57,170,875 - 57,171,070RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,406,407 - 50,406,602UniSTS
DXS6953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,341,639 - 53,341,833UniSTSGRCh37
Build 36X53,358,364 - 53,358,558RGDNCBI36
CeleraX57,170,876 - 57,171,070RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,406,408 - 50,406,602UniSTS
UniSTS:98928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,333,338 - 53,333,434UniSTSGRCh37
Build 36X53,350,063 - 53,350,159RGDNCBI36
CeleraX57,162,575 - 57,162,671RGD
HuRefX50,398,087 - 50,398,183UniSTS
DXS1384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,341,736 - 53,341,815UniSTSGRCh37
Build 36X53,358,461 - 53,358,540RGDNCBI36
CeleraX57,170,973 - 57,171,052RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,406,505 - 50,406,584UniSTS
IQSEC2_9304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,261,880 - 53,262,700UniSTSGRCh37
Build 36X53,278,605 - 53,279,425RGDNCBI36
CeleraX57,091,116 - 57,091,936RGD
RH35765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,262,133 - 53,262,287UniSTSGRCh37
Build 36X53,278,858 - 53,279,012RGDNCBI36
CeleraX57,091,369 - 57,091,523RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,327,270 - 50,327,424UniSTS
GeneMap99-GB4 RH Map1167.04UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5003
Count of miRNA genes:1163
Interacting mature miRNAs:1460
Transcripts:ENST00000375365, ENST00000375368, ENST00000396435, ENST00000462054, ENST00000485377, ENST00000498281
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 58 3 58 8 13 9 387 246 1652 59 212 124 2 225
Low 2375 2789 1474 426 1269 266 3968 1919 2072 360 1244 1476 172 1 1204 2563 5 2
Below cutoff 5 195 192 189 538 189 1 31 8 4 11 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX119489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA433389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ154890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ154891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ154892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ154893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000375365   ⟹   ENSP00000364514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,234,110 - 53,281,614 (-)Ensembl
RefSeq Acc Id: ENST00000462054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,328 - 53,281,572 (-)Ensembl
RefSeq Acc Id: ENST00000485377   ⟹   ENSP00000491540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,329 - 53,281,594 (-)Ensembl
RefSeq Acc Id: ENST00000498281   ⟹   ENSP00000491470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,324 - 53,281,535 (-)Ensembl
RefSeq Acc Id: ENST00000638521   ⟹   ENSP00000492636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,228,823 - 53,250,527 (-)Ensembl
RefSeq Acc Id: ENST00000638583   ⟹   ENSP00000491820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,642 - 53,281,581 (-)Ensembl
RefSeq Acc Id: ENST00000638630   ⟹   ENSP00000492390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,251,095 - 53,281,612 (-)Ensembl
RefSeq Acc Id: ENST00000638869   ⟹   ENSP00000491736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,225,828 - 53,248,156 (-)Ensembl
RefSeq Acc Id: ENST00000639161   ⟹   ENSP00000491796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,328 - 53,281,598 (-)Ensembl
RefSeq Acc Id: ENST00000639485   ⟹   ENSP00000491996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,708 - 53,291,916 (-)Ensembl
RefSeq Acc Id: ENST00000639543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,279,155 - 53,281,578 (-)Ensembl
RefSeq Acc Id: ENST00000639642   ⟹   ENSP00000491892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,236,396 - 53,247,007 (-)Ensembl
RefSeq Acc Id: ENST00000639796   ⟹   ENSP00000492252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,225,831 - 53,238,286 (-)Ensembl
RefSeq Acc Id: ENST00000640005   ⟹   ENSP00000491293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,231,062 - 53,241,861 (-)Ensembl
RefSeq Acc Id: ENST00000640436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,235,096 - 53,239,584 (-)Ensembl
RefSeq Acc Id: ENST00000640442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,237,783 - 53,239,589 (-)Ensembl
RefSeq Acc Id: ENST00000640694   ⟹   ENSP00000492403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,232,874 - 53,321,319 (-)Ensembl
RefSeq Acc Id: ENST00000642864   ⟹   ENSP00000495726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,232,876 - 53,321,350 (-)Ensembl
RefSeq Acc Id: ENST00000674510   ⟹   ENSP00000502054
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,232,876 - 53,321,324 (-)Ensembl
RefSeq Acc Id: ENST00000674761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,241,150 - 53,248,446 (-)Ensembl
RefSeq Acc Id: ENST00000675719   ⟹   ENSP00000501927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,232,875 - 53,321,350 (-)Ensembl
RefSeq Acc Id: ENST00000675731   ⟹   ENSP00000502165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,266,339 - 53,282,026 (-)Ensembl
RefSeq Acc Id: NM_001111125   ⟹   NP_001104595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,876 - 53,321,350 (-)NCBI
GRCh37X53,262,058 - 53,350,522 (-)ENTREZGENE
HuRefX50,327,195 - 50,414,951 (-)ENTREZGENE
CHM1_1X53,252,281 - 53,340,767 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243197   ⟹   NP_001230126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,266,328 - 53,281,584 (-)NCBI
GRCh37X53,262,058 - 53,350,522 (-)NCBI
HuRefX50,327,195 - 50,414,951 (-)NCBI
CHM1_1X53,285,723 - 53,301,027 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015075   ⟹   NP_055890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,876 - 53,281,584 (-)NCBI
GRCh37X53,262,058 - 53,350,522 (-)ENTREZGENE
Build 36X53,278,783 - 53,327,521 (-)NCBI Archive
HuRefX50,327,195 - 50,414,951 (-)ENTREZGENE
CHM1_1X53,252,281 - 53,301,027 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724579   ⟹   XP_006724642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,875 - 53,321,356 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724580   ⟹   XP_006724643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,875 - 53,281,627 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724581   ⟹   XP_006724644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,227,927 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724582   ⟹   XP_006724645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,225,784 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724583   ⟹   XP_006724646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,231,729 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724584   ⟹   XP_006724647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,875 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530773   ⟹   XP_011529075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,875 - 53,281,627 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530774   ⟹   XP_011529076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,235,224 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530776   ⟹   XP_011529078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,236,502 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530777   ⟹   XP_011529079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,236,502 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029359   ⟹   XP_016884848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,875 - 53,321,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029360   ⟹   XP_016884849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,232,875 - 53,281,628 (-)NCBI
Sequence:
RefSeq Acc Id: XR_938365
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,236,502 - 53,321,344 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055890   ⟸   NM_015075
- Peptide Label: isoform 2
- UniProtKB: Q5JU85 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001104595   ⟸   NM_001111125
- Peptide Label: isoform 1
- UniProtKB: Q5JU85 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230126   ⟸   NM_001243197
- Peptide Label: isoform 3
- UniProtKB: A0A1W2PQN3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724645   ⟸   XM_006724582
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006724644   ⟸   XM_006724581
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006724646   ⟸   XM_006724583
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_006724642   ⟸   XM_006724579
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724643   ⟸   XM_006724580
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006724647   ⟸   XM_006724584
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011529075   ⟸   XM_011530773
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529076   ⟸   XM_011530774
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011529079   ⟸   XM_011530777
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011529078   ⟸   XM_011530776
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016884848   ⟸   XM_017029359
- Peptide Label: isoform X1
- UniProtKB: Q5JU85 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884849   ⟸   XM_017029360
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000491736   ⟸   ENST00000638869
RefSeq Acc Id: ENSP00000492390   ⟸   ENST00000638630
RefSeq Acc Id: ENSP00000491820   ⟸   ENST00000638583
RefSeq Acc Id: ENSP00000492636   ⟸   ENST00000638521
RefSeq Acc Id: ENSP00000492252   ⟸   ENST00000639796
RefSeq Acc Id: ENSP00000491796   ⟸   ENST00000639161
RefSeq Acc Id: ENSP00000491892   ⟸   ENST00000639642
RefSeq Acc Id: ENSP00000491996   ⟸   ENST00000639485
RefSeq Acc Id: ENSP00000364514   ⟸   ENST00000375365
RefSeq Acc Id: ENSP00000491293   ⟸   ENST00000640005
RefSeq Acc Id: ENSP00000492403   ⟸   ENST00000640694
RefSeq Acc Id: ENSP00000491470   ⟸   ENST00000498281
RefSeq Acc Id: ENSP00000495726   ⟸   ENST00000642864
RefSeq Acc Id: ENSP00000491540   ⟸   ENST00000485377
RefSeq Acc Id: ENSP00000502054   ⟸   ENST00000674510
RefSeq Acc Id: ENSP00000501927   ⟸   ENST00000675719
RefSeq Acc Id: ENSP00000502165   ⟸   ENST00000675731
Protein Domains
IQ   IQ_SEC7_PH   PH   SEC7

Promoters
RGD ID:13605368
Promoter ID:EPDNEW_H28868
Type:initiation region
Name:IQSEC2_1
Description:IQ motif and Sec7 domain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28869  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,281,582 - 53,281,642EPDNEW
RGD ID:13605370
Promoter ID:EPDNEW_H28869
Type:initiation region
Name:IQSEC2_2
Description:IQ motif and Sec7 domain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28868  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,321,350 - 53,321,410EPDNEW
RGD ID:6808955
Promoter ID:HG_KWN:66915
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_015075,   NR_024449,   OTTHUMT00000056746,   UC004DSF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,327,274 - 53,327,774 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs) duplication Mental retardation, X-linked 1 [RCV000547957] ChrX:53234247..53234248 [GRCh38]
ChrX:53263429..53263430 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.863del (p.Val288fs) deletion Mental retardation, X-linked 1 [RCV000555522] ChrX:53255936 [GRCh38]
ChrX:53285118 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4463T>C (p.Val1488Ala) single nucleotide variant not provided [RCV000520635] ChrX:53234223 [GRCh38]
