CNKSR2 (connector enhancer of kinase suppressor of Ras 2) - Rat Genome Database

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Gene: CNKSR2 (connector enhancer of kinase suppressor of Ras 2) Homo sapiens
Analyze
Symbol: CNKSR2
Name: connector enhancer of kinase suppressor of Ras 2
RGD ID: 1350323
HGNC Page HGNC
Description: Exhibits protein kinase binding activity. Involved in intracellular signal transduction. Localizes to plasma membrane. Implicated in syndromic X-linked mental retardation Hough type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CNK homolog protein 2; CNK2; connector enhancer of KSR 2; connector enhancer of KSR2; KIAA0902; KSR2; MAGUIN; membrane-associated guanylate kinase-interacting protein; MRXSHG
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 EnsemblX21,372,801 - 21,654,695 (+)EnsemblGRCh38hg38GRCh38
GRCh38X21,374,418 - 21,654,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X21,392,536 - 21,672,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,302,901 - 21,580,700 (+)NCBINCBI36hg18NCBI36
Build 34X21,152,636 - 21,430,436NCBI
CeleraX25,513,670 - 25,793,712 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX19,116,680 - 19,415,186 (+)NCBIHuRef
CHM1_1X21,422,963 - 21,703,230 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad nasal tip  (IAGP)
Cerebral atrophy  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Decreased fetal movement  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dyskinesia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Limb hypertonia  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Meckel diverticulum  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic atrophy  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
Urinary incontinence  (IAGP)
Variable expressivity  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked inheritance  (IAGP)
References

Additional References at PubMed
PMID:7757816   PMID:8889548   PMID:10048485   PMID:10207009   PMID:12390249   PMID:12477932   PMID:14597674   PMID:14702039   PMID:15028221   PMID:15342556   PMID:15489334   PMID:15772651  
PMID:16344560   PMID:16637659   PMID:17043677   PMID:17353931   PMID:18029348   PMID:18287031   PMID:18790760   PMID:19056867   PMID:19260141   PMID:19563921   PMID:19615732   PMID:22511892  
PMID:24184104   PMID:24656827   PMID:25056061   PMID:25223753   PMID:25754917   PMID:29534682   PMID:30021884   PMID:32197126   PMID:32203420   PMID:32245427  


Genomics

Comparative Map Data
CNKSR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX21,372,801 - 21,654,695 (+)EnsemblGRCh38hg38GRCh38
GRCh38X21,374,418 - 21,654,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X21,392,536 - 21,672,807 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,302,901 - 21,580,700 (+)NCBINCBI36hg18NCBI36
Build 34X21,152,636 - 21,430,436NCBI
CeleraX25,513,670 - 25,793,712 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX19,116,680 - 19,415,186 (+)NCBIHuRef
CHM1_1X21,422,963 - 21,703,230 (+)NCBICHM1_1
Cnksr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X156,604,426 - 156,827,454 (-)NCBIGRCm39mm39
GRCm39 EnsemblX156,604,432 - 156,826,290 (-)Ensembl
GRCm38X157,821,430 - 158,044,458 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX157,821,436 - 158,043,294 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X154,259,505 - 154,481,042 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X153,165,678 - 153,387,215 (-)NCBImm8
CeleraX141,071,875 - 141,293,833 (-)NCBICelera
Cytogenetic MapXF4NCBI
Cnksr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X36,908,135 - 37,148,337 (+)NCBI
Rnor_6.0 EnsemblX39,711,201 - 39,951,847 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X39,711,001 - 39,953,860 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X40,021,056 - 40,261,531 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X58,198,352 - 58,440,335 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X58,251,535 - 58,484,403 (+)NCBI
CeleraX37,542,061 - 37,781,985 (+)NCBICelera
Cytogenetic MapXq21NCBI
Cnksr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555091,758,803 - 1,985,511 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555091,758,803 - 1,977,776 (+)NCBIChiLan1.0ChiLan1.0
