CDKL5 (cyclin dependent kinase like 5) - Rat Genome Database

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Gene: CDKL5 (cyclin dependent kinase like 5) Homo sapiens
Analyze
Symbol: CDKL5
Name: cyclin dependent kinase like 5
RGD ID: 1353625
HGNC Page HGNC
Description: Exhibits ATP binding activity and protein kinase activity. Involved in protein autophosphorylation; regulation of cilium assembly; and regulation of postsynapse organization. Localizes to several cellular components, including ciliary tip; glutamatergic synapse; and microtubule organizing center. Predicted to colocalize with ruffle membrane. Implicated in Rett syndrome; developmental and epileptic encephalopathy 2; intellectual disability; and visual epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CFAP247; cyclin dependent kinase 5 transcript; cyclin-dependent kinase-like 5; DEE2; EIEE2; ISSX; serine/threonine kinase 9; serine/threonine-protein kinase 9; STK9
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 EnsemblX18,425,583 - 18,653,629 (+)EnsemblGRCh38hg38GRCh38
GRCh38X18,425,608 - 18,653,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,443,728 - 18,671,749 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,353,646 - 18,581,670 (+)NCBINCBI36hg18NCBI36
Build 34X18,203,413 - 18,431,402NCBI
CeleraX22,563,823 - 22,791,841 (+)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,199,185 - 16,425,423 (+)NCBIHuRef
CHM1_1X18,474,049 - 18,702,829 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal muscle tone  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormality of skin morphology  (IAGP)
Absent thumbnail  (IAGP)
Agitation  (IAGP)
Anteverted nares  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad forehead  (IAGP)
Broad phalanx of the toes  (IAGP)
Broad proximal phalanges of the hand  (IAGP)
Bruxism  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Constipation  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Delayed gross motor development  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Developmental stagnation  (IAGP)
Difficulty walking  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Episodic ataxia  (IAGP)
Episodic tachypnea  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Focal-onset seizure  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Functional motor deficit  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
Hand apraxia  (IAGP)
High forehead  (IAGP)
Hyperactivity  (IAGP)
Hyperventilation  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Impaired pain sensation  (IAGP)
Inability to walk  (IAGP)
Inappropriate crying  (IAGP)
Inappropriate laughter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Kyphosis  (IAGP)
Limb myoclonus  (IAGP)
Loss of ability to walk  (IAGP)
Loss of speech  (IAGP)
Macular schisis  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Moderate global developmental delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Multifocal seizures  (IAGP)
Mutism  (IAGP)
Myoclonus  (IAGP)
Narrow forehead  (IAGP)
Neonatal hypotonia  (IAGP)
Pachygyria  (IAGP)
Panic attack  (IAGP)
Pill-rolling tremor  (IAGP)
Poor eye contact  (IAGP)
Poor head control  (IAGP)
Precocious puberty  (IAGP)
Progressive microcephaly  (IAGP)
Prominent forehead  (IAGP)
Renal dysplasia  (IAGP)
Restrictive behavior  (IAGP)
Retinal dystrophy  (IAGP)
Retinoschisis  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Severe global developmental delay  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Sleep disturbance  (IAGP)
Sleep-wake cycle disturbance  (IAGP)
Sloping forehead  (IAGP)
Small hand  (IAGP)
Spasticity  (IAGP)
Stereotypical body rocking  (IAGP)
Stereotypical hand wringing  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Sudden episodic apnea  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Tongue thrusting  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:8864140   PMID:9721213   PMID:12477932   PMID:12736870   PMID:15489334   PMID:15492925   PMID:15499549   PMID:15635068   PMID:15689447   PMID:15772651   PMID:15917271   PMID:16015284  
PMID:16226712   PMID:16326141   PMID:16611748   PMID:16935860   PMID:17049193   PMID:17089071   PMID:17474147   PMID:17993579   PMID:18029348   PMID:18063413   PMID:18266744   PMID:18701457  
PMID:18790821   PMID:18809835   PMID:19241098   PMID:19428276   PMID:19471977   PMID:19552836   PMID:19564592   PMID:19734009   PMID:19740913   PMID:19780792   PMID:19793311   PMID:20397747  
PMID:20493745   PMID:20513142   PMID:20602487   PMID:20728410   PMID:21107515   PMID:21124335   PMID:21293276   PMID:21309761   PMID:21318334   PMID:21502606   PMID:21750574   PMID:21765152  
PMID:21770923   PMID:21775177   PMID:21873635   PMID:21988832   PMID:22430159   PMID:22779007   PMID:22832775   PMID:22867051   PMID:22921766   PMID:22922712   PMID:23064044   PMID:23151060  
PMID:23583054   PMID:23602568   PMID:23756444   PMID:23828526   PMID:24564546   PMID:24738188   PMID:25266480   PMID:25468996   PMID:25762588   PMID:25864828   PMID:26186194   PMID:26239053  
PMID:26701947   PMID:27062609   PMID:27171548   PMID:27265524   PMID:27315173   PMID:27528505   PMID:28514442   PMID:28780406   PMID:29117863   PMID:29420175   PMID:29444904   PMID:29507755  
PMID:29510241   PMID:29618004   PMID:30266825   PMID:30344098   PMID:30377159   PMID:30378547   PMID:30561084   PMID:30639242   PMID:30928302   PMID:30929312   PMID:31108505   PMID:31225800  
PMID:31717404   PMID:31925439   PMID:31942678   PMID:32002787   PMID:32034940   PMID:32105570   PMID:32111237   PMID:32125365   PMID:32296183   PMID:33044867  


Genomics

Comparative Map Data
CDKL5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX18,425,583 - 18,653,629 (+)EnsemblGRCh38hg38GRCh38
GRCh38X18,425,608 - 18,653,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,443,728 - 18,671,749 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,353,646 - 18,581,670 (+)NCBINCBI36hg18NCBI36
Build 34X18,203,413 - 18,431,402NCBI
CeleraX22,563,823 - 22,791,841 (+)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,199,185 - 16,425,423 (+)NCBIHuRef
CHM1_1X18,474,049 - 18,702,829 (+)NCBICHM1_1
Cdkl5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X159,567,304 - 159,777,677 (-)NCBIGRCm39mm39
GRCm39 EnsemblX159,554,919 - 159,777,700 (-)Ensembl
GRCm38X160,784,308 - 160,994,681 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX160,771,923 - 160,994,704 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X157,222,240 - 157,432,613 (-)NCBIGRCm37mm9NCBIm37