ChrX:53263405 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000719096]|Mental retardation, X-linked 1 [RCV001087321]|not provided [RCV000838575] ChrX:53320781 [GRCh38]
ChrX:53349979 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro) single nucleotide variant Mental retardation, X-linked 1 [RCV001225429]|not provided [RCV000523266] ChrX:53238216 [GRCh38]
ChrX:53267398 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) single nucleotide variant not provided [RCV000831091] ChrX:53248847 [GRCh38]
ChrX:53278029 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.2889+1G>A single nucleotide variant Mental retardation, X-linked 1 [RCV000794238]|not provided [RCV000523673] ChrX:53243331 [GRCh38]
ChrX:53272513 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV000542100] ChrX:53320481 [GRCh38]
ChrX:53349679 [GRCh37]
ChrX:Xp11.22
benign|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_001111125.3(IQSEC2):c.1339G>A (p.Val447Ile) single nucleotide variant not specified [RCV000602599] ChrX:53254592 [GRCh38]
ChrX:53283774 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.445G>A (p.Ala149Thr) single nucleotide variant not provided [RCV000519765] ChrX:53320679 [GRCh38]
ChrX:53349877 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) single nucleotide variant Intellectual disability [RCV001260742]|Mental retardation, X-linked 1 [RCV000011609]|not provided [RCV000180207] ChrX:53247131 [GRCh38]
ChrX:53276313 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|uncertain significance
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) single nucleotide variant Mental retardation, X-linked 18 [RCV000011610] ChrX:53248778 [GRCh38]
ChrX:53277960 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV000011611] ChrX:53250303 [GRCh38]
ChrX:53279485 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV000011612] ChrX:53254856 [GRCh38]
ChrX:53284038 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1657C>T (p.Pro553Ser) single nucleotide variant not provided [RCV000521780] ChrX:53250919 [GRCh38]
ChrX:53280101 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) single nucleotide variant Inborn genetic diseases [RCV001267037]|Mental retardation, X-linked 1 [RCV001038976]|not provided [RCV000520389] ChrX:53234806 [GRCh38]
ChrX:53263988 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2749+1G>A single nucleotide variant not provided [RCV000519503] ChrX:53246968 [GRCh38]
ChrX:53276150 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV000114357] ChrX:53248133 [GRCh38]
ChrX:53277315 [GRCh37]
ChrX:Xp11.22
pathogenic
NC_000023.11:g.53254331_53296102dup duplication Mental retardation, X-linked 1 [RCV000114355] ChrX:53254331..53296102 [GRCh38]
ChrX:53283513..53325284 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001243197.1(IQSEC2):c.123-2226_*20117dup duplication Mental retardation, X-linked 1 [RCV000114356] ChrX:53246848..53269290 [GRCh38]
ChrX:53276030..53298472 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:10679-156022206)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)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22
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: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 Xp22.33-11.21(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 Xp22.33-11.1(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
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_001111125.3(IQSEC2):c.201G>C (p.Leu67=) single nucleotide variant not specified [RCV000117282] ChrX:53320923 [GRCh38]
ChrX:53350121 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) single nucleotide variant History of neurodevelopmental disorder [RCV000716365]|Mental retardation, X-linked 1 [RCV001086642]|not provided [RCV000117283]|not specified [RCV000422406] ChrX:53234696 [GRCh38]
ChrX:53263878 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.4314A>C (p.Pro1438=) single nucleotide variant not provided [RCV000117284] ChrX:53234372 [GRCh38]
ChrX:53263554 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) single nucleotide variant History of neurodevelopmental disorder [RCV000715058]|not provided [RCV000712007]|not specified [RCV000079473] ChrX:53234582 [GRCh38]
ChrX:53263764 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) single nucleotide variant History of neurodevelopmental disorder [RCV000715952]|Mental retardation, X-linked 1 [RCV001081818]|not provided [RCV000526236]|not specified [RCV000079474] ChrX:53320647 [GRCh38]
ChrX:53349845 [GRCh37]
ChrX:Xp11.22
benign|uncertain significance
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) single nucleotide variant History of neurodevelopmental disorder [RCV000715143]|Mental retardation, X-linked 1 [RCV001081112]|not provided [RCV000712005]|not specified [RCV000117281] ChrX:53250935 [GRCh38]
ChrX:53280117 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000715127]|Mental retardation, X-linked 1 [RCV000537746]|not provided [RCV000428252]|not specified [RCV000117285] ChrX:53234278 [GRCh38]
ChrX:53263460 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
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_001111125.3(IQSEC2):c.684C>T (p.Ser228=) single nucleotide variant Mental retardation, X-linked 1 [RCV001078777]|not provided [RCV000173213] ChrX:53320440 [GRCh38]
ChrX:53349638 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) single nucleotide variant not provided [RCV000724313]|not specified [RCV000173214] ChrX:53320902 [GRCh38]
ChrX:53350100 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer) deletion Inborn genetic diseases [RCV000190711] ChrX:53250523..53250524 [GRCh38]
ChrX:53279705..53279706 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr) single nucleotide variant Inborn genetic diseases [RCV000190773] ChrX:53248114 [GRCh38]
ChrX:53277296 [GRCh37]
ChrX:Xp11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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: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: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
NM_001111125.3(IQSEC2):c.4326A>C (p.Pro1442=) single nucleotide variant not provided [RCV000174860] ChrX:53234360 [GRCh38]
ChrX:53263542 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) single nucleotide variant Mental retardation, X-linked 1 [RCV001079323]|not provided [RCV000724583]|not specified [RCV000174861] ChrX:53234393 [GRCh38]
ChrX:53263575 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) single nucleotide variant Mental retardation, X-linked 1 [RCV000211090] ChrX:53248814 [GRCh38]
ChrX:53277996 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(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 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-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 Xp11.22(chrX:52975325-53610511)x3 copy number gain See cases [RCV000138363] ChrX:52975325..53610511 [GRCh38]
ChrX:53004505..53637472 [GRCh37]
ChrX:53021230..53654197 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 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 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp11.22(chrX:51707794-53229764)x0 copy number loss See cases [RCV000143765] ChrX:51707794..53229764 [GRCh38]
ChrX:51450890..53258946 [GRCh37]
ChrX:51467630..53275671 [NCBI36]
ChrX:Xp11.22
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
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) single nucleotide variant not provided [RCV000178833] ChrX:53250650 [GRCh38]
ChrX:53279832 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000720804]|Mental retardation, X-linked 1 [RCV001222587]|not provided [RCV000178834] ChrX:53250865 [GRCh38]
ChrX:53280047 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) single nucleotide variant not specified [RCV000193282] ChrX:53235023 [GRCh38]
ChrX:53264205 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) single nucleotide variant Mental retardation, X-linked 1 [RCV000909459]|not specified [RCV000194534] ChrX:53234951 [GRCh38]
ChrX:53264133 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.4416C>T (p.Pro1472=) single nucleotide variant not specified [RCV000195003] ChrX:53234270 [GRCh38]
ChrX:53263452 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3617G>C (p.Gly1206Ala) single nucleotide variant not specified [RCV000195053] ChrX:53235069 [GRCh38]
ChrX:53264251 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) single nucleotide variant Mental retardation, X-linked 1 [RCV000896175]|not specified [RCV000193216] ChrX:53320506 [GRCh38]
ChrX:53349704 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.3452-22G>A single nucleotide variant not specified [RCV000193859] ChrX:53235854 [GRCh38]
ChrX:53265036 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=) single nucleotide variant not specified [RCV000195035] ChrX:53239292 [GRCh38]
ChrX:53268474 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3205C>A (p.Arg1069=) single nucleotide variant not specified [RCV000192898] ChrX:53238217 [GRCh38]
ChrX:53267399 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1133G>A (p.Arg378His) single nucleotide variant not specified [RCV000193838] ChrX:53254798 [GRCh38]
ChrX:53283980 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3116-3_3116-2del microsatellite Mental retardation, X-linked 1 [RCV000190894] ChrX:53238308..53238309 [GRCh38]
ChrX:53267490..53267491 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2329G>T (p.Glu777Ter) single nucleotide variant not provided [RCV000294968] ChrX:53248851 [GRCh38]
ChrX:53278033 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV000546161] ChrX:53234533 [GRCh38]
ChrX:53263715 [GRCh37]
ChrX:Xp11.22
uncertain significance
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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=) single nucleotide variant Mental retardation, X-linked 1 [RCV000551738] ChrX:53254743 [GRCh38]
ChrX:53283925 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001111125.3(IQSEC2):c.3097C>T (p.Gln1033Ter) single nucleotide variant Intellectual disability [RCV000224400] ChrX:53239213 [GRCh38]
ChrX:53268395 [GRCh37]
ChrX:Xp11.22
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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=) single nucleotide variant not specified [RCV000601139] ChrX:53321103 [GRCh38]
ChrX:53350301 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) single nucleotide variant not provided [RCV000299883] ChrX:53250304 [GRCh38]
ChrX:53279486 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001251779]|not provided [RCV000369234] ChrX:53241815 [GRCh38]
ChrX:53270997 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) single nucleotide variant not provided [RCV000724082]|not specified [RCV000363540] ChrX:53248858 [GRCh38]
ChrX:53278040 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) deletion Inborn genetic diseases [RCV001266295]|Mental retardation, X-linked 1 [RCV000794024]|Severe intellectual deficiency [RCV000414905]|not provided [RCV000401090] ChrX:53255995 [GRCh38]
ChrX:53285177 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr) single nucleotide variant not specified [RCV000490206] ChrX:53234482 [GRCh38]
ChrX:53263664 [GRCh37]
ChrX:Xp11.22