CNKSR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X21,360,089 - 21,640,819 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX21,360,095 - 21,640,819 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X14,004,393 - 14,285,027 (+)NCBIMhudiblu_PPA_v0panPan3
CNKSR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X17,187,742 - 17,464,526 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX17,187,742 - 17,463,102 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X17,146,603 - 17,424,099 (+)NCBI
UMICH_Zoey_3.1X17,181,511 - 17,458,370 (+)NCBI
UNSW_CanFamBas_1.0X17,203,159 - 17,480,091 (+)NCBI
UU_Cfam_GSD_1.0X17,263,244 - 17,539,996 (+)NCBI
Cnksr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X10,168,415 - 10,430,695 (+)NCBI
SpeTri2.0NW_0049366242,727,208 - 2,989,653 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNKSR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX17,561,259 - 17,838,497 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X17,561,114 - 17,838,034 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X18,898,868 - 19,131,561 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNKSR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X19,837,495 - 20,119,396 (+)NCBI
ChlSab1.1 EnsemblX19,891,949 - 20,117,574 (+)Ensembl
Vero_WHO_p1.0NW_02366605621,694,514 - 21,984,321 (+)NCBI
Cnksr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248296,286,716 - 6,556,757 (+)NCBI

Position Markers
RH15676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,660,771 - 21,660,959UniSTSGRCh37
Build 36X21,570,692 - 21,570,880RGDNCBI36
CeleraX25,781,668 - 25,781,856RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,403,433 - 19,403,621UniSTS
RH123085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,670,629 - 21,670,915UniSTSGRCh37
Build 36X21,580,550 - 21,580,836RGDNCBI36
CeleraX25,791,527 - 25,791,813RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,413,000 - 19,413,286UniSTS
TNG Radiation Hybrid MapX7244.0UniSTS
UniSTS:224320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,659,670 - 21,659,830UniSTSGRCh37
Build 36X21,569,591 - 21,569,751RGDNCBI36
CeleraX25,780,567 - 25,780,727RGD
HuRefX19,402,332 - 19,402,492UniSTS
20C20_SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,389,804 - 21,389,956UniSTSGRCh37
Build 36X21,299,725 - 21,299,877RGDNCBI36
CeleraX25,510,936 - 25,511,088RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,132,190 - 19,132,342UniSTS
264P13_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,495,234 - 21,495,430UniSTSGRCh37
Build 36X21,405,155 - 21,405,351RGDNCBI36
CeleraX25,616,258 - 25,616,454RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,237,949 - 19,238,145UniSTS
360G13_SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,632,173 - 21,632,322UniSTSGRCh37
Build 36X21,542,094 - 21,542,243RGDNCBI36
CeleraX25,753,031 - 25,753,180RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,374,256 - 19,374,405UniSTS
RH45991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,531,947 - 21,532,097UniSTSGRCh37
Build 36X21,441,868 - 21,442,018RGDNCBI36
CeleraX25,652,809 - 25,652,959RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,274,519 - 19,274,669UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
RH46327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,672,561 - 21,672,688UniSTSGRCh37
Build 36X21,582,482 - 21,582,609RGDNCBI36
CeleraX25,793,460 - 25,793,587RGD
Cytogenetic MapXp22.12UniSTS
HuRefX19,414,934 - 19,415,061UniSTS
GeneMap99-GB4 RH MapX95.47UniSTS
NCBI RH MapX10.0UniSTS
CNKSR2_4601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,670,449 - 21,670,977UniSTSGRCh37
Build 36X21,580,370 - 21,580,898RGDNCBI36
CeleraX25,791,347 - 25,791,875RGD
HuRefX19,412,820 - 19,413,348UniSTS
CNK2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X21,450,820 - 21,450,926UniSTSGRCh37
CeleraX25,571,844 - 25,571,950UniSTS
HuRefX19,193,358 - 19,193,464UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4428
Count of miRNA genes:1132
Interacting mature miRNAs:1404
Transcripts:ENST00000279451, ENST00000379510, ENST00000425654, ENST00000479158, ENST00000480138, ENST00000485012, ENST00000543067
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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 42 6 4 30 4 203 47 1714 2 13 47 105