CeleraX144,024,211 - 144,235,023 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
Cdkl5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X33,757,605 - 33,988,075 (+)NCBI
Rnor_6.0 EnsemblX35,599,258 - 35,771,711 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X35,536,396 - 35,773,204 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X35,864,921 - 36,102,409 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,033,499 - 55,228,646 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX34,451,035 - 34,675,154 (+)NCBICelera
Cytogenetic MapXq14NCBI
Cdkl5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955586809,386 - 997,485 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955586791,886 - 997,713 (-)NCBIChiLan1.0ChiLan1.0
CDKL5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X18,412,018 - 18,638,735 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX18,492,329 - 18,638,735 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X11,047,357 - 11,261,172 (+)NCBIMhudiblu_PPA_v0panPan3
CDKL5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X14,512,226 - 14,725,348 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX14,512,178 - 14,725,233 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X14,472,365 - 14,691,693 (+)NCBI
UMICH_Zoey_3.1X14,539,994 - 14,752,603 (+)NCBI
UNSW_CanFamBas_1.0X14,533,192 - 14,745,807 (+)NCBI
UU_Cfam_GSD_1.0X14,596,867 - 14,809,610 (+)NCBI
Cdkl5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X7,612,076 - 7,808,649 (+)NCBI
SpeTri2.0NW_004936844101,815 - 271,254 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDKL5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX14,858,931 - 15,078,855 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X14,858,826 - 15,096,969 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,199,743 - 16,304,073 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDKL5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X16,955,540 - 17,101,513 (+)NCBI
Cdkl5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248293,288,239 - 3,479,620 (+)NCBI

Position Markers
SGC35640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,622,564 - 18,622,786UniSTSGRCh37
Build 36X18,532,485 - 18,532,707RGDNCBI36
CeleraX22,742,662 - 22,742,884RGD
Cytogenetic MapXp22UniSTS
HuRefX16,377,169 - 16,377,391UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
Whitehead-RH MapX17.1UniSTS
A003B18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,653,472 - 18,653,718UniSTSGRCh37
Build 36X18,563,393 - 18,563,639RGDNCBI36
CeleraX22,773,570 - 22,773,816RGD
Cytogenetic MapXp22UniSTS
HuRefX16,407,657 - 16,407,903UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
DXS8000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,625,293 - 18,625,454UniSTSGRCh37
Build 36X18,535,214 - 18,535,375RGDNCBI36
CeleraX22,745,391 - 22,745,552RGD
Cytogenetic MapXp22UniSTS
HuRefX16,379,898 - 16,380,059UniSTS
CHLC.GGAT18G07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,619,456 - 18,619,553UniSTSGRCh37
Build 36X18,529,377 - 18,529,474RGDNCBI36
CeleraX22,739,555 - 22,739,652RGD
Cytogenetic MapXp22UniSTS
HuRefX16,373,841 - 16,373,938UniSTS
STS-H55764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,629,667 - 18,629,886UniSTSGRCh37
Build 36X18,539,588 - 18,539,807RGDNCBI36
CeleraX22,749,765 - 22,749,984RGD
Cytogenetic MapXp22UniSTS
HuRefX16,384,271 - 16,384,490UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
SHGC-170800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,537,869 - 18,538,197UniSTSGRCh37
Build 36X18,447,790 - 18,448,118RGDNCBI36
CeleraX22,657,967 - 22,658,295RGD
Cytogenetic MapXp22UniSTS
HuRefX16,292,563 - 16,292,891UniSTS
TNG Radiation Hybrid MapX5080.0UniSTS
RH11240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,658,057 - 18,658,219UniSTSGRCh37
Build 36X18,567,978 - 18,568,140RGDNCBI36
CeleraX22,778,149 - 22,778,311RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22UniSTS
HuRefX16,412,236 - 16,412,398UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
DXS7038E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,651,148 - 18,651,309UniSTSGRCh37
Build 36X18,561,069 - 18,561,230RGDNCBI36
CeleraX22,771,246 - 22,771,407RGD
Cytogenetic MapXp22UniSTS
HuRefX16,405,333 - 16,405,494UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
L77289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,642,542 - 18,642,697UniSTSGRCh37
Build 36X18,552,463 - 18,552,618RGDNCBI36
CeleraX22,762,640 - 22,762,795RGD
Cytogenetic MapXp22UniSTS
HuRefX16,396,786 - 16,396,941UniSTS
L77279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,490,376 - 18,490,487UniSTSGRCh37
Build 36X18,400,297 - 18,400,408RGDNCBI36
CeleraX22,610,474 - 22,610,585RGD
Cytogenetic MapXp22UniSTS
HuRefX16,245,063 - 16,245,174UniSTS
SHGC-32426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,658,158 - 18,658,307UniSTSGRCh37
Build 36X18,568,079 - 18,568,228RGDNCBI36
CeleraX22,778,250 - 22,778,399RGD
Cytogenetic MapXp22.13UniSTS
Cytogenetic MapXp22UniSTS
HuRefX16,412,337 - 16,412,486UniSTS
A009V26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,629,756 - 18,629,877UniSTSGRCh37
Build 36X18,539,677 - 18,539,798RGDNCBI36
CeleraX22,749,854 - 22,749,975RGD
Cytogenetic MapXp22UniSTS
HuRefX16,384,360 - 16,384,481UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
DXS8368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,567,232 - 18,567,325UniSTSGRCh37
Build 36X18,477,153 - 18,477,246RGDNCBI36
CeleraX22,687,330 - 22,687,423RGD
Cytogenetic MapXp22UniSTS
HuRefX16,321,461 - 16,321,554UniSTS
G32881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,629,756 - 18,629,877UniSTSGRCh37
CeleraX22,749,854 - 22,749,975UniSTS
Cytogenetic MapXp22UniSTS
HuRefX16,384,360 - 16,384,481UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:555
Count of miRNA genes:304
Interacting mature miRNAs:313
Transcripts:ENST00000379989, ENST00000379996, ENST00000463994
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 5 144 7 3 9 3 114 6 460 37 43 111 48
Low 2389 2605 1551 466 1658 308 4194 2082 3231 317 1354 1471 170 1202 2699 4
Below cutoff 36 235 149 137 276 137 48 106 35 63 46 27 1 2 41

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI286150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL704691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW452901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY217744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ171445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379989   ⟹   ENSP00000369325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,442,188 - 18,653,629 (+)Ensembl