pathogenic|uncertain significance
NM_001111125.3(IQSEC2):c.3278-5C>G single nucleotide variant not provided [RCV000489196] ChrX:53236500 [GRCh38]
ChrX:53265682 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3082G>A (p.Val1028Met) single nucleotide variant not provided [RCV000489682] ChrX:53239228 [GRCh38]
ChrX:53268410 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala) single nucleotide variant Mental retardation, X-linked 1 [RCV000795304]|not provided [RCV000522826] ChrX:53250907 [GRCh38]
ChrX:53280089 [GRCh37]
ChrX:Xp11.22
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
GRCh37/hg19 Xp11.22(chrX:52923471-53765589)x2 copy number gain Intellectual disability [RCV001270430] ChrX:52923471..53765589 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1825C>T (p.Arg609Cys) single nucleotide variant not provided [RCV000489894] ChrX:53250751 [GRCh38]
ChrX:53279933 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.600G>A (p.Arg200=) single nucleotide variant not provided [RCV000331246] ChrX:53320524 [GRCh38]
ChrX:53349722 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) single nucleotide variant Mental retardation, X-linked 1 [RCV000815571]|not provided [RCV000323891] ChrX:53320564 [GRCh38]
ChrX:53349762 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) single nucleotide variant not provided [RCV000724982]|not specified [RCV000394647] ChrX:53250881 [GRCh38]
ChrX:53280063 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=) single nucleotide variant not provided [RCV000938200]|not specified [RCV000605879] ChrX:53251148 [GRCh38]
ChrX:53280330 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000720456]|Mental retardation, X-linked 1 [RCV001294399]|not provided [RCV000591768] ChrX:53234664 [GRCh38]
ChrX:53263846 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.55_151delinsAT (p.Ala19fs) indel Mental retardation, X-linked 1 [RCV000656408] ChrX:53320973..53321069 [GRCh38]
ChrX:53350171..53350267 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.746G>C (p.Gly249Ala) single nucleotide variant Inborn genetic diseases [RCV000624024]|Mental retardation, X-linked 1 [RCV001215533] ChrX:53256053 [GRCh38]
ChrX:53285235 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3717_3719CCA[6] (p.His1247del) microsatellite Mental retardation, X-linked 1 [RCV000686977]|not specified [RCV000603281] ChrX:53234949..53234951 [GRCh38]
ChrX:53264131..53264133 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) deletion Mental retardation, X-linked 1 [RCV000647960]|not provided [RCV000598906] ChrX:53250900 [GRCh38]
ChrX:53280082 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3679C>T (p.Gln1227Ter) single nucleotide variant not provided [RCV000627334] ChrX:53235007 [GRCh38]
ChrX:53264189 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV000817336] ChrX:53250951 [GRCh38]
ChrX:53280133 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.503G>T (p.Arg168Leu) single nucleotide variant not specified [RCV000414505] ChrX:53320621 [GRCh38]
ChrX:53349819 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter) single nucleotide variant Autistic disorder of childhood onset [RCV000414794] ChrX:53243367 [GRCh38]
ChrX:53272549 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.2153G>A (p.Arg718Gln) single nucleotide variant not provided [RCV000728559] ChrX:53250423 [GRCh38]
ChrX:53279605 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2098G>T (p.Glu700Ter) single nucleotide variant not provided [RCV000522536] ChrX:53250478 [GRCh38]
ChrX:53279660 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=) single nucleotide variant Mental retardation, X-linked 1 [RCV000527598] ChrX:53320686 [GRCh38]
ChrX:53349884 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.294C>T (p.His98=) single nucleotide variant Mental retardation, X-linked 1 [RCV000531625] ChrX:53320830 [GRCh38]
ChrX:53350028 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) single nucleotide variant Intellectual disability [RCV000790432]|not provided [RCV001091938] ChrX:53250985 [GRCh38]
ChrX:53280167 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu) single nucleotide variant not specified [RCV000413374] ChrX:53320876 [GRCh38]
ChrX:53350074 [GRCh37]
ChrX:Xp11.22
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_001111125.3(IQSEC2):c.1000-9C>T single nucleotide variant Mental retardation, X-linked 1 [RCV000541567] ChrX:53254940 [GRCh38]
ChrX:53284122 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) single nucleotide variant Abnormality of brain morphology [RCV000454304]|History of neurodevelopmental disorder [RCV000718413]|Mental retardation, X-linked 1 [RCV000647967]|not provided [RCV001311388]|not specified [RCV001289062] ChrX:53236409 [GRCh38]
ChrX:53265591 [GRCh37]
ChrX:Xp11.22
likely pathogenic|benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.2477T>C (p.Met826Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV000449548] ChrX:53248219 [GRCh38]
ChrX:53277401 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) single nucleotide variant History of neurodevelopmental disorder [RCV000719071]|Mental retardation, X-linked 1 [RCV000549334]|not provided [RCV000859681]|not specified [RCV000417453] ChrX:53320689 [GRCh38]
ChrX:53349887 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3277+18G>A single nucleotide variant not specified [RCV000423691] ChrX:53238127 [GRCh38]
ChrX:53267309 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV000812666]|not specified [RCV000434159] ChrX:53234716 [GRCh38]
ChrX:53263898 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) single nucleotide variant History of neurodevelopmental disorder [RCV000718750]|Mental retardation, X-linked 1 [RCV001081247]|not provided [RCV000712006]|not specified [RCV000445018] ChrX:53248188 [GRCh38]
ChrX:53277370 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=) single nucleotide variant not specified [RCV000417618] ChrX:53320910 [GRCh38]
ChrX:53350108 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) single nucleotide variant Mental retardation, X-linked 1 [RCV000942744]|not specified [RCV000417680] ChrX:53243374 [GRCh38]
ChrX:53272556 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.*13G>C single nucleotide variant not specified [RCV000418123] ChrX:53234206 [GRCh38]
ChrX:53263388 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3278-14C>T single nucleotide variant not specified [RCV000424329] ChrX:53236509 [GRCh38]
ChrX:53265691 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) single nucleotide variant not specified [RCV000438384] ChrX:53243405 [GRCh38]
ChrX:53272587 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) single nucleotide variant History of neurodevelopmental disorder [RCV000717216]|Mental retardation, X-linked 1 [RCV000556486]|not specified [RCV000442062] ChrX:53235017 [GRCh38]
ChrX:53264199 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.405G>A (p.Arg135=) single nucleotide variant not specified [RCV000418435] ChrX:53320719 [GRCh38]
ChrX:53349917 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=) single nucleotide variant not specified [RCV000438681] ChrX:53250401 [GRCh38]
ChrX:53279583 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) single nucleotide variant History of neurodevelopmental disorder [RCV000715189]|Mental retardation, X-linked 1 [RCV000543157]|not specified [RCV000418659] ChrX:53248125 [GRCh38]
ChrX:53277307 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_001111125.3(IQSEC2):c.3451+17C>T single nucleotide variant Mental retardation, X-linked 1 [RCV001334782]|not specified [RCV000424985] ChrX:53236305 [GRCh38]
ChrX:53265487 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV000503313]|not provided [RCV000422126] ChrX:53243445 [GRCh38]
ChrX:53272627 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2297+14G>A single nucleotide variant not specified [RCV000419199] ChrX:53250265 [GRCh38]
ChrX:53279447 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) single nucleotide variant History of neurodevelopmental disorder [RCV000719673]|Inborn genetic diseases [RCV000622887]|Mental retardation, X-linked 1 [RCV000554930]|not specified [RCV000425177] ChrX:53320936 [GRCh38]
ChrX:53350134 [GRCh37]
ChrX:Xp11.22
benign|likely benign|not provided
NM_001111125.3(IQSEC2):c.2206C>T (p.Arg736Trp) single nucleotide variant not provided [RCV000425209] ChrX:53250370 [GRCh38]
ChrX:53279552 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) single nucleotide variant not specified [RCV000432305] ChrX:53250402 [GRCh38]
ChrX:53279584 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.234C>G (p.Gly78=) single nucleotide variant not specified [RCV000435630] ChrX:53320890 [GRCh38]
ChrX:53350088 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) single nucleotide variant Inborn genetic diseases [RCV001265942]|Mental retardation, X-linked 1 [RCV001048074]|not provided [RCV000425290] ChrX:53241816 [GRCh38]
ChrX:53270998 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.3015+14G>C single nucleotide variant not specified [RCV000425486] ChrX:53241770 [GRCh38]
ChrX:53270952 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) single nucleotide variant Mental retardation, X-linked 1 [RCV000540810]|not specified [RCV000435859] ChrX:53321040 [GRCh38]
ChrX:53350238 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=) single nucleotide variant not provided [RCV000560833]|not specified [RCV000429235] ChrX:53234480 [GRCh38]
ChrX:53263662 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) single nucleotide variant Mental retardation, X-linked 1 [RCV000898780]|not specified [RCV000439695] ChrX:53234816 [GRCh38]
ChrX:53263998 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) single nucleotide variant Mental retardation, X-linked 1 [RCV000796578]|not provided [RCV000428798] ChrX:53248189 [GRCh38]
ChrX:53277371 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.2889+10T>C single nucleotide variant not provided [RCV000940312]|not specified [RCV000436389] ChrX:53243322 [GRCh38]
ChrX:53272504 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) single nucleotide variant History of neurodevelopmental disorder [RCV000717948]|Mental retardation, X-linked 1 [RCV000647972]|not specified [RCV000440445] ChrX:53251127 [GRCh38]
ChrX:53280309 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.2297+13C>T single nucleotide variant not specified [RCV000440533] ChrX:53250266 [GRCh38]
ChrX:53279448 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) single nucleotide variant Mental retardation, X-linked 1 [RCV000897124]|not specified [RCV000444045] ChrX:53321004 [GRCh38]
ChrX:53350202 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2459+19G>A single nucleotide variant not specified [RCV000426693] ChrX:53248702 [GRCh38]
ChrX:53277884 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1402-10C>A single nucleotide variant Mental retardation, X-linked 1 [RCV000919792]|not specified [RCV000430167] ChrX:53251184 [GRCh38]
ChrX:53280366 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.2298-10C>T single nucleotide variant not specified [RCV000426743] ChrX:53248892 [GRCh38]
ChrX:53278074 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) single nucleotide variant Mental retardation, X-linked 1 [RCV000526095]|not specified [RCV000426860] ChrX:53255962 [GRCh38]