Low 1808 1622 1312 264 800 178 3646 1677 1957 58 1095 1388 88 1 1110 2421 1
Below cutoff 452 1355 375 336 1005 260 498 456 37 193 280 111 77 94 262 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF418269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF418270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI817268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL928874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM692904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP200041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA067208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA123093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F09543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T65396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z40257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000279451   ⟹   ENSP00000279451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,456 - 21,642,732 (+)Ensembl
RefSeq Acc Id: ENST00000379510   ⟹   ENSP00000368824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,418 - 21,654,689 (+)Ensembl
RefSeq Acc Id: ENST00000425654   ⟹   ENSP00000397906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,418 - 21,654,695 (+)Ensembl
RefSeq Acc Id: ENST00000479158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,426,580 - 21,531,968 (+)Ensembl
RefSeq Acc Id: ENST00000480138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,426,612 - 21,470,878 (+)Ensembl
RefSeq Acc Id: ENST00000485012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,800 - 21,591,485 (+)Ensembl
RefSeq Acc Id: ENST00000543067   ⟹   ENSP00000444633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,421 - 21,642,730 (+)Ensembl
RefSeq Acc Id: ENST00000642359   ⟹   ENSP00000496709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,298 - 21,643,600 (+)Ensembl
RefSeq Acc Id: ENST00000642460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,753 - 21,532,195 (+)Ensembl
RefSeq Acc Id: ENST00000642501   ⟹   ENSP00000495189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,372,801 - 21,645,440 (+)Ensembl
RefSeq Acc Id: ENST00000642565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,729 - 21,495,691 (+)Ensembl
RefSeq Acc Id: ENST00000642853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,537,868 - 21,654,108 (+)Ensembl
RefSeq Acc Id: ENST00000643156   ⟹   ENSP00000494962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,531,859 - 21,654,258 (+)Ensembl
RefSeq Acc Id: ENST00000643171   ⟹   ENSP00000496186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,448 - 21,609,568 (+)Ensembl
RefSeq Acc Id: ENST00000643220   ⟹   ENSP00000495012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,794 - 21,642,657 (+)Ensembl
RefSeq Acc Id: ENST00000643309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,769 - 21,429,776 (+)Ensembl
RefSeq Acc Id: ENST00000643313   ⟹   ENSP00000494115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,440,730 - 21,641,628 (+)Ensembl
RefSeq Acc Id: ENST00000643484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,643,396 - 21,652,890 (+)Ensembl
RefSeq Acc Id: ENST00000643841   ⟹   ENSP00000494416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,357 - 21,506,742 (+)Ensembl
RefSeq Acc Id: ENST00000644075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,470,734 - 21,652,822 (+)Ensembl
RefSeq Acc Id: ENST00000644095   ⟹   ENSP00000496088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,743 - 21,642,799 (+)Ensembl
RefSeq Acc Id: ENST00000644295   ⟹   ENSP00000495501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,608 - 21,654,245 (+)Ensembl
RefSeq Acc Id: ENST00000644585   ⟹   ENSP00000495954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,511 - 21,654,550 (+)Ensembl
RefSeq Acc Id: ENST00000644789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,423,295 - 21,532,004 (+)Ensembl
RefSeq Acc Id: ENST00000644798   ⟹   ENSP00000494983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,421 - 21,506,814 (+)Ensembl
RefSeq Acc Id: ENST00000644832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,422 - 21,493,229 (+)Ensembl
RefSeq Acc Id: ENST00000645038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,384 - 21,594,454 (+)Ensembl