RefSeq Acc Id: ENST00000379996   ⟹   ENSP00000369332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,425,583 - 18,653,625 (+)Ensembl
RefSeq Acc Id: ENST00000463994   ⟹   ENSP00000485184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,442,275 - 18,619,944 (+)Ensembl
RefSeq Acc Id: ENST00000623364   ⟹   ENSP00000485581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,442,224 - 18,575,390 (+)Ensembl
RefSeq Acc Id: ENST00000623535   ⟹   ENSP00000485244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,425,608 - 18,640,196 (+)Ensembl
RefSeq Acc Id: ENST00000623610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,587,686 - 18,589,815 (+)Ensembl
RefSeq Acc Id: ENST00000624700   ⟹   ENSP00000485359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,442,228 - 18,575,414 (+)Ensembl
RefSeq Acc Id: ENST00000624953   ⟹   ENSP00000485625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,442,213 - 18,507,149 (+)Ensembl
RefSeq Acc Id: ENST00000635828   ⟹   ENSP00000490170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,426,198 - 18,627,734 (+)Ensembl
RefSeq Acc Id: ENST00000636046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,497,318 - 18,506,973 (+)Ensembl
RefSeq Acc Id: ENST00000637881   ⟹   ENSP00000489879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,426,713 - 18,604,337 (+)Ensembl
RefSeq Acc Id: ENST00000673617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,649,804 - 18,653,557 (+)Ensembl
RefSeq Acc Id: ENST00000674046   ⟹   ENSP00000501174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,425,608 - 18,640,196 (+)Ensembl
RefSeq Acc Id: NM_001037343   ⟹   NP_001032420
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,442,224 - 18,653,629 (+)NCBI
GRCh37X18,443,725 - 18,671,749 (+)ENTREZGENE
Build 36X18,370,265 - 18,581,670 (+)NCBI Archive
HuRefX16,199,185 - 16,425,423 (+)ENTREZGENE
CHM1_1X18,490,668 - 18,702,829 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323289   ⟹   NP_001310218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,425,608 - 18,640,196 (+)NCBI
CHM1_1X18,555,705 - 18,684,833 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003159   ⟹   NP_003150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,425,608 - 18,653,629 (+)NCBI
GRCh37X18,443,725 - 18,671,749 (+)ENTREZGENE
Build 36X18,353,646 - 18,581,670 (+)NCBI Archive
HuRefX16,199,185 - 16,425,423 (+)ENTREZGENE
CHM1_1X18,474,049 - 18,702,829 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003150   ⟸   NM_003159
- Peptide Label: isoform 1
- UniProtKB: O76039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001032420   ⟸   NM_001037343
- Peptide Label: isoform 1
- UniProtKB: O76039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310218   ⟸   NM_001323289
- Peptide Label: isoform 2
- UniProtKB: O76039 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000485184   ⟸   ENST00000463994
RefSeq Acc Id: ENSP00000501174   ⟸   ENST00000674046
RefSeq Acc Id: ENSP00000490170   ⟸   ENST00000635828
RefSeq Acc Id: ENSP00000485581   ⟸   ENST00000623364
RefSeq Acc Id: ENSP00000489879   ⟸   ENST00000637881
RefSeq Acc Id: ENSP00000485244   ⟸   ENST00000623535
RefSeq Acc Id: ENSP00000485625   ⟸   ENST00000624953
RefSeq Acc Id: ENSP00000485359   ⟸   ENST00000624700
RefSeq Acc Id: ENSP00000369325   ⟸   ENST00000379989
RefSeq Acc Id: ENSP00000369332   ⟸   ENST00000379996
Protein Domains
Protein kinase

Promoters
RGD ID:6808567
Promoter ID:HG_KWN:66151
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000055946
Position:
Human AssemblyChrPosition (strand)Source
Build 36X18,352,841 - 18,353,772 (+)MPROMDB
RGD ID:13604864
Promoter ID:EPDNEW_H28616
Type:initiation region
Name:CDKL5_1
Description:cyclin dependent kinase like 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28617  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,425,608 - 18,425,668EPDNEW
RGD ID:13604866
Promoter ID:EPDNEW_H28617
Type:single initiation site
Name:CDKL5_2
Description:cyclin dependent kinase like 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28616  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,501,570 - 18,501,630EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000023.10:g.18528965G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000518084] ChrX:18528965 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_003159.2(CDKL5):c.2797+1190_2797+1206delinsACTCTAACCCGGTCAGGGGA indel not provided [RCV000521991] ChrX:18647280..18647296 [GRCh38]
ChrX:18665400..18665416 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000560461] ChrX:18604170 [GRCh38]
ChrX:18622290 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs) indel not provided [RCV000518908] ChrX:18628467..18628490 [GRCh38]
ChrX:18646587..18646610 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.100-2A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000169990]|Early infantile epileptic encephalopathy 2 [RCV001046060]|not provided [RCV000144120] ChrX:18564475 [GRCh38]
ChrX:18582595 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.145+2T>C single nucleotide variant Atypical Rett syndrome [RCV000169999]|not provided [RCV000144121] ChrX:18564524 [GRCh38]
ChrX:18582644 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13) microsatellite not provided [RCV000144122]|not specified [RCV000169953] ChrX:18564526..18564527 [GRCh38]
ChrX:18582646..18582647 [GRCh37]
ChrX:Xp22.13
pathogenic|benign|not provided
NM_001323289.2(CDKL5):c.2046+79G>A single nucleotide variant not provided [RCV000144123]|not specified [RCV000169956] ChrX:18608991 [GRCh38]
ChrX:18627111 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.2047-1G>A single nucleotide variant Atypical Rett syndrome [RCV000170016]|not provided [RCV000144124] ChrX:18609464 [GRCh38]
ChrX:18627584 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2152+48C>T single nucleotide variant not provided [RCV000144125]|not specified [RCV000169975] ChrX:18609618 [GRCh38]
ChrX:18627738 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_001323289.2(CDKL5):c.2376+118T>A single nucleotide variant not provided [RCV000144126]|not specified [RCV000169958] ChrX:18620084 [GRCh38]
ChrX:18638204 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.2376+1G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170020]|not provided [RCV000144127] ChrX:18619967 [GRCh38]