ChrX:53285144 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.567G>A (p.Ser189=) single nucleotide variant not specified [RCV000430579] ChrX:53320557 [GRCh38]
ChrX:53349755 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=) single nucleotide variant not specified [RCV000433792] ChrX:53234861 [GRCh38]
ChrX:53264043 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) single nucleotide variant Inborn genetic diseases [RCV000624706]|Mental retardation, X-linked 1 [RCV000926337]|not specified [RCV000437552] ChrX:53320546 [GRCh38]
ChrX:53349744 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.599G>C (p.Arg200Pro) single nucleotide variant Specific learning disability [RCV000416508] ChrX:53320525 [GRCh38]
ChrX:53349723 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) duplication Mental retardation, X-linked 1 [RCV000697019]|not provided [RCV000481040] ChrX:53234646..53234647 [GRCh38]
ChrX:53263828..53263829 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.3717_3719CCA[4] (p.His1245_His1247del) microsatellite not specified [RCV000484184] ChrX:53234949..53234957 [GRCh38]
ChrX:53264131..53264139 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp) single nucleotide variant not provided [RCV000484983] ChrX:53250832 [GRCh38]
ChrX:53280014 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter) single nucleotide variant not provided [RCV000484641] ChrX:53238172 [GRCh38]
ChrX:53267354 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2407A>G (p.Ile803Val) single nucleotide variant not provided [RCV000477973] ChrX:53248773 [GRCh38]
ChrX:53277955 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.296del (p.His99fs) deletion not provided [RCV000485376] ChrX:53320828 [GRCh38]
ChrX:53350026 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr) single nucleotide variant not provided [RCV000481982] ChrX:53250922 [GRCh38]
ChrX:53280104 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4300del (p.His1434fs) deletion not provided [RCV000485686] ChrX:53234386 [GRCh38]
ChrX:53263568 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3886C>T (p.Gln1296Ter) single nucleotide variant not provided [RCV000479004] ChrX:53234800 [GRCh38]
ChrX:53263982 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3793C>T (p.Gln1265Ter) single nucleotide variant not provided [RCV000479533] ChrX:53234893 [GRCh38]
ChrX:53264075 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs) duplication not provided [RCV000486666] ChrX:53234655..53234656 [GRCh38]
ChrX:53263837..53263838 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV000766097]|not provided [RCV000945870]|not specified [RCV000487196] ChrX:53320528 [GRCh38]
ChrX:53349726 [GRCh37]
ChrX:Xp11.22
benign|uncertain significance
NM_001111125.3(IQSEC2):c.3277+5G>A single nucleotide variant not provided [RCV000487277] ChrX:53238140 [GRCh38]
ChrX:53267322 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met) single nucleotide variant Mental retardation, X-linked 1 [RCV001207694]|not provided [RCV000487425] ChrX:53234227 [GRCh38]
ChrX:53263409 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001111125.3(IQSEC2):c.2021del (p.Gly674fs) deletion not provided [RCV000498651] ChrX:53250555 [GRCh38]
ChrX:53279737 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3548C>T (p.Pro1183Leu) single nucleotide variant not provided [RCV000498854] ChrX:53235138 [GRCh38]
ChrX:53264320 [GRCh37]
ChrX:Xp11.22
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_001111125.3(IQSEC2):c.965G>A (p.Ser322Asn) single nucleotide variant not specified [RCV000501337] ChrX:53255834 [GRCh38]
ChrX:53285016 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs) deletion Mental retardation, X-linked 1 [RCV000501694] ChrX:53250946..53250950 [GRCh38]
ChrX:53280128..53280132 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.942G>A (p.Lys314=) single nucleotide variant not specified [RCV000501865] ChrX:53255857 [GRCh38]
ChrX:53285039 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys) single nucleotide variant not specified [RCV000499563] ChrX:53250727 [GRCh38]
ChrX:53279909 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) single nucleotide variant not provided [RCV000497326] ChrX:53250298 [GRCh38]
ChrX:53279480 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) single nucleotide variant not specified [RCV000499696] ChrX:53250524 [GRCh38]
ChrX:53279706 [GRCh37]
ChrX:Xp11.22
likely benign
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_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) single nucleotide variant Mental retardation, X-linked 1 [RCV000950935]|not specified [RCV000499862] ChrX:53250984 [GRCh38]
ChrX:53280166 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys) single nucleotide variant not provided [RCV000497736] ChrX:53241843 [GRCh38]
ChrX:53271025 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.635G>A (p.Ser212Asn) single nucleotide variant not provided [RCV000497740] ChrX:53320489 [GRCh38]
ChrX:53349687 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2002A>G (p.Ser668Gly) single nucleotide variant not provided [RCV000497897] ChrX:53250574 [GRCh38]
ChrX:53279756 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.1(IQSEC2):c.3016dupG (p.Val1006Glyfs) duplication not provided [RCV000498101] ChrX:53239293..53239294 [GRCh38]
ChrX:53268476 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=) single nucleotide variant not specified [RCV000500778] ChrX:53234933 [GRCh38]
ChrX:53264115 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3502-2del deletion not provided [RCV000493556] ChrX:53235186 [GRCh38]
ChrX:53264368 [GRCh37]
ChrX:Xp11.22
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) single nucleotide variant not provided [RCV000494394] ChrX:53241888 [GRCh38]
ChrX:53271070 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647976] ChrX:53251022 [GRCh38]
ChrX:53280204 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647977] ChrX:53320617 [GRCh38]
ChrX:53349815 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV000553327] ChrX:53243390 [GRCh38]
ChrX:53272572 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) single nucleotide variant Mental retardation, X-linked 1 [RCV000529296]|not specified [RCV000607768] ChrX:53255812 [GRCh38]
ChrX:53284994 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647971] ChrX:53239229 [GRCh38]
ChrX:53268411 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647968] ChrX:53320425 [GRCh38]
ChrX:53349623 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV000647966] ChrX:53243444 [GRCh38]
ChrX:53272626 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1401+4A>G single nucleotide variant Mental retardation, X-linked 1 [RCV000647956] ChrX:53254526 [GRCh38]
ChrX:53283708 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr) single nucleotide variant Mental retardation, X-linked 1 [RCV000647955] ChrX:53234956 [GRCh38]
ChrX:53264138 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) single nucleotide variant Mental retardation, X-linked 1 [RCV000533245] ChrX:53250523 [GRCh38]
ChrX:53279705 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_001111125.3(IQSEC2):c.579C>A (p.Gly193=) single nucleotide variant not specified [RCV000602658] ChrX:53320545 [GRCh38]
ChrX:53349743 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=) single nucleotide variant History of neurodevelopmental disorder [RCV000719692]|not specified [RCV000607823] ChrX:53250344 [GRCh38]
ChrX:53279526 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2013G>T (p.Gly671=) single nucleotide variant not specified [RCV000609536] ChrX:53250563 [GRCh38]
ChrX:53279745 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=) single nucleotide variant not specified [RCV000615074] ChrX:53234576 [GRCh38]
ChrX:53263758 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=) single nucleotide variant Mental retardation, X-linked 1 [RCV000538845] ChrX:53250305 [GRCh38]
ChrX:53279487 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1287G>C (p.Gly429=) single nucleotide variant not specified [RCV000601299] ChrX:53254644 [GRCh38]
ChrX:53283826 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs) duplication Mental retardation, X-linked 1 [RCV000540202] ChrX:53250926..53250927 [GRCh38]
ChrX:53280108..53280109 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=) single nucleotide variant not specified [RCV000610060] ChrX:53250569 [GRCh38]
ChrX:53279751 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1341C>T (p.Val447=) single nucleotide variant not provided [RCV000978528]|not specified [RCV000615538] ChrX:53254590 [GRCh38]
ChrX:53283772 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) single nucleotide variant not specified [RCV000615889] ChrX:53236459 [GRCh38]
ChrX:53265641 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) single nucleotide variant Mental retardation, X-linked 1 [RCV000938408]|not specified [RCV000615968] ChrX:53236386 [GRCh38]
ChrX:53265568 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.504C>G (p.Arg168=) single nucleotide variant not specified [RCV000610197] ChrX:53320620 [GRCh38]
ChrX:53349818 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1402-11C>A single nucleotide variant not specified [RCV000616056] ChrX:53251185 [GRCh38]
ChrX:53280367 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.2297+7G>A single nucleotide variant not specified [RCV000602494] ChrX:53250272 [GRCh38]
ChrX:53279454 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=) single nucleotide variant not specified [RCV000613807] ChrX:53234687 [GRCh38]
ChrX:53263869 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) single nucleotide variant not specified [RCV000611346] ChrX:53241847 [GRCh38]
ChrX:53271029 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.2(IQSEC2):c.2582+19_2582+29delCGCGAAGCTGCins64 indel not specified [RCV000614090] ChrX:53248085..53248095 [GRCh38]
ChrX:53277267..53277277 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000719814]|not specified [RCV000608985] ChrX:53250951 [GRCh38]
ChrX:53280133 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.3502-15C>T single nucleotide variant not specified [RCV000603474] ChrX:53235199 [GRCh38]
ChrX:53264381 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=) single nucleotide variant not specified [RCV000609159] ChrX:53320449 [GRCh38]
ChrX:53349647 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=) single nucleotide variant not specified [RCV000614674] ChrX:53234441 [GRCh38]
ChrX:53263623 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=) single nucleotide variant Mental retardation, X-linked 1 [RCV000534564] ChrX:53234333 [GRCh38]
ChrX:53263515 [GRCh37]
ChrX:Xp11.22
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_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=) single nucleotide variant not specified [RCV000599991] ChrX:53238263 [GRCh38]
ChrX:53267445 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) single nucleotide variant Mental retardation, X-linked 1 [RCV000626231]|not provided [RCV000930381] ChrX:53239256 [GRCh38]
ChrX:53268438 [GRCh37]
ChrX:Xp11.22
benign|uncertain significance