RefSeq Acc Id: ENST00000645074   ⟹   ENSP00000496573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,610 - 21,642,657 (+)Ensembl
RefSeq Acc Id: ENST00000645238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,645,379 - 21,654,243 (+)Ensembl
RefSeq Acc Id: ENST00000645245   ⟹   ENSP00000495695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,468 - 21,654,263 (+)Ensembl
RefSeq Acc Id: ENST00000645539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,595,223 - 21,652,744 (+)Ensembl
RefSeq Acc Id: ENST00000645679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,421 - 21,426,583 (+)Ensembl
RefSeq Acc Id: ENST00000645791   ⟹   ENSP00000494906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,671 - 21,645,440 (+)Ensembl
RefSeq Acc Id: ENST00000646175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,468 - 21,441,405 (+)Ensembl
RefSeq Acc Id: ENST00000646690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,606,531 - 21,654,257 (+)Ensembl
RefSeq Acc Id: ENST00000646697   ⟹   ENSP00000495325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,426,497 - 21,643,600 (+)Ensembl
RefSeq Acc Id: ENST00000647058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,594,871 - 21,642,357 (+)Ensembl
RefSeq Acc Id: ENST00000647349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,501,475 - 21,609,569 (+)Ensembl
RefSeq Acc Id: ENST00000647423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,833 - 21,591,467 (+)Ensembl
RefSeq Acc Id: ENST00000647532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX21,374,828 - 21,654,030 (+)Ensembl
RefSeq Acc Id: NM_001168647   ⟹   NP_001162118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,654,689 (+)NCBI
GRCh37X21,392,532 - 21,672,813 (+)NCBI
HuRefX19,116,680 - 19,415,186 (+)ENTREZGENE
CHM1_1X21,422,963 - 21,703,230 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168648   ⟹   NP_001162119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,645,440 (+)NCBI
GRCh37X21,392,532 - 21,672,813 (+)NCBI
HuRefX19,116,680 - 19,415,186 (+)ENTREZGENE
CHM1_1X21,422,963 - 21,691,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168649   ⟹   NP_001162120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,645,440 (+)NCBI
GRCh37X21,392,532 - 21,672,813 (+)NCBI
HuRefX19,116,680 - 19,415,186 (+)ENTREZGENE
CHM1_1X21,422,963 - 21,691,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330770   ⟹   NP_001317699
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,654,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330771   ⟹   NP_001317700
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,645,440 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330772   ⟹   NP_001317701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,654,689 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330773   ⟹   NP_001317702
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,645,440 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014927   ⟹   NP_055742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,654,689 (+)NCBI
GRCh37X21,392,532 - 21,672,813 (+)NCBI
Build 36X21,302,901 - 21,580,700 (+)NCBI Archive
HuRefX19,116,680 - 19,415,186 (+)ENTREZGENE
CHM1_1X21,422,963 - 21,703,230 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545471   ⟹   XP_011543773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,613,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545472   ⟹   XP_011543774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,613,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029358   ⟹   XP_016884847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,418 - 21,613,963 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055742   ⟸   NM_014927
- Peptide Label: isoform 1
- UniProtKB: Q8WXI2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162118   ⟸   NM_001168647
- Peptide Label: isoform 2
- UniProtKB: Q8WXI2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162119   ⟸   NM_001168648
- Peptide Label: isoform 3
- UniProtKB: Q8WXI2 (UniProtKB/Swiss-Prot),   B3KPN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001162120   ⟸   NM_001168649
- Peptide Label: isoform 4
- UniProtKB: Q8WXI2 (UniProtKB/Swiss-Prot),   B3KPN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543773   ⟸   XM_011545471