ChrX:18638087 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2376+1G>C single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170021]|not provided [RCV000144128] ChrX:18619967 [GRCh38]
ChrX:18638087 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2376+5G>A single nucleotide variant Atypical Rett syndrome [RCV000169983]|not provided [RCV000144129] ChrX:18619971 [GRCh38]
ChrX:18638091 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_001323289.2(CDKL5):c.2377-31T>C single nucleotide variant not provided [RCV000144130]|not specified [RCV000169959] ChrX:18625097 [GRCh38]
ChrX:18643217 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.283-43G>A single nucleotide variant not provided [RCV000144131]|not specified [RCV000169976] ChrX:18579805 [GRCh38]
ChrX:18597925 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_001323289.2(CDKL5):c.283-99C>A single nucleotide variant not provided [RCV000144132]|not specified [RCV000169962] ChrX:18579749 [GRCh38]
ChrX:18597869 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.403+49_403+53del deletion not provided [RCV000144133]|not specified [RCV000169978] ChrX:18580014..18580018 [GRCh38]
ChrX:18598134..18598138 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_001323289.2(CDKL5):c.404-1G>T single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170042]|not provided [RCV000144134] ChrX:18581890 [GRCh38]
ChrX:18600010 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.463+1G>A single nucleotide variant Atypical Rett syndrome [RCV000170044]|not provided [RCV000144135] ChrX:18581951 [GRCh38]
ChrX:18600071 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.463+22T>C single nucleotide variant not provided [RCV000144136]|not specified [RCV000169968] ChrX:18581972 [GRCh38]
ChrX:18600092 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.464-2A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170046]|not provided [RCV000144137] ChrX:18584261 [GRCh38]
ChrX:18602381 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.464-40_464-37del deletion not provided [RCV000144138]|not specified [RCV000169979] ChrX:18584220..18584223 [GRCh38]
ChrX:18602340..18602343 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_001323289.2(CDKL5):c.554+11G>A single nucleotide variant not provided [RCV000144139]|not specified [RCV000169969] ChrX:18584364 [GRCh38]
ChrX:18602484 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.64+2del deletion Early infantile epileptic encephalopathy 2 [RCV000170051]|not provided [RCV000144141] ChrX:18507162 [GRCh38]
ChrX:18525282 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.978-23T>C single nucleotide variant not provided [RCV000144142]|not specified [RCV000169972] ChrX:18603879 [GRCh38]
ChrX:18621999 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.978-2A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170057]|not provided [RCV000144143] ChrX:18603900 [GRCh38]
ChrX:18622020 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_003159.2(CDKL5):c.978-50_978-42del9 deletion not provided [RCV000144144] ChrX:18603852..18603860 [GRCh38]
ChrX:18621972..18621980 [GRCh37]
ChrX:Xp22.13
not provided
NM_001323289.2(CDKL5):c.99+1G>T single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170058]|West syndrome [RCV000659286]|not provided [RCV000144145] ChrX:18510855 [GRCh38]
ChrX:18528975 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_001323289.2(CDKL5):c.99+29T>G single nucleotide variant not provided [RCV000144146]|not specified [RCV000170065] ChrX:18510883 [GRCh38]
ChrX:18529003 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000547851] ChrX:18604655 [GRCh38]
ChrX:18622775 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) deletion Early infantile epileptic encephalopathy 2 [RCV000640491] ChrX:18588123 [GRCh38]
ChrX:18606243 [GRCh37]
ChrX:Xp22.13
pathogenic
NC_000023.11:g.(?_18564457)_(18581970_?)del deletion Early infantile epileptic encephalopathy 2 [RCV000640504] ChrX:18564457..18581970 [GRCh38]
ChrX:18582577..18600090 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000548702] ChrX:18619935 [GRCh38]
ChrX:18638055 [GRCh37]
ChrX:Xp22.13
pathogenic
CDKL5, 1-BP DEL, 183T deletion Early infantile epileptic encephalopathy 2 [RCV000012249] ChrX:Xp22 pathogenic
CDKL5, IVSAS13, G-A, -1 single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000012250] ChrX:Xp22 pathogenic
CDKL5, 4-BP DEL, 166GAAA deletion Early infantile epileptic encephalopathy 2 [RCV000012253] ChrX:Xp22 pathogenic
CDKL5, 2-BP DEL, 2636CT deletion Early infantile epileptic encephalopathy 2 [RCV000012254] ChrX:Xp22 pathogenic
CDKL5, IVS6AS, G-T, -1 single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000012256] ChrX:Xp22 pathogenic
CDKL5, 2-BP INS, 903GA insertion Early infantile epileptic encephalopathy 2 [RCV000012261] ChrX:Xp22 pathogenic
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000556184] ChrX:18646009 [GRCh38]
ChrX:18664129 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.554+1G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000578286]|not provided [RCV000727374] ChrX:18584354 [GRCh38]
ChrX:18602474 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) single nucleotide variant Atypical Rett syndrome [RCV000133370]|Early infantile epileptic encephalopathy 2 [RCV000012251] ChrX:18581942 [GRCh38]
ChrX:18600062 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) single nucleotide variant Atypical Rett syndrome [RCV000133372]|Early infantile epileptic encephalopathy 2 [RCV000012252] ChrX:18584324 [GRCh38]
ChrX:18602444 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) single nucleotide variant Atypical Rett syndrome [RCV000133352]|Early infantile epileptic encephalopathy 2 [RCV000012255] ChrX:18628374 [GRCh38]
ChrX:18646494 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) single nucleotide variant Atypical Rett syndrome [RCV000133317]|Early infantile epileptic encephalopathy 2 [RCV000012257]|Early infantile epileptic encephalopathy 2 [RCV000699210] ChrX:18564496 [GRCh38]
ChrX:18582616 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000012258]|Rett syndrome [RCV000169913]|not provided [RCV000080068] ChrX:18575423 [GRCh38]
ChrX:18593543 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000012259] ChrX:18598499 [GRCh38]
ChrX:18616619 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000012260]|Early infantile epileptic encephalopathy 2 [RCV001203327] ChrX:18598508 [GRCh38]
ChrX:18616628 [GRCh37]