NM_001111125.3(IQSEC2):c.2890-6G>A single nucleotide variant Mental retardation, X-linked 1 [RCV000647978] ChrX:53241915 [GRCh38]
ChrX:53271097 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647979] ChrX:53250710 [GRCh38]
ChrX:53279892 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647980] ChrX:53255839 [GRCh38]
ChrX:53285021 [GRCh37]
ChrX:Xp11.22
likely benign
NC_000023.10:g.(?_53263381)_(53449569_?)dup duplication Mental retardation, X-linked 1 [RCV000647981] ChrX:53263381..53449569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647975] ChrX:53320728 [GRCh38]
ChrX:53349926 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2750-9C>T single nucleotide variant Mental retardation, X-linked 1 [RCV000647974]|not provided [RCV000840143] ChrX:53243480 [GRCh38]
ChrX:53272662 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647970] ChrX:53320992 [GRCh38]
ChrX:53350190 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) single nucleotide variant Inborn genetic diseases [RCV001266784]|Mental retardation, X-linked 1 [RCV000647965]|not provided [RCV000762642] ChrX:53241890 [GRCh38]
ChrX:53271072 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=) single nucleotide variant not provided [RCV000647964] ChrX:53250956 [GRCh38]
ChrX:53280138 [GRCh37]
ChrX:Xp11.22
benign|uncertain significance
NM_001111125.3(IQSEC2):c.392G>C (p.Arg131Pro) single nucleotide variant Mental retardation, X-linked 1 [RCV000647963] ChrX:53320732 [GRCh38]
ChrX:53349930 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=) single nucleotide variant Mental retardation, X-linked 1 [RCV000647962] ChrX:53321100 [GRCh38]
ChrX:53350298 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs) deletion Mental retardation, X-linked 1 [RCV000647961] ChrX:53251018..53251025 [GRCh38]
ChrX:53280200..53280207 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV000647959] ChrX:53234295 [GRCh38]
ChrX:53263477 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1436_1603del (p.Leu479_Thr535delinsPro) deletion Mental retardation, X-linked 1 [RCV000647958] ChrX:53250973..53251140 [GRCh38]
ChrX:53280155..53280322 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His) single nucleotide variant Mental retardation, X-linked 1 [RCV000647957] ChrX:53255996 [GRCh38]
ChrX:53285178 [GRCh37]
ChrX:Xp11.22
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_001111125.3(IQSEC2):c.3849C>G (p.Leu1283=) single nucleotide variant not specified [RCV000606581] ChrX:53234837 [GRCh38]
ChrX:53264019 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1925dup (p.Ile643fs) duplication not provided [RCV000627522] ChrX:53250650..53250651 [GRCh38]
ChrX:53279832..53279833 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) single nucleotide variant not provided [RCV000902831]|not specified [RCV000601384] ChrX:53254755 [GRCh38]
ChrX:53283937 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.2579_2582+12del deletion not provided [RCV000658197] ChrX:53248102..53248117 [GRCh38]
ChrX:53277284..53277299 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) single nucleotide variant not provided [RCV000658331] ChrX:53256029 [GRCh38]
ChrX:53285211 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:53094819-53414375)x1 copy number loss not provided [RCV000659190] ChrX:53094819..53414375 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.2582+3G>T single nucleotide variant History of neurodevelopmental disorder [RCV000717010]|Mental retardation, X-linked 1 [RCV001323997] ChrX:53248111 [GRCh38]
ChrX:53277293 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.31C>T (p.Pro11Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716830] ChrX:53321093 [GRCh38]
ChrX:53350291 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.708-3C>T single nucleotide variant Mental retardation, X-linked 1 [RCV000688044] ChrX:53291927 [GRCh38]
ChrX:53321109 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV000696297] ChrX:53250997 [GRCh38]
ChrX:53280179 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV000702170] ChrX:53234850 [GRCh38]
ChrX:53264032 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2459+3G>A single nucleotide variant Mental retardation, X-linked 1 [RCV000692771]|not provided [RCV000840509] ChrX:53248718 [GRCh38]
ChrX:53277900 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) deletion Mental retardation, X-linked 1 [RCV000695740] ChrX:53255951 [GRCh38]
ChrX:53285133 [GRCh37]
ChrX:Xp11.22
pathogenic
NC_000023.10:g.(?_53349615)_(53410174_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000708248] ChrX:53349615..53410174 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp) single nucleotide variant Mental retardation, X-linked 1 [RCV000691052] ChrX:53250864 [GRCh38]
ChrX:53280046 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.1592G>A (p.Arg531Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV000696833] ChrX:53250984 [GRCh38]
ChrX:53280166 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV000686813] ChrX:53236386 [GRCh38]
ChrX:53265568 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His) single nucleotide variant Mental retardation, X-linked 1 [RCV000697904] ChrX:53234469 [GRCh38]
ChrX:53263651 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3944_3946del (p.Pro1315_Val1316delinsLeu) deletion Mental retardation, X-linked 1 [RCV000702171] ChrX:53234740..53234742 [GRCh38]
ChrX:53263922..53263924 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53349595)_(53410194_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV000707763] ChrX:53349595..53410194 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV000736087] ChrX:53234869 [GRCh38]
ChrX:53264051 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.326A>G (p.Gln109Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000717853] ChrX:53320798 [GRCh38]
ChrX:53349996 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.531G>C (p.Pro177=) single nucleotide variant History of neurodevelopmental disorder [RCV000718017] ChrX:53320593 [GRCh38]
ChrX:53349791 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) deletion Mental retardation, X-linked 1 [RCV000736088] ChrX:53234267 [GRCh38]
ChrX:53263449 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.777G>A (p.Ala259=) single nucleotide variant History of neurodevelopmental disorder [RCV000719214] ChrX:53256022 [GRCh38]
ChrX:53285204 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001111125.3(IQSEC2):c.3462G>C (p.Gly1154=) single nucleotide variant History of neurodevelopmental disorder [RCV000720239] ChrX:53235822 [GRCh38]
ChrX:53265004 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1704T>C (p.Arg568=) single nucleotide variant History of neurodevelopmental disorder [RCV000720569] ChrX:53250872 [GRCh38]
ChrX:53280054 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720483] ChrX:53320555 [GRCh38]
ChrX:53349753 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2323C>T (p.Leu775=) single nucleotide variant History of neurodevelopmental disorder [RCV000720817] ChrX:53248857 [GRCh38]
ChrX:53278039 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001251777] ChrX:53238216 [GRCh38]
ChrX:53267398 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
NM_001111125.3(IQSEC2):c.2582+2T>C single nucleotide variant Mental retardation, X-linked 1 [RCV000736086] ChrX:53248112 [GRCh38]
ChrX:53277294 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) deletion Autism spectrum disorder [RCV000754664] ChrX:53254702 [GRCh38]
ChrX:53283884 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001111125.3(IQSEC2):c.1009C>T (p.Leu337=) single nucleotide variant not provided [RCV000939372] ChrX:53254922 [GRCh38]
ChrX:53284104 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3717_3719CCA[8] (p.His1247dup) microsatellite not provided [RCV000941434] ChrX:53234948..53234949 [GRCh38]
ChrX:53264130..53264131 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter) single nucleotide variant not provided [RCV000760820] ChrX:53234573 [GRCh38]
ChrX:53263755 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) deletion Mental retardation, X-linked 1 [RCV000761242] ChrX:53234811 [GRCh38]
ChrX:53263993 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs) deletion Mental retardation, X-linked 1 [RCV000760185] ChrX:53255945 [GRCh38]
ChrX:53285127 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp) single nucleotide variant Mental retardation, X-linked 1 [RCV000760217] ChrX:53236495 [GRCh38]
ChrX:53265677 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.738-1G>A single nucleotide variant Mental retardation, X-linked 1 [RCV000760290] ChrX:53256062 [GRCh38]
ChrX:53285244 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter) single nucleotide variant not provided [RCV000760542] ChrX:53234830 [GRCh38]
ChrX:53264012 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3560C>T (p.Pro1187Leu) single nucleotide variant not provided [RCV000762641] ChrX:53235126 [GRCh38]
ChrX:53264308 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile) single nucleotide variant not provided [RCV000762643] ChrX:53247020 [GRCh38]
ChrX:53276202 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1566C>A (p.Asp522Glu) single nucleotide variant not provided [RCV000762644] ChrX:53251010 [GRCh38]
ChrX:53280192 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.737+10385C>G single nucleotide variant not provided [RCV000762645] ChrX:53281510 [GRCh38]
ChrX:53310692 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs) deletion Mental retardation, X-linked 1 [RCV000990828] ChrX:53250609 [GRCh38]
ChrX:53279791 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3501+7G>T single nucleotide variant Mental retardation, X-linked 1 [RCV000905958] ChrX:53235776 [GRCh38]
ChrX:53264958 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4335T>C (p.Pro1445=) single nucleotide variant not provided [RCV000884176] ChrX:53234351 [GRCh38]
ChrX:53263533 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4200A>G (p.Ala1400=) single nucleotide variant not provided [RCV000884178] ChrX:53234486 [GRCh38]
ChrX:53263668 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4155T>C (p.Pro1385=) single nucleotide variant not provided [RCV000884179] ChrX:53234531 [GRCh38]
ChrX:53263713 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3666A>G (p.Pro1222=) single nucleotide variant not provided [RCV000884180] ChrX:53235020 [GRCh38]
ChrX:53264202 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=) single nucleotide variant Mental retardation, X-linked 1 [RCV000923181] ChrX:53236353 [GRCh38]
ChrX:53265535 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=) single nucleotide variant Mental retardation, X-linked 1 [RCV000877777] ChrX:53235125 [GRCh38]
ChrX:53264307 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3546T>G (p.Pro1182=) single nucleotide variant Mental retardation, X-linked 1 [RCV000921249] ChrX:53235140 [GRCh38]
ChrX:53264322 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=) single nucleotide variant Mental retardation, X-linked 1 [RCV000937029] ChrX:53234762 [GRCh38]
ChrX:53263944 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=) single nucleotide variant Mental retardation, X-linked 1 [RCV000981404] ChrX:53243446 [GRCh38]