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543774   ⟸   XM_011545472
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884847   ⟸   XM_017029358
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001317699   ⟸   NM_001330770
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001317701   ⟸   NM_001330772
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001317702   ⟸   NM_001330773
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001317700   ⟸   NM_001330771
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: ENSP00000444633   ⟸   ENST00000543067
RefSeq Acc Id: ENSP00000397906   ⟸   ENST00000425654
RefSeq Acc Id: ENSP00000368824   ⟸   ENST00000379510
RefSeq Acc Id: ENSP00000496709   ⟸   ENST00000642359
RefSeq Acc Id: ENSP00000495189   ⟸   ENST00000642501
RefSeq Acc Id: ENSP00000494115   ⟸   ENST00000643313
RefSeq Acc Id: ENSP00000495012   ⟸   ENST00000643220
RefSeq Acc Id: ENSP00000494962   ⟸   ENST00000643156
RefSeq Acc Id: ENSP00000496186   ⟸   ENST00000643171
RefSeq Acc Id: ENSP00000494416   ⟸   ENST00000643841
RefSeq Acc Id: ENSP00000495954   ⟸   ENST00000644585
RefSeq Acc Id: ENSP00000494983   ⟸   ENST00000644798
RefSeq Acc Id: ENSP00000495501   ⟸   ENST00000644295
RefSeq Acc Id: ENSP00000496088   ⟸   ENST00000644095
RefSeq Acc Id: ENSP00000494906   ⟸   ENST00000645791
RefSeq Acc Id: ENSP00000496573   ⟸   ENST00000645074
RefSeq Acc Id: ENSP00000495695   ⟸   ENST00000645245
RefSeq Acc Id: ENSP00000495325   ⟸   ENST00000646697
RefSeq Acc Id: ENSP00000279451   ⟸   ENST00000279451
Protein Domains
CRIC   DUF1170   PDZ   PH   SAM

Promoters
RGD ID:6808580
Promoter ID:HG_KWN:66219
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:NM_001168647,   NM_001168648,   NM_001168649,   OTTHUMT00000056019
Position:
Human AssemblyChrPosition (strand)Source
Build 36X21,301,966 - 21,302,767 (+)MPROMDB
RGD ID:13604904
Promoter ID:EPDNEW_H28636
Type:initiation region
Name:CNKSR2_1
Description:connector enhancer of kinase suppressor of Ras 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28637  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,456 - 21,374,516EPDNEW
RGD ID:13604906
Promoter ID:EPDNEW_H28637
Type:initiation region
Name:CNKSR2_2
Description:connector enhancer of kinase suppressor of Ras 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28636  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X21,374,593 - 21,374,653EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV000516164] ChrX:21606868 [GRCh38]
ChrX:21624986 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_014927.3(CNKSR2):c.682-3148A>T single nucleotide variant Lung cancer [RCV000102470] ChrX:21494639 [GRCh38]
ChrX:21512757 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=) single nucleotide variant not provided [RCV000081682] ChrX:21609124 [GRCh38]
ChrX:21627242 [GRCh37]
ChrX:Xp22.12
conflicting interpretations of pathogenicity|uncertain significance
NM_014927.5(CNKSR2):c.651A>G (p.Gln217=) single nucleotide variant not specified [RCV000081683] ChrX:21490548 [GRCh38]
ChrX:21508666 [GRCh37]
ChrX:Xp22.12
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001291713] ChrX:21590578 [GRCh38]
ChrX:21608696 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) duplication Intellectual disability, X-linked, syndromic, Houge type [RCV000144938] ChrX:21440714..21440715 [GRCh38]
ChrX:21458832..21458833 [GRCh37]
ChrX:Xp22.12
pathogenic|uncertain significance|not provided
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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.12(chrX:21356600-21624363)x0 copy number loss See cases [RCV000138706] ChrX:21356600..21624363 [GRCh38]
ChrX:21374718..21642481 [GRCh37]
ChrX:21284639..21552402 [NCBI36]
ChrX:Xp22.12
pathogenic|uncertain significance
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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_014927.5(CNKSR2):c.192A>G (p.Glu64=) single nucleotide variant not provided [RCV000175866] ChrX:21426624 [GRCh38]
ChrX:21444742 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2609A>G (p.Asp870Gly) single nucleotide variant not provided [RCV000176095] ChrX:21609534 [GRCh38]
ChrX:21627652 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014927.5(CNKSR2):c.114del (p.Ile39fs) deletion not provided [RCV000280490] ChrX:21426546 [GRCh38]