ChrX:Xp22.13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000012262]|Early infantile epileptic encephalopathy 2 [RCV001035195] ChrX:18584332 [GRCh38]
ChrX:18602452 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.13(chrX:18643580-18838741)x2 copy number gain See cases [RCV000052365] ChrX:18643580..18838741 [GRCh38]
ChrX:18661700..18856859 [GRCh37]
ChrX:18571621..18766780 [NCBI36]
ChrX:Xp22.13
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 Xp22.2-22.13(chrX:17167171-18804175)x1 copy number loss See cases [RCV000053060] ChrX:17167171..18804175 [GRCh38]
ChrX:17185294..18822293 [GRCh37]
ChrX:17095215..18732214 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX: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 Xp22.33-11.21(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-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) deletion Early infantile epileptic encephalopathy 2 [RCV000662019] ChrX:18625201..18625208 [GRCh38]
ChrX:18643321..18643328 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000466491]|History of neurodevelopmental disorder [RCV000719161]|not specified [RCV000080066] ChrX:18604721 [GRCh38]
ChrX:18622841 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000460932]|not specified [RCV000173035] ChrX:18575388 [GRCh38]
ChrX:18593508 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145528]|not provided [RCV000723650]|not specified [RCV000212396] ChrX:18613199 [GRCh38]
ChrX:18631319 [GRCh37]
ChrX:Xp22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145536]|not provided [RCV000080070] ChrX:18628527 [GRCh38]
ChrX:18646647 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000473418]|History of neurodevelopmental disorder [RCV000715094]|West syndrome [RCV000659292]|not provided [RCV000224801]|not specified [RCV000080071] ChrX:18653446 [GRCh38]
ChrX:18671566 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000600588]|Early infantile epileptic encephalopathy 2 [RCV001084065]|History of neurodevelopmental disorder [RCV000717700]|not provided [RCV000233485]|not specified [RCV000080072] ChrX:18653454 [GRCh38]
ChrX:18671574 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000606547]|Early infantile epileptic encephalopathy 2 [RCV001080945]|History of neurodevelopmental disorder [RCV000717699]|not provided [RCV000226052]|not specified [RCV000080073] ChrX:18653535 [GRCh38]
ChrX:18671655 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000169920]|Early infantile epileptic encephalopathy 2 [RCV001201864]|not provided [RCV000080074] ChrX:18584332 [GRCh38]
ChrX:18602452 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001323289.2(CDKL5):c.555-19C>G single nucleotide variant not provided [RCV000144140]|not specified [RCV000080075] ChrX:18587935 [GRCh38]
ChrX:18606055 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000556903]|History of neurodevelopmental disorder [RCV000717898]|not provided [RCV000723584]|not specified [RCV000145548] ChrX:18510848 [GRCh38]
ChrX:18528968 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000330.3(RS1):c.185-1G>C single nucleotide variant Juvenile retinoschisis [RCV001199775]|not provided [RCV000085243] ChrX:18647333 [GRCh38]
ChrX:18665453 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.194A>G (p.Tyr65Cys) single nucleotide variant not provided [RCV000085244] ChrX:18647323 [GRCh38]
ChrX:18665443 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2797+1233del deletion not provided [RCV000085245] ChrX:18647323 [GRCh38]
ChrX:18665443 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.208G>C (p.Gly70Arg) single nucleotide variant not provided [RCV000085247] ChrX:18647309 [GRCh38]
ChrX:18665429 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.209G>A (p.Gly70Asp) single nucleotide variant Juvenile retinoschisis [RCV001352955]|not provided [RCV000085248] ChrX:18647308 [GRCh38]
ChrX:18665428 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.214G>C (p.Glu72Gln) single nucleotide variant not provided [RCV000085250] ChrX:18647303 [GRCh38]
ChrX:18665423 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.217T>C (p.Ser73Pro) single nucleotide variant not provided [RCV000085252] ChrX:18647300 [GRCh38]
ChrX:18665420 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2797+1208del deletion not provided [RCV000085253] ChrX:18647298 [GRCh38]
ChrX:18665418 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.223G>T (p.Glu75Ter) single nucleotide variant not provided [RCV000085255] ChrX:18647294 [GRCh38]
ChrX:18665414 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.242T>A (p.Ile81Asn) single nucleotide variant not provided [RCV000085256] ChrX:18647275 [GRCh38]
ChrX:18665395 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.253_255del (p.Asn85del) deletion Retinal dystrophy [RCV001075078]|not provided [RCV000085257] ChrX:18647262..18647264 [GRCh38]
ChrX:18665382..18665384 [GRCh37]
ChrX:Xp22.13
likely pathogenic|uncertain significance|not provided
NM_000330.3(RS1):c.262C>T (p.Gln88Ter) single nucleotide variant not provided [RCV000085258] ChrX:18647255 [GRCh38]
ChrX:18665375 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.266A>G (p.Tyr89Cys) single nucleotide variant Juvenile retinoschisis [RCV000410595]|not provided [RCV000085259] ChrX:18647251 [GRCh38]
ChrX:18665371 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.267T>A (p.Tyr89Ter) single nucleotide variant not provided [RCV000085260] ChrX:18647250 [GRCh38]
ChrX:18665370 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.276G>C (p.Trp92Cys) single nucleotide variant not provided [RCV000085261] ChrX:18647241 [GRCh38]
ChrX:18665361 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.288G>A (p.Trp96Ter) single nucleotide variant not provided [RCV000085263] ChrX:18647229 [GRCh38]
ChrX:18665349 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.293C>A (p.Ala98Glu) single nucleotide variant not provided [RCV000085264] ChrX:18647224 [GRCh38]
ChrX:18665344 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.301G>C (p.Ala101Pro) single nucleotide variant not provided [RCV000085266] ChrX:18647216 [GRCh38]
ChrX:18665336 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2797+1127del deletion not provided [RCV000085267] ChrX:18647216 [GRCh38]
ChrX:18665336 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.308T>G (p.Leu103Arg) single nucleotide variant not provided [RCV000085270] ChrX:18647209 [GRCh38]
ChrX:18665329 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.312C>G (p.Asn104Lys) single nucleotide variant not provided [RCV000085271] ChrX:18647205 [GRCh38]