ChrX:53272628 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=) single nucleotide variant Mental retardation, X-linked 1 [RCV000877778] ChrX:53235131 [GRCh38]
ChrX:53264313 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=) single nucleotide variant not provided [RCV000949188] ChrX:53234267 [GRCh38]
ChrX:53263449 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.567G>C (p.Ser189=) single nucleotide variant not provided [RCV000920296] ChrX:53320557 [GRCh38]
ChrX:53349755 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV001034250] ChrX:53235163 [GRCh38]
ChrX:53264345 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001061833] ChrX:53250345 [GRCh38]
ChrX:53279527 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001059331] ChrX:53320705 [GRCh38]
ChrX:53349903 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.590G>T (p.Arg197Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001059352] ChrX:53320534 [GRCh38]
ChrX:53349732 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.808C>T (p.Arg270Trp) single nucleotide variant Mental retardation, X-linked 1 [RCV001007874] ChrX:53255991 [GRCh38]
ChrX:53285173 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.566C>T (p.Ser189Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001065239] ChrX:53320558 [GRCh38]
ChrX:53349756 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs) deletion Mental retardation, X-linked 1 [RCV001065487] ChrX:53234352..53234362 [GRCh38]
ChrX:53263534..53263544 [GRCh37]
ChrX:Xp11.22
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=) single nucleotide variant Mental retardation, X-linked 1 [RCV000941435] ChrX:53248852 [GRCh38]
ChrX:53278034 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1653C>T (p.Leu551=) single nucleotide variant not provided [RCV000981929] ChrX:53250923 [GRCh38]
ChrX:53280105 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=) single nucleotide variant not provided [RCV000940180] ChrX:53321106 [GRCh38]
ChrX:53350304 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.2181C>T (p.Thr727=) single nucleotide variant not provided [RCV000942981] ChrX:53250395 [GRCh38]
ChrX:53279577 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4233A>G (p.Pro1411=) single nucleotide variant not provided [RCV000982813] ChrX:53234453 [GRCh38]
ChrX:53263635 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2139C>T (p.Ser713=) single nucleotide variant not provided [RCV000982305] ChrX:53250437 [GRCh38]
ChrX:53279619 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1374A>G (p.Thr458=) single nucleotide variant not provided [RCV000942932] ChrX:53254557 [GRCh38]
ChrX:53283739 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4206G>C (p.Ala1402=) single nucleotide variant not provided [RCV000959492] ChrX:53234480 [GRCh38]
ChrX:53263662 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4203C>G (p.Gly1401=) single nucleotide variant not provided [RCV000959493] ChrX:53234483 [GRCh38]
ChrX:53263665 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=) single nucleotide variant Mental retardation, X-linked 1 [RCV000983434] ChrX:53321016 [GRCh38]
ChrX:53350214 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3693C>T (p.Ser1231=) single nucleotide variant not provided [RCV000978019] ChrX:53234993 [GRCh38]
ChrX:53264175 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=) single nucleotide variant not provided [RCV000827351] ChrX:53250767 [GRCh38]
ChrX:53279949 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.999+51C>T single nucleotide variant not provided [RCV000831752] ChrX:53255749 [GRCh38]
ChrX:53284931 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.737+10291G>A single nucleotide variant not provided [RCV000841982] ChrX:53281604 [GRCh38]
ChrX:53310786 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4224C>T (p.Ser1408=) single nucleotide variant not provided [RCV000959491] ChrX:53234462 [GRCh38]
ChrX:53263644 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2697C>T (p.Ser899=) single nucleotide variant not provided [RCV000936143] ChrX:53247021 [GRCh38]
ChrX:53276203 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs) duplication Mental retardation, X-linked 1 [RCV000815576] ChrX:53254852..53254853 [GRCh38]
ChrX:53284034..53284035 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.598C>G (p.Arg200Gly) single nucleotide variant not provided [RCV000836457] ChrX:53320526 [GRCh38]
ChrX:53349724 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3231C>T (p.Arg1077=) single nucleotide variant not provided [RCV000915895] ChrX:53238191 [GRCh38]
ChrX:53267373 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs) deletion Mental retardation, X-linked 1 [RCV000811123] ChrX:53320582 [GRCh38]
ChrX:53349780 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=) single nucleotide variant Mental retardation, X-linked 1 [RCV000937598] ChrX:53234369 [GRCh38]
ChrX:53263551 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.737+191G>A single nucleotide variant not provided [RCV000837088] ChrX:53291704 [GRCh38]
ChrX:53320886 [GRCh37]
ChrX:Xp11.22
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_001111125.3(IQSEC2):c.848G>C (p.Gly283Ala) single nucleotide variant Mental retardation, X-linked 1 [RCV000812196] ChrX:53255951 [GRCh38]
ChrX:53285133 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001111125.3(IQSEC2):c.4458C>T (p.Thr1486=) single nucleotide variant not provided [RCV000841570] ChrX:53234228 [GRCh38]
ChrX:53263410 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.737+12499A>G single nucleotide variant not provided [RCV000841956] ChrX:53279396 [GRCh38]
ChrX:53308578 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.708-20T>C single nucleotide variant not provided [RCV000842488] ChrX:53291944 [GRCh38]
ChrX:53321126 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3502-8G>A single nucleotide variant not provided [RCV000842574] ChrX:53235192 [GRCh38]
ChrX:53264374 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.22(chrX:53254672-53270756)x3 copy number gain not provided [RCV000849617] ChrX:53254672..53270756 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001111125.3(IQSEC2):c.708-258A>T single nucleotide variant not provided [RCV000832823] ChrX:53292182 [GRCh38]
ChrX:53321364 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3832G>A (p.Ala1278Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV000798267] ChrX:53234854 [GRCh38]
ChrX:53264036 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3164G>A (p.Arg1055Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV000799102] ChrX:53238258 [GRCh38]
ChrX:53267440 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1000-259del deletion not provided [RCV000828959] ChrX:53255190 [GRCh38]
ChrX:53284372 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs) deletion Mental retardation, X-linked 1 [RCV000990829] ChrX:53255860..53255861 [GRCh38]
ChrX:53285042..53285043 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV000819461] ChrX:53247091 [GRCh38]
ChrX:53276273 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV000791746] ChrX:53254745 [GRCh38]
ChrX:53283927 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4033C>T (p.Arg1345Trp) single nucleotide variant Mental retardation, X-linked 1 [RCV000792724] ChrX:53234653 [GRCh38]
ChrX:53263835 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) single nucleotide variant not provided [RCV000999445] ChrX:53236417 [GRCh38]
ChrX:53265599 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2995C>T (p.Leu999Phe) single nucleotide variant not provided [RCV000999447] ChrX:53241804 [GRCh38]
ChrX:53270986 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.1994C>T (p.Ala665Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001199098]|not provided [RCV000999449] ChrX:53250582 [GRCh38]
ChrX:53279764 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1688G>A (p.Arg563Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV000795977] ChrX:53250888 [GRCh38]
ChrX:53280070 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1373C>G (p.Thr458Arg) single nucleotide variant not provided [RCV001091939] ChrX:53254558 [GRCh38]
ChrX:53283740 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2781_2783CCT[1] (p.Leu929del) microsatellite Mental retardation, X-linked 1 [RCV000799410] ChrX:53243435..53243437 [GRCh38]
ChrX:53272617..53272619 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs) deletion Mental retardation, X-linked 1 [RCV000799992] ChrX:53239236 [GRCh38]
ChrX:53268418 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) single nucleotide variant Mental retardation, X-linked 1 [RCV000850562]|not provided [RCV001091935] ChrX:53236494 [GRCh38]
ChrX:53265676 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV000811012] ChrX:53251080 [GRCh38]
ChrX:53280262 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.11:g.53243480G>A single nucleotide variant not provided [RCV000840143] ChrX:53272662 [GRCh37]
ChrX:Xp11.22
likely benign
NC_000023.11:g.53248718C>T single nucleotide variant not provided [RCV000840509] ChrX:53277900 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2298-258A>G single nucleotide variant not provided [RCV000843817] ChrX:53249140 [GRCh38]
ChrX:53278322 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.2455T>C (p.Leu819=) single nucleotide variant not provided [RCV000939047] ChrX:53248725 [GRCh38]
ChrX:53277907 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=) single nucleotide variant not provided [RCV000840927] ChrX:53250314 [GRCh38]
ChrX:53279496 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=) single nucleotide variant Mental retardation, X-linked 1 [RCV000960657] ChrX:53320455 [GRCh38]
ChrX:53349653 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.2460-2A>G single nucleotide variant Mental retardation, X-linked 1 [RCV000806617] ChrX:53248238 [GRCh38]
ChrX:53277420 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3015+9A>G single nucleotide variant not provided [RCV000827630] ChrX:53241775 [GRCh38]
ChrX:53270957 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.999+11G>A single nucleotide variant not provided [RCV000842354] ChrX:53255789 [GRCh38]
ChrX:53284971 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs) duplication not provided [RCV001009168] ChrX:53234967..53234968 [GRCh38]
ChrX:53264149..53264150 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile) single nucleotide variant Mental retardation, X-linked 1 [RCV000990827] ChrX:53239282 [GRCh38]
ChrX:53268464 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter) single nucleotide variant Mental retardation, X-linked 1 [RCV001169943] ChrX:53250939 [GRCh38]
ChrX:53280121 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.737+10380dup duplication not provided [RCV001091940] ChrX:53281509..53281510 [GRCh38]
ChrX:53310691..53310692 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2983del (p.Arg995fs) deletion not provided [RCV001008402] ChrX:53241816 [GRCh38]
ChrX:53270998 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=) single nucleotide variant not provided [RCV000999446] ChrX:53238179 [GRCh38]
ChrX:53267361 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV000850383] ChrX:53234671 [GRCh38]
ChrX:53263853 [GRCh37]
ChrX:Xp11.22
pathogenic|uncertain significance