ChrX:21444664 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_014927.5(CNKSR2):c.2340_2344del (p.His782fs) deletion not provided [RCV000309030] ChrX:21609265..21609269 [GRCh38]
ChrX:21627383..21627387 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=) single nucleotide variant not provided [RCV000380649] ChrX:21563302 [GRCh38]
ChrX:21581420 [GRCh37]
ChrX:Xp22.12
conflicting interpretations of pathogenicity|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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014927.5(CNKSR2):c.2945C>G (p.Thr982Arg) single nucleotide variant not provided [RCV000479453] ChrX:21652361 [GRCh38]
ChrX:21670479 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.3017del (p.Thr1005_Ser1006insTer) deletion not provided [RCV000479683] ChrX:21652433 [GRCh38]
ChrX:21670551 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter) single nucleotide variant not provided [RCV000482053] ChrX:21532046 [GRCh38]
ChrX:21550164 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_014927.5(CNKSR2):c.2152T>A (p.Cys718Ser) single nucleotide variant not provided [RCV000483923] ChrX:21609077 [GRCh38]
ChrX:21627195 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2145+1G>A single nucleotide variant not provided [RCV000482744] ChrX:21606880 [GRCh38]
ChrX:21624998 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_014927.5(CNKSR2):c.136C>T (p.Arg46Cys) single nucleotide variant not provided [RCV000484613] ChrX:21426568 [GRCh38]
ChrX:21444686 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2224C>T (p.His742Tyr) single nucleotide variant not provided [RCV000484888] ChrX:21609149 [GRCh38]
ChrX:21627267 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2095A>C (p.Lys699Gln) single nucleotide variant not provided [RCV000485647] ChrX:21606829 [GRCh38]
ChrX:21624947 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2554G>A (p.Gly852Arg) single nucleotide variant not provided [RCV000487358] ChrX:21609479 [GRCh38]
ChrX:21627597 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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_014927.5(CNKSR2):c.2449C>T (p.Leu817=) single nucleotide variant not provided [RCV000898778]|not specified [RCV000597512] ChrX:21609374 [GRCh38]
ChrX:21627492 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_014927.5(CNKSR2):c.1303+1G>C single nucleotide variant X-linked recessive seizure and neurodevelopmental deficit [RCV000578363] ChrX:21532068 [GRCh38]
ChrX:21550186 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.12(chrX:21406789-21764818)x3 copy number gain not provided [RCV000684287] ChrX:21406789..21764818 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:20572692-21957308)x3 copy number gain not provided [RCV000753417] ChrX:20572692..21957308 [GRCh37]
ChrX:Xp22.12-22.11
benign
GRCh37/hg19 Xp22.12(chrX:20727793-21673467)x3 copy number gain not provided [RCV000753418] ChrX:20727793..21673467 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.12(chrX:21226700-21673133)x3 copy number gain not provided [RCV000753419] ChrX:21226700..21673133 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014927.5(CNKSR2):c.988G>A (p.Val330Ile) single nucleotide variant not provided [RCV000976678] ChrX:21526897 [GRCh38]
ChrX:21545015 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.128A>G (p.Gln43Arg) single nucleotide variant Intellectual disability [RCV000760271] ChrX:21426560 [GRCh38]
ChrX:21444678 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.228+1G>A single nucleotide variant Intellectual disability [RCV000760277] ChrX:21426661 [GRCh38]
ChrX:21444779 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_014927.5(CNKSR2):c.2398A>G (p.Ile800Val) single nucleotide variant not provided [RCV000971709] ChrX:21609323 [GRCh38]
ChrX:21627441 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.525T>C (p.Cys175=) single nucleotide variant not provided [RCV000969339] ChrX:21470771 [GRCh38]
ChrX:21488889 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.2610C>T (p.Asp870=) single nucleotide variant not provided [RCV000899068] ChrX:21609535 [GRCh38]