ChrX:18665325 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.318dup (p.Gly107fs) duplication Retinal dystrophy [RCV001073499]|not provided [RCV000085272] ChrX:18647198..18647199 [GRCh38]
ChrX:18665318..18665319 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.323T>G (p.Phe108Cys) single nucleotide variant not provided [RCV000085273] ChrX:18647194 [GRCh38]
ChrX:18665314 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.325G>T (p.Gly109Trp) single nucleotide variant not provided [RCV000085275] ChrX:18647192 [GRCh38]
ChrX:18665312 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.326+1G>A single nucleotide variant not provided [RCV000085276] ChrX:18647190 [GRCh38]
ChrX:18665310 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.326G>A (p.Gly109Glu) single nucleotide variant Retinoschisis [RCV001003220]|not provided [RCV000085277] ChrX:18647191 [GRCh38]
ChrX:18665311 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.329G>A (p.Cys110Tyr) single nucleotide variant Retinoschisis [RCV001003219]|not provided [RCV000085278] ChrX:18644623 [GRCh38]
ChrX:18662743 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.330T>A (p.Cys110Ter) single nucleotide variant not provided [RCV000085279] ChrX:18644622 [GRCh38]
ChrX:18662742 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.330T>C (p.Cys110=) single nucleotide variant not provided [RCV000085280]|not specified [RCV000242228] ChrX:18644622 [GRCh38]
ChrX:18662742 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_000330.3(RS1):c.336G>C (p.Trp112Cys) single nucleotide variant not provided [RCV000085281] ChrX:18644616 [GRCh38]
ChrX:18662736 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.336G>T (p.Trp112Cys) single nucleotide variant not provided [RCV000085282] ChrX:18644616 [GRCh38]
ChrX:18662736 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.337C>T (p.Leu113Phe) single nucleotide variant Retinal dystrophy [RCV001075784]|not provided [RCV000085283] ChrX:18644615 [GRCh38]
ChrX:18662735 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.349_350insT (p.Gln117fs) insertion not provided [RCV000085285] ChrX:18644602..18644603 [GRCh38]
ChrX:18662722..18662723 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.366G>C (p.Trp122Cys) single nucleotide variant not provided [RCV000085287] ChrX:18644586 [GRCh38]
ChrX:18662706 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1429_2714-1426del microsatellite not provided [RCV000085288] ChrX:18644574..18644577 [GRCh38]
ChrX:18662694..18662697 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.380T>C (p.Leu127Pro) single nucleotide variant not provided [RCV000085289] ChrX:18644572 [GRCh38]
ChrX:18662692 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1447_2714-1446del deletion not provided [RCV000085291] ChrX:18644559..18644560 [GRCh38]
ChrX:18662679..18662680 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.397A>T (p.Ile133Phe) single nucleotide variant not provided [RCV000085292] ChrX:18644555 [GRCh38]
ChrX:18662675 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.404G>T (p.Gly135Val) single nucleotide variant not provided [RCV000085293] ChrX:18644548 [GRCh38]
ChrX:18662668 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.407T>C (p.Ile136Thr) single nucleotide variant not provided [RCV000085294] ChrX:18644545 [GRCh38]
ChrX:18662665 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.412A>G (p.Thr138Ala) single nucleotide variant not provided [RCV000085295] ChrX:18644540 [GRCh38]
ChrX:18662660 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1471del deletion not provided [RCV000085296] ChrX:18644536 [GRCh38]
ChrX:18662656 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.418G>A (p.Gly140Arg) single nucleotide variant Retinoschisis [RCV001003218]|not provided [RCV000085297] ChrX:18644534 [GRCh38]
ChrX:18662654 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.419G>A (p.Gly140Glu) single nucleotide variant not provided [RCV000085298] ChrX:18644533 [GRCh38]
ChrX:18662653 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_000330.3(RS1):c.421C>G (p.Arg141Gly) single nucleotide variant not provided [RCV000085299] ChrX:18644531 [GRCh38]
ChrX:18662651 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.421C>T (p.Arg141Cys) single nucleotide variant Retinoschisis [RCV001003217]|not provided [RCV000085300] ChrX:18644531 [GRCh38]
ChrX:18662651 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.422G>A (p.Arg141His) single nucleotide variant Juvenile retinoschisis [RCV000411096]|not provided [RCV000085301] ChrX:18644530 [GRCh38]
ChrX:18662650 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.426T>C (p.Cys142=) single nucleotide variant not provided [RCV000085302] ChrX:18644526 [GRCh38]
ChrX:18662646 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.426T>G (p.Cys142Trp) single nucleotide variant not provided [RCV000085303] ChrX:18644526 [GRCh38]
ChrX:18662646 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-1480_2714-1479del microsatellite not provided [RCV000085304] ChrX:18644525..18644526 [GRCh38]
ChrX:18662645..18662646 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.428A>T (p.Asp143Val) single nucleotide variant not provided [RCV000085305] ChrX:18644524 [GRCh38]
ChrX:18662644 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.436G>A (p.Glu146Lys) single nucleotide variant not provided [RCV000085306] ChrX:18644516 [GRCh38]
ChrX:18662636 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.438G>C (p.Glu146Asp) single nucleotide variant not provided [RCV000085307] ChrX:18644514 [GRCh38]
ChrX:18662634 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.460C>T (p.Gln154Ter) single nucleotide variant Retinal dystrophy [RCV001075410]|not provided [RCV000085308] ChrX:18644492 [GRCh38]
ChrX:18662612 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.464A>G (p.Tyr155Cys) single nucleotide variant not provided [RCV000085309] ChrX:18644488 [GRCh38]
ChrX:18662608 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.472G>A (p.Asp158Asn) single nucleotide variant Retinal dystrophy [RCV001074795]|not provided [RCV000085310] ChrX:18644480 [GRCh38]
ChrX:18662600 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_000330.3(RS1):c.489G>A (p.Trp163Ter) single nucleotide variant not provided [RCV000085311] ChrX:18644463 [GRCh38]
ChrX:18662583 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.489G>T (p.Trp163Cys) single nucleotide variant not provided [RCV000085312] ChrX:18644463 [GRCh38]