NM_001111125.3(IQSEC2):c.2894T>C (p.Leu965Pro) single nucleotide variant Mental retardation, X-linked 1 [RCV001007920] ChrX:53241905 [GRCh38]
ChrX:53271087 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln) single nucleotide variant not provided [RCV000975713] ChrX:53250918 [GRCh38]
ChrX:53280100 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.3380A>T (p.Asp1127Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001222852] ChrX:53236393 [GRCh38]
ChrX:53265575 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4252C>T (p.Pro1418Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV001210740] ChrX:53234434 [GRCh38]
ChrX:53263616 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3665C>T (p.Pro1222Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001224114] ChrX:53235021 [GRCh38]
ChrX:53264203 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.826C>A (p.Pro276Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV001002554] ChrX:53255973 [GRCh38]
ChrX:53285155 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.625_626delinsAT (p.Ala209Ile) indel Mental retardation, X-linked 1 [RCV001211078] ChrX:53320498..53320499 [GRCh38]
ChrX:53349696..53349697 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2342T>C (p.Leu781Pro) single nucleotide variant Mental retardation, X-linked 1 [RCV001220106] ChrX:53248838 [GRCh38]
ChrX:53278020 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3959G>A (p.Arg1320His) single nucleotide variant Mental retardation, X-linked 1 [RCV001241640] ChrX:53234727 [GRCh38]
ChrX:53263909 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2525C>G (p.Ser842Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV001207832] ChrX:53248171 [GRCh38]
ChrX:53277353 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV001247681] ChrX:53241891 [GRCh38]
ChrX:53271073 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2297+5G>C single nucleotide variant not provided [RCV000999448] ChrX:53250274 [GRCh38]
ChrX:53279456 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.2582+1del deletion Mental retardation, X-linked 1 [RCV001237969] ChrX:53248113 [GRCh38]
ChrX:53277295 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV001198118] ChrX:53238193 [GRCh38]
ChrX:53267375 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs) duplication not provided [RCV001008283] ChrX:53234430..53234431 [GRCh38]
ChrX:53263612..53263613 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.3326C>T (p.Pro1109Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001225494] ChrX:53236447 [GRCh38]
ChrX:53265629 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1286G>A (p.Gly429Glu) single nucleotide variant Mental retardation, X-linked 1 [RCV001227895] ChrX:53254645 [GRCh38]
ChrX:53283827 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3714G>A (p.Thr1238=) single nucleotide variant not provided [RCV000927261] ChrX:53234972 [GRCh38]
ChrX:53264154 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=) single nucleotide variant Mental retardation, X-linked 1 [RCV000955090] ChrX:53250920 [GRCh38]
ChrX:53280102 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.3075C>T (p.Phe1025=) single nucleotide variant not provided [RCV000930363] ChrX:53239235 [GRCh38]
ChrX:53268417 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.3072T>C (p.Ser1024=) single nucleotide variant not provided [RCV000930380] ChrX:53239238 [GRCh38]
ChrX:53268420 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2853G>A (p.Val951=) single nucleotide variant not provided [RCV000929962] ChrX:53243368 [GRCh38]
ChrX:53272550 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His) single nucleotide variant Mental retardation, X-linked 1 [RCV000896726] ChrX:53247100 [GRCh38]
ChrX:53276282 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn) single nucleotide variant Intellectual disability [RCV000984810] ChrX:53247038 [GRCh38]
ChrX:53276220 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2750-7C>T single nucleotide variant not provided [RCV000939684] ChrX:53243478 [GRCh38]
ChrX:53272660 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.4332C>A (p.Ser1444=) single nucleotide variant not provided [RCV000884177] ChrX:53234354 [GRCh38]
ChrX:53263536 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.1402-15dup duplication Mental retardation, X-linked 1 [RCV000952550] ChrX:53251182..53251183 [GRCh38]
ChrX:53280364..53280365 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=) single nucleotide variant Mental retardation, X-linked 1 [RCV000937272] ChrX:53234567 [GRCh38]
ChrX:53263749 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=) single nucleotide variant Mental retardation, X-linked 1 [RCV000952575] ChrX:53243389 [GRCh38]
ChrX:53272571 [GRCh37]
ChrX:Xp11.22
benign
NM_001111125.3(IQSEC2):c.2749+2T>C single nucleotide variant not provided [RCV000992182] ChrX:53246967 [GRCh38]
ChrX:53276149 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) single nucleotide variant Mental retardation, X-linked 1 [RCV001199082] ChrX:53247048 [GRCh38]
ChrX:53276230 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs) deletion Mental retardation, X-linked 1 [RCV001054863] ChrX:53250550 [GRCh38]
ChrX:53279732 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=) single nucleotide variant Mental retardation, X-linked 1 [RCV001055329] ChrX:53248182 [GRCh38]
ChrX:53277364 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001063266] ChrX:53234636 [GRCh38]
ChrX:53263818 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53276131)_(53449569_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001032472] ChrX:53276131..53449569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3386A>T (p.Tyr1129Phe) single nucleotide variant Seizures [RCV001263280] ChrX:53236387 [GRCh38]
ChrX:53265569 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs) duplication not provided [RCV001009232] ChrX:53247072..53247073 [GRCh38]
ChrX:53276254..53276255 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter) duplication not provided [RCV001008036] ChrX:53255992..53255993 [GRCh38]
ChrX:53285174..53285175 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.886del (p.Ala296fs) deletion not provided [RCV001008437] ChrX:53255913 [GRCh38]
ChrX:53285095 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn) single nucleotide variant Mental retardation, X-linked 1 [RCV001034059] ChrX:53250558 [GRCh38]
ChrX:53279740 [GRCh37]
ChrX:Xp11.22
likely benign
NM_001111125.3(IQSEC2):c.355C>G (p.Arg119Gly) single nucleotide variant Mental retardation, X-linked 1 [RCV001040925] ChrX:53320769 [GRCh38]
ChrX:53349967 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.659G>T (p.Gly220Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001041535] ChrX:53320465 [GRCh38]
ChrX:53349663 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV001296284]|not provided [RCV001091936] ChrX:53238193 [GRCh38]
ChrX:53267375 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) deletion Mental retardation, X-linked 1 [RCV001224338]|not provided [RCV001172010] ChrX:53250989..53250990 [GRCh38]
ChrX:53280171..53280172 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.454C>G (p.Arg152Gly) single nucleotide variant Mental retardation, X-linked 1 [RCV001047022] ChrX:53320670 [GRCh38]
ChrX:53349868 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly) single nucleotide variant Mental retardation, X-linked 1 [RCV001206261] ChrX:53238229 [GRCh38]
ChrX:53267411 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.730A>G (p.Thr244Ala) single nucleotide variant Mental retardation, X-linked 1 [RCV001223858] ChrX:53291902 [GRCh38]
ChrX:53321084 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_001111125.3(IQSEC2):c.3307C>T (p.Arg1103Trp) single nucleotide variant Mental retardation, X-linked 1 [RCV001044514] ChrX:53236466 [GRCh38]
ChrX:53265648 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3563C>T (p.Pro1188Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001235300] ChrX:53235123 [GRCh38]
ChrX:53264305 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1274G>A (p.Arg425Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001244373] ChrX:53254657 [GRCh38]
ChrX:53283839 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs) deletion Mental retardation, X-linked 1 [RCV001196313] ChrX:53255843 [GRCh38]
ChrX:53285025 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV001060894] ChrX:53255889 [GRCh38]
ChrX:53285071 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs) deletion not provided [RCV001091937] ChrX:53250695..53250696 [GRCh38]
ChrX:53279877..53279878 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3223G>A (p.Asp1075Asn) single nucleotide variant Mental retardation, X-linked 1 [RCV001066063] ChrX:53238199 [GRCh38]
ChrX:53267381 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2707G>C (p.Glu903Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001248378] ChrX:53247011 [GRCh38]
ChrX:53276193 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) single nucleotide variant Intellectual disability [RCV001260743]|Mental retardation, X-linked 1 [RCV001204697] ChrX:53247008 [GRCh38]
ChrX:53276190 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs) deletion Mental retardation, X-linked 1 [RCV001222577] ChrX:53254883 [GRCh38]
ChrX:53284065 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001037543] ChrX:53250822 [GRCh38]
ChrX:53280004 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1391_1393del (p.Phe464del) deletion Mental retardation, X-linked 1 [RCV001222126] ChrX:53254538..53254540 [GRCh38]
ChrX:53283720..53283722 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3362C>T (p.Ala1121Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001222575] ChrX:53236411 [GRCh38]
ChrX:53265593 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.446C>T (p.Ala149Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001050795] ChrX:53320678 [GRCh38]
ChrX:53349876 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4073G>A (p.Arg1358His) single nucleotide variant Mental retardation, X-linked 1 [RCV001205965] ChrX:53234613 [GRCh38]
ChrX:53263795 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs) deletion Mental retardation, X-linked 1 [RCV001241371] ChrX:53250763 [GRCh38]
ChrX:53279945 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His) single nucleotide variant Mental retardation, X-linked 1 [RCV001057315] ChrX:53251091 [GRCh38]
ChrX:53280273 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met) single nucleotide variant Mental retardation, X-linked 1 [RCV001060738] ChrX:53320664 [GRCh38]
ChrX:53349862 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1886A>G (p.His629Arg) single nucleotide variant Mental retardation, X-linked 1 [RCV001207591] ChrX:53250690 [GRCh38]
ChrX:53279872 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.620G>A (p.Arg207His) single nucleotide variant Mental retardation, X-linked 1 [RCV001217664] ChrX:53320504 [GRCh38]
ChrX:53349702 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs) insertion Mental retardation, X-linked 1 [RCV001065366] ChrX:53251058..53251059 [GRCh38]
ChrX:53280240..53280241 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV001070244] ChrX:53236412 [GRCh38]