ChrX:21627653 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.2637_2639GGA[8] (p.Glu886dup) microsatellite not provided [RCV000915358] ChrX:21609559..21609560 [GRCh38]
ChrX:21627677..21627678 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.2693-10_2693-9insTTTTTTTTTTTTTTTTTT insertion not provided [RCV000902306] ChrX:21648821..21648822 [GRCh38]
ChrX:21666939..21666940 [GRCh37]
ChrX:Xp22.12
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_014927.5(CNKSR2):c.2300C>T (p.Ser767Phe) single nucleotide variant not provided [RCV000782047] ChrX:21609225 [GRCh38]
ChrX:21627343 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_014927.5(CNKSR2):c.2961A>G (p.Gln987=) single nucleotide variant not provided [RCV000906200] ChrX:21652377 [GRCh38]
ChrX:21670495 [GRCh37]
ChrX:Xp22.12
likely benign
NM_014927.5(CNKSR2):c.896G>A (p.Ser299Asn) single nucleotide variant not provided [RCV000813942] ChrX:21516570 [GRCh38]
ChrX:21534688 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.1517dup (p.Thr507fs) duplication not provided [RCV000999347] ChrX:21563358..21563359 [GRCh38]
ChrX:21581476..21581477 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.12(chrX:21453267-21492209)x2 copy number gain not provided [RCV000848112] ChrX:21453267..21492209 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.12(chrX:21442277-21496056)x2 copy number gain not provided [RCV000848764] ChrX:21442277..21496056 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV000785133] ChrX:21591098 [GRCh38]
ChrX:21609216 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
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_014927.5(CNKSR2):c.2495T>C (p.Met832Thr) single nucleotide variant not provided [RCV000999348] ChrX:21609420 [GRCh38]
ChrX:21627538 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.3065C>T (p.Ser1022Phe) single nucleotide variant Intellectual disability [RCV001260687]|not provided [RCV000999349] ChrX:21652481 [GRCh38]
ChrX:21670599 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001196461] ChrX:21561500 [GRCh38]
ChrX:21579618 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014927.5(CNKSR2):c.3088A>C (p.Ile1030Leu) single nucleotide variant not provided [RCV001092570] ChrX:21652504 [GRCh38]
ChrX:21670622 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2926C>T (p.Leu976=) single nucleotide variant not provided [RCV000886328] ChrX:21652342 [GRCh38]
ChrX:21670460 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001197185] ChrX:21426505 [GRCh38]
ChrX:21444623 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2983G>A (p.Asp995Asn) single nucleotide variant not provided [RCV000958313] ChrX:21652399 [GRCh38]
ChrX:21670517 [GRCh37]
ChrX:Xp22.12
benign
NM_014927.5(CNKSR2):c.2020_2021AG[3] (p.Arg676fs) microsatellite not provided [RCV001008396] ChrX:21601325..21601326 [GRCh38]
ChrX:21619443..21619444 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.12(chrX:21261124-21835952)x3 copy number gain not provided [RCV001007272] ChrX:21261124..21835952 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2644G>A (p.Glu882Lys) single nucleotide variant not provided [RCV001092569] ChrX:21609569 [GRCh38]
ChrX:21627687 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) deletion Intellectual disability, X-linked, syndromic, Houge type [RCV001253675] ChrX:21601292..21601293 [GRCh38]
ChrX:21619410..21619411 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001253723] ChrX:21591075 [GRCh38]
ChrX:21609193 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.1977-1G>A single nucleotide variant Intellectual disability [RCV001260689] ChrX:21601281 [GRCh38]
ChrX:21619399 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001331986] ChrX:21563291 [GRCh38]
ChrX:21581409 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del) microsatellite Intellectual disability, X-linked, syndromic, Houge type [RCV001291809] ChrX:21609560..21609565 [GRCh38]
ChrX:21627678..21627683 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.298C>T (p.Gln100Ter) single nucleotide variant not provided [RCV001268320] ChrX:21432681 [GRCh38]
ChrX:21450799 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014927.5(CNKSR2):c.958-1G>A single nucleotide variant Intellectual disability [RCV001260688] ChrX:21526866 [GRCh38]
ChrX:21544984 [GRCh37]