ChrX:18662583 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.499A>T (p.Lys167Ter) single nucleotide variant not provided [RCV000085313] ChrX:18644453 [GRCh38]
ChrX:18662573 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.501G>C (p.Lys167Asn) single nucleotide variant not provided [RCV000085314] ChrX:18644451 [GRCh38]
ChrX:18662571 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.522+1G>A single nucleotide variant Juvenile retinoschisis [RCV000411037]|Retinal dystrophy [RCV001075780]|not provided [RCV000085320] ChrX:18644429 [GRCh38]
ChrX:18662549 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.522+1G>T single nucleotide variant not provided [RCV000085321] ChrX:18644429 [GRCh38]
ChrX:18662549 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.522+5G>A single nucleotide variant not provided [RCV000085322] ChrX:18644425 [GRCh38]
ChrX:18662545 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.523-2A>G single nucleotide variant Retinoschisis [RCV001003216]|not provided [RCV000085323] ChrX:18642158 [GRCh38]
ChrX:18660278 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.533G>A (p.Gly178Asp) single nucleotide variant not provided [RCV000085324] ChrX:18642146 [GRCh38]
ChrX:18660266 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.535A>G (p.Asn179Asp) single nucleotide variant not provided [RCV000085325] ChrX:18642144 [GRCh38]
ChrX:18660264 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.544C>T (p.Arg182Cys) single nucleotide variant Juvenile retinoschisis [RCV001353044]|not provided [RCV000085327] ChrX:18642135 [GRCh38]
ChrX:18660255 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_003159.2(CDKL5):c.2714-3877_2714-3876dup duplication not provided [RCV000085328] ChrX:18642129..18642130 [GRCh38]
ChrX:18660249..18660250 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.554C>T (p.Thr185Met) single nucleotide variant not provided [RCV000085329] ChrX:18642125 [GRCh38]
ChrX:18660245 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.574C>A (p.Pro192Thr) single nucleotide variant not provided [RCV000085330] ChrX:18642105 [GRCh38]
ChrX:18660225 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.574C>T (p.Pro192Ser) single nucleotide variant Juvenile retinoschisis [RCV000169568]|Retinal dystrophy [RCV001075730]|not provided [RCV000085331] ChrX:18642105 [GRCh38]
ChrX:18660225 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.575C>G (p.Pro192Arg) single nucleotide variant not provided [RCV000085332] ChrX:18642104 [GRCh38]
ChrX:18660224 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.576_577insT (p.Pro193fs) insertion not provided [RCV000085333] ChrX:18642102..18642103 [GRCh38]
ChrX:18660222..18660223 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.577C>T (p.Pro193Ser) single nucleotide variant not provided [RCV000085334] ChrX:18642102 [GRCh38]
ChrX:18660222 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.578C>T (p.Pro193Leu) single nucleotide variant Retinoschisis [RCV001003215]|not provided [RCV000085335] ChrX:18642101 [GRCh38]
ChrX:18660221 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.579dup (p.Ile194fs) duplication Retinal dystrophy [RCV001075094]|not provided [RCV000085336] ChrX:18642099..18642100 [GRCh38]
ChrX:18660219..18660220 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.589C>T (p.Arg197Cys) single nucleotide variant Retinal dystrophy [RCV001073323]|not provided [RCV000085337] ChrX:18642090 [GRCh38]
ChrX:18660210 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.590G>A (p.Arg197His) single nucleotide variant Juvenile retinoschisis [RCV000411288]|not provided [RCV000085338] ChrX:18642089 [GRCh38]
ChrX:18660209 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.590G>C (p.Arg197Pro) single nucleotide variant not provided [RCV000085339] ChrX:18642089 [GRCh38]
ChrX:18660209 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.596T>C (p.Ile199Thr) single nucleotide variant Retinal dystrophy [RCV001075416]|not provided [RCV000085340] ChrX:18642083 [GRCh38]
ChrX:18660203 [GRCh37]
ChrX:Xp22.13
pathogenic|uncertain significance|not provided
NM_000330.3(RS1):c.598C>T (p.Arg200Cys) single nucleotide variant Juvenile retinoschisis [RCV001353041]|Retinal dystrophy [RCV001074817]|not provided [RCV000085341] ChrX:18642081 [GRCh38]
ChrX:18660201 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.599G>A (p.Arg200His) single nucleotide variant not provided [RCV000085342] ChrX:18642080 [GRCh38]
ChrX:18660200 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.606C>T (p.Ile202=) single nucleotide variant not provided [RCV000085343] ChrX:18642073 [GRCh38]
ChrX:18660193 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.618G>A (p.Trp206Ter) single nucleotide variant not provided [RCV000085345] ChrX:18642061 [GRCh38]
ChrX:18660181 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.621C>G (p.His207Gln) single nucleotide variant not provided [RCV000085346] ChrX:18642058 [GRCh38]
ChrX:18660178 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.625C>G (p.Arg209Gly) single nucleotide variant not provided [RCV000085347] ChrX:18642054 [GRCh38]
ChrX:18660174 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) single nucleotide variant Juvenile retinoschisis [RCV000410285]|not provided [RCV000085348] ChrX:18642054 [GRCh38]
ChrX:18660174 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.626G>A (p.Arg209His) single nucleotide variant not provided [RCV000085349] ChrX:18642053 [GRCh38]
ChrX:18660173 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.631G>A (p.Ala211Thr) single nucleotide variant not provided [RCV000085350] ChrX:18642048 [GRCh38]
ChrX:18660168 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.637C>T (p.Arg213Trp) single nucleotide variant not provided [RCV000085351] ChrX:18642042 [GRCh38]
ChrX:18660162 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.638G>A (p.Arg213Gln) single nucleotide variant not provided [RCV000085352] ChrX:18642041 [GRCh38]
ChrX:18660161 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.639del (p.Met214fs) deletion not provided [RCV000085353] ChrX:18642040 [GRCh38]
ChrX:18660160 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.643G>A (p.Glu215Lys) single nucleotide variant not provided [RCV000085354] ChrX:18642036 [GRCh38]
ChrX:18660156 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.643G>C (p.Glu215Gln) single nucleotide variant not provided [RCV000085355] ChrX:18642036 [GRCh38]