ChrX:53265594 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) deletion Mental retardation, X-linked 1 [RCV001264727] ChrX:53234594 [GRCh38]
ChrX:53263776 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001111125.3(IQSEC2):c.1042C>T (p.Arg348Cys) single nucleotide variant Mental retardation, X-linked 1 [RCV001252988] ChrX:53254889 [GRCh38]
ChrX:53284071 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs) duplication Mental retardation, X-linked 1 [RCV001253475] ChrX:53239241..53239242 [GRCh38]
ChrX:53268423..53268424 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs) deletion Mental retardation, X-linked 1 [RCV001258352] ChrX:53250727 [GRCh38]
ChrX:53279909 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV001262289] ChrX:53248177 [GRCh38]
ChrX:53277359 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs) duplication Mental retardation, X-linked 1 [RCV001251778] ChrX:53234266..53234267 [GRCh38]
ChrX:53263448..53263449 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.4250A>C (p.His1417Pro) single nucleotide variant Microcephaly [RCV001252714] ChrX:53234436 [GRCh38]
ChrX:53263618 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2513G>A (p.Arg838Gln) single nucleotide variant Inborn genetic diseases [RCV001267012] ChrX:53248183 [GRCh38]
ChrX:53277365 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp11.22(chrX:53188785-53934760)x2 copy number gain not provided [RCV001258794] ChrX:53188785..53934760 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1405_1406del (p.Lys469fs) deletion Intellectual disability [RCV001260740] ChrX:53251170..53251171 [GRCh38]
ChrX:53280352..53280353 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.578G>T (p.Gly193Val) single nucleotide variant Intellectual disability [RCV001260741] ChrX:53320546 [GRCh38]
ChrX:53349744 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs) deletion not provided [RCV001268368] ChrX:53251066 [GRCh38]
ChrX:53280248 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.1399C>T (p.Gln467Ter) single nucleotide variant not provided [RCV001268889] ChrX:53254532 [GRCh38]
ChrX:53283714 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) duplication Inborn genetic diseases [RCV001265973] ChrX:53255950..53255951 [GRCh38]
ChrX:53285132..53285133 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.2819_2823dup (p.Arg942fs) duplication Mental retardation, X-linked 1 [RCV001290205] ChrX:53243397..53243398 [GRCh38]
ChrX:53272579..53272580 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53188785-54049698)x3 copy number gain not provided [RCV001258795] ChrX:53188785..54049698 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_001111125.3(IQSEC2):c.158A>G (p.Gln53Arg) single nucleotide variant Mental retardation, X-linked 1 [RCV001301308] ChrX:53320966 [GRCh38]
ChrX:53350164 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly) single nucleotide variant Mental retardation, X-linked 1 [RCV001327152] ChrX:53321050 [GRCh38]
ChrX:53350248 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr) single nucleotide variant Mental retardation, X-linked 1 [RCV001315102] ChrX:53234557 [GRCh38]
ChrX:53263739 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4051C>T (p.Pro1351Ser) single nucleotide variant Mental retardation, X-linked 1 [RCV001306506] ChrX:53234635 [GRCh38]
ChrX:53263817 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.340G>A (p.Val114Met) single nucleotide variant Mental retardation, X-linked 1 [RCV001332838] ChrX:53320784 [GRCh38]
ChrX:53349982 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3038A>G (p.Lys1013Arg) single nucleotide variant Mental retardation, X-linked 1 [RCV001343652] ChrX:53239272 [GRCh38]
ChrX:53268454 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001334781] ChrX:53250831 [GRCh38]
ChrX:53280013 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3188C>T (p.Ala1063Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001313708] ChrX:53238234 [GRCh38]
ChrX:53267416 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3269G>A (p.Arg1090His) single nucleotide variant Mental retardation, X-linked 1 [RCV001351897] ChrX:53238153 [GRCh38]
ChrX:53267335 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1171C>A (p.Gln391Lys) single nucleotide variant Mental retardation, X-linked 1 [RCV001297052] ChrX:53254760 [GRCh38]
ChrX:53283942 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1469A>G (p.Glu490Gly) single nucleotide variant Mental retardation, X-linked 1 [RCV001352199] ChrX:53251107 [GRCh38]
ChrX:53280289 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3935C>T (p.Ser1312Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001316418] ChrX:53234751 [GRCh38]
ChrX:53263933 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001332837] ChrX:53243352 [GRCh38]
ChrX:53272534 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1168A>C (p.Met390Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001349932] ChrX:53254763 [GRCh38]
ChrX:53283945 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.4120G>A (p.Ala1374Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV001304443] ChrX:53234566 [GRCh38]
ChrX:53263748 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1265G>A (p.Arg422Gln) single nucleotide variant Mental retardation, X-linked 1 [RCV001317614] ChrX:53254666 [GRCh38]
ChrX:53283848 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3502-3C>T single nucleotide variant Mental retardation, X-linked 1 [RCV001297831] ChrX:53235187 [GRCh38]
ChrX:53264369 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3316G>A (p.Ala1106Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV001325724] ChrX:53236457 [GRCh38]
ChrX:53265639 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) single nucleotide variant Mental retardation, X-linked 1 [RCV001347361] ChrX:53235821 [GRCh38]
ChrX:53265003 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.2867G>A (p.Arg956His) single nucleotide variant Mental retardation, X-linked 1 [RCV001346262] ChrX:53243354 [GRCh38]
ChrX:53272536 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1008G>T (p.Met336Ile) single nucleotide variant Mental retardation, X-linked 1 [RCV001298413] ChrX:53254923 [GRCh38]
ChrX:53284105 [GRCh37]
ChrX:Xp11.22
uncertain significance
NC_000023.10:g.(?_53349605)_(53410184_?)dup duplication Congenital muscular hypertrophy-cerebral syndrome [RCV001323425] ChrX:53349605..53410184 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.3923C>T (p.Pro1308Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001304469] ChrX:53234763 [GRCh38]
ChrX:53263945 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1115G>C (p.Ser372Thr) single nucleotide variant Mental retardation, X-linked 1 [RCV001323764] ChrX:53254816 [GRCh38]
ChrX:53283998 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1402-3C>G single nucleotide variant Mental retardation, X-linked 1 [RCV001324758] ChrX:53251177 [GRCh38]
ChrX:53280359 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val) single nucleotide variant Mental retardation, X-linked 1 [RCV001314810] ChrX:53320628 [GRCh38]
ChrX:53349826 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1474G>A (p.Gly492Arg) single nucleotide variant Mental retardation, X-linked 1 [RCV001337763] ChrX:53251102 [GRCh38]
ChrX:53280284 [GRCh37]
ChrX:Xp11.22
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_001111125.3(IQSEC2):c.487_531del (p.Asn163_Pro177del) deletion Mental retardation, X-linked 1 [RCV001306093] ChrX:53320593..53320637 [GRCh38]
ChrX:53349791..53349835 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001111125.3(IQSEC2):c.1676C>T (p.Pro559Leu) single nucleotide variant Mental retardation, X-linked 1 [RCV001305985] ChrX:53250900 [GRCh38]
ChrX:53280082 [GRCh37]
ChrX:Xp11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29059 AgrOrtholog
COSMIC IQSEC2 COSMIC
Ensembl Genes ENSG00000124313 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000364514 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491293 UniProtKB/TrEMBL
  ENSP00000491470 UniProtKB/TrEMBL
  ENSP00000491540 UniProtKB/TrEMBL
  ENSP00000491736 UniProtKB/TrEMBL
  ENSP00000491796 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491820 UniProtKB/TrEMBL
  ENSP00000491892 UniProtKB/TrEMBL
  ENSP00000491996 UniProtKB/TrEMBL
  ENSP00000492252 UniProtKB/TrEMBL
  ENSP00000492390 UniProtKB/TrEMBL
  ENSP00000492403 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492636 UniProtKB/TrEMBL
  ENSP00000495726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501927 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502054 UniProtKB/Swiss-Prot
  ENSP00000502165 UniProtKB/TrEMBL
Ensembl Transcript ENST00000375365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000485377 UniProtKB/TrEMBL
  ENST00000498281 UniProtKB/TrEMBL
  ENST00000638521 UniProtKB/TrEMBL
  ENST00000638583 UniProtKB/TrEMBL
  ENST00000638630 UniProtKB/TrEMBL
  ENST00000638869 UniProtKB/TrEMBL
  ENST00000639161 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000639485 UniProtKB/TrEMBL
  ENST00000639642 UniProtKB/TrEMBL
  ENST00000639796 UniProtKB/TrEMBL
  ENST00000640005 UniProtKB/TrEMBL
  ENST00000640694 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000642864 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674510 UniProtKB/Swiss-Prot
  ENST00000675719 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000675731 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1000.11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124313 GTEx
HGNC ID HGNC:29059 ENTREZGENE
Human Proteome Map IQSEC2 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQSEC_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23096 UniProtKB/Swiss-Prot
NCBI Gene 23096 ENTREZGENE
OMIM 300522 OMIM
  309530 OMIM
Pfam IQ_SEC7_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134870898 PharmGKB
PROSITE PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEC7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Sec7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48425 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PPD3_HUMAN UniProtKB/TrEMBL
  A0A1W2PPE7_HUMAN UniProtKB/TrEMBL
  A0A1W2PPR2_HUMAN UniProtKB/TrEMBL
  A0A1W2PPU7_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ34_HUMAN UniProtKB/TrEMBL
  A0A1W2PQN3 ENTREZGENE
  A0A1W2PQP8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQS2_HUMAN UniProtKB/TrEMBL
  A0A1W2PR10_HUMAN UniProtKB/TrEMBL
  A0A1W2PR18_HUMAN UniProtKB/TrEMBL
  A0A1W2PR28_HUMAN UniProtKB/TrEMBL
  A0A1W2PRJ5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFR7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG99_HUMAN UniProtKB/TrEMBL
  IQEC2_HUMAN UniProtKB/Swiss-Prot
  L8E757_HUMAN UniProtKB/TrEMBL
  Q5JU85 ENTREZGENE
UniProt Secondary A0A1W2PQN3 UniProtKB/Swiss-Prot
  B3KT97 UniProtKB/Swiss-Prot
  C7SDG1 UniProtKB/Swiss-Prot
  O60275 UniProtKB/Swiss-Prot
  Q5JUX1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 IQSEC2  IQ motif and Sec7 domain ArfGEF 2  IQSEC2  IQ motif and Sec7 domain 2  Symbol and/or name change 5135510 APPROVED
2016-11-15 IQSEC2  IQ motif and Sec7 domain 2  MRX78  mental retardation, X-linked 78  Data Merged 737654 PROVISIONAL
2016-02-24 IQSEC2  IQ motif and Sec7 domain 2  MRX1  mental retardation, X-linked 1 (non-dysmorphic)  Data Merged 737654 PROVISIONAL