ChrX:Xp22.12
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_014927.5(CNKSR2):c.2723C>T (p.Ser908Leu) single nucleotide variant not provided [RCV001337268] ChrX:21648861 [GRCh38]
ChrX:21666979 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001331987] ChrX:21595038 [GRCh38]
ChrX:21613156 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln) single nucleotide variant Intellectual disability, X-linked, syndromic, Houge type [RCV001331988] ChrX:21648887 [GRCh38]
ChrX:21667005 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_014927.5(CNKSR2):c.2248A>T (p.Thr750Ser) single nucleotide variant not provided [RCV001311823] ChrX:21609173 [GRCh38]
ChrX:21627291 [GRCh37]
ChrX:Xp22.12
likely benign
NM_014927.5(CNKSR2):c.1280del (p.Arg427fs) deletion not provided [RCV001311822] ChrX:21532044 [GRCh38]
ChrX:21550162 [GRCh37]
ChrX:Xp22.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19701 AgrOrtholog
COSMIC CNKSR2 COSMIC
Ensembl Genes ENSG00000149970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000279451 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000368824 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397906 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444633 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494115 UniProtKB/TrEMBL
  ENSP00000494416 UniProtKB/TrEMBL
  ENSP00000494906 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494962 UniProtKB/TrEMBL
  ENSP00000494983 UniProtKB/TrEMBL
  ENSP00000495012 UniProtKB/TrEMBL
  ENSP00000495189 UniProtKB/TrEMBL
  ENSP00000495325 UniProtKB/TrEMBL
  ENSP00000495501 UniProtKB/TrEMBL
  ENSP00000495695 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495954 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000496088 UniProtKB/TrEMBL
  ENSP00000496186 UniProtKB/TrEMBL
  ENSP00000496573 UniProtKB/TrEMBL
  ENSP00000496709 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000279451 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000379510 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425654 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543067 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642359 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642501 UniProtKB/TrEMBL
  ENST00000643156 UniProtKB/TrEMBL
  ENST00000643171 UniProtKB/TrEMBL
  ENST00000643220 UniProtKB/TrEMBL
  ENST00000643313 UniProtKB/TrEMBL
  ENST00000643841 UniProtKB/TrEMBL
  ENST00000644095 UniProtKB/TrEMBL
  ENST00000644295 UniProtKB/TrEMBL
  ENST00000644585 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000644798 UniProtKB/TrEMBL
  ENST00000645074 UniProtKB/TrEMBL
  ENST00000645245 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000645791 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000646697 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149970 GTEx
HGNC ID HGNC:19701 ENTREZGENE
Human Proteome Map CNKSR2 Human Proteome Map
InterPro CNKSR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRIC_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22866 UniProtKB/Swiss-Prot
NCBI Gene 22866 ENTREZGENE
OMIM 300724 OMIM
  301008 OMIM
Pfam CRIC_ras_sig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134867759 PharmGKB
PROSITE CRIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y5R2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5S6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y604_HUMAN UniProtKB/TrEMBL
  A0A2R8Y622_HUMAN UniProtKB/TrEMBL
  A0A2R8Y700_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7A1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7K8_HUMAN UniProtKB/TrEMBL
  A0A2R8YDB6_HUMAN UniProtKB/TrEMBL
  A0A2R8YE27_HUMAN UniProtKB/TrEMBL
  A0A2R8YE65_HUMAN UniProtKB/TrEMBL
  A0A2R8YE71_HUMAN UniProtKB/TrEMBL
  A0A2R8YED7_HUMAN UniProtKB/TrEMBL
  A0A2R8YFM1_HUMAN UniProtKB/TrEMBL
  A0A2R8YGJ7_HUMAN UniProtKB/TrEMBL
  A0A2U3TZH5_HUMAN UniProtKB/TrEMBL
  B3KPN2 ENTREZGENE, UniProtKB/TrEMBL
  CNKR2_HUMAN UniProtKB/Swiss-Prot
  L8E9Q3_HUMAN UniProtKB/TrEMBL
  Q8WXI2 ENTREZGENE
UniProt Secondary B4DGR4 UniProtKB/Swiss-Prot
  B7ZLJ1 UniProtKB/Swiss-Prot
  B9EG83 UniProtKB/Swiss-Prot
  E7ESA4 UniProtKB/Swiss-Prot
  O94976 UniProtKB/Swiss-Prot
  Q5JPK4 UniProtKB/Swiss-Prot
  Q5JPN0 UniProtKB/Swiss-Prot
  Q8WXI1 UniProtKB/Swiss-Prot