ChrX:18660156 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.647T>C (p.Leu216Pro) single nucleotide variant Retinal dystrophy [RCV001075517]|not provided [RCV000085356] ChrX:18642032 [GRCh38]
ChrX:18660152 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.655T>C (p.Cys219Arg) single nucleotide variant Retinal dystrophy [RCV001074513]|not provided [RCV000085357] ChrX:18642024 [GRCh38]
ChrX:18660144 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_000330.3(RS1):c.655T>G (p.Cys219Gly) single nucleotide variant not provided [RCV000085358] ChrX:18642024 [GRCh38]
ChrX:18660144 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.4(RS1):c.658_*7del (p.Val220fs) deletion not provided [RCV000085359] ChrX:18641997..18642021 [GRCh38]
ChrX:18660117..18660141 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.2714-3983del deletion not provided [RCV000085360] ChrX:18642024 [GRCh38]
ChrX:18660144 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.666G>C (p.Lys222Asn) single nucleotide variant not provided [RCV000085361] ChrX:18642013 [GRCh38]
ChrX:18660133 [GRCh37]
ChrX:Xp22.13
not provided
NM_000330.3(RS1):c.286T>C (p.Trp96Arg) single nucleotide variant Juvenile retinoschisis [RCV000010564]|Retinal dystrophy [RCV001074398]|not provided [RCV000085262] ChrX:18647231 [GRCh38]
ChrX:18665351 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) single nucleotide variant Juvenile retinoschisis [RCV000010565]|Retinal dystrophy [RCV000210291]|not provided [RCV000085268] ChrX:18647213 [GRCh38]
ChrX:18665333 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.214G>A (p.Glu72Lys) single nucleotide variant Juvenile retinoschisis [RCV000010566]|Retinal dystrophy [RCV001075634]|not provided [RCV000085249] ChrX:18647303 [GRCh38]
ChrX:18665423 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.216G>C (p.Glu72Asp) single nucleotide variant Juvenile retinoschisis [RCV000010567]|not provided [RCV000085251] ChrX:18647301 [GRCh38]
ChrX:18665421 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.221G>T (p.Gly74Val) single nucleotide variant Juvenile retinoschisis [RCV000010568]|not provided [RCV000085254] ChrX:18647296 [GRCh38]
ChrX:18665416 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.325G>C (p.Gly109Arg) single nucleotide variant Juvenile retinoschisis [RCV000010569]|not provided [RCV000085274] ChrX:18647192 [GRCh38]
ChrX:18665312 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_003159.2(CDKL5):c.2714-3995A>G single nucleotide variant Juvenile retinoschisis [RCV000010571] ChrX:18642012 [GRCh38]
ChrX:18660132 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_000330.3(RS1):c.608C>T (p.Pro203Leu) single nucleotide variant Juvenile retinoschisis [RCV000010573]|Retinal dystrophy [RCV001074001]|Retinoschisis [RCV001003214]|not provided [RCV000085344] ChrX:18642071 [GRCh38]
ChrX:18660191 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_000330.3(RS1):c.305G>A (p.Arg102Gln) single nucleotide variant Juvenile retinoschisis [RCV000010574]|Retinal dystrophy [RCV001073575]|not provided [RCV000085269] ChrX:18647212 [GRCh38]
ChrX:18665332 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_000330.3(RS1):c.349C>T (p.Gln117Ter) single nucleotide variant Juvenile retinoschisis [RCV000058876] ChrX:18644603 [GRCh38]
ChrX:18662723 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.374T>G (p.Ile125Arg) single nucleotide variant not provided [RCV000058877] ChrX:18644578 [GRCh38]
ChrX:18662698 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.376G>C (p.Asp126His) single nucleotide variant not provided [RCV000058878] ChrX:18644576 [GRCh38]
ChrX:18662696 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2714-1487_2714-1440dup duplication not provided [RCV000058879] ChrX:18644517..18644518 [GRCh38]
ChrX:18662637..18662638 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_000330.3(RS1):c.579del (p.Ile194fs) deletion Retinal dystrophy [RCV001075848]|not provided [RCV000058880] ChrX:18642100 [GRCh38]
ChrX:18660220 [GRCh37]
ChrX:Xp22.13
pathogenic|uncertain significance
NM_003159.2(CDKL5):c.2714-3913GAT[3] microsatellite not provided [RCV000058881] ChrX:18642093..18642094 [GRCh38]
ChrX:18660213..18660214 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2714-3991dup duplication not provided [RCV000058882] ChrX:18642015..18642016 [GRCh38]
ChrX:18660135..18660136 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.145+17A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000611911]|not provided [RCV000124219]|not specified [RCV000169952] ChrX:18564539 [GRCh38]
ChrX:18582659 [GRCh37]
ChrX:Xp22.13
benign|likely benign|not provided
NM_001323289.2(CDKL5):c.283-12T>C single nucleotide variant not specified [RCV000124220] ChrX:18579836 [GRCh38]
ChrX:18597956 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000463106]|History of neurodevelopmental disorder [RCV000717123]|not specified [RCV000174314] ChrX:18604256 [GRCh38]
ChrX:18622376 [GRCh37]
ChrX:Xp22.13
benign|likely benign|uncertain significance
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001088078]|History of neurodevelopmental disorder [RCV000719669]|not provided [RCV000469724]|not specified [RCV000169951] ChrX:18604355 [GRCh38]
ChrX:18622475 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000459993]|History of neurodevelopmental disorder [RCV000715071]|not specified [RCV000145529] ChrX:18619962 [GRCh38]
ChrX:18638082 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000524566]|History of neurodevelopmental disorder [RCV000721012]|not specified [RCV000124225] ChrX:18625160 [GRCh38]
ChrX:18643280 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.2797+19A>G single nucleotide variant not specified [RCV000124226] ChrX:18646109 [GRCh38]
ChrX:18664229 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001085704]|History of neurodevelopmental disorder [RCV000717649]|not provided [RCV000711157]|not specified [RCV000124227] ChrX:18653445 [GRCh38]
ChrX:18671565 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.-174G>A single nucleotide variant not specified [RCV000603219] ChrX:18425684 [GRCh38]
ChrX:18443804 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) deletion Early infantile epileptic encephalopathy 2 [RCV001004700] ChrX:18598534..18598535 [GRCh38]
ChrX:18616654..18616655 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001323289.2(CDKL5):c.1891_1916del (p.Ile631fs) deletion not provided [RCV000174312] ChrX:18604811..18604836 [GRCh38]
ChrX:18622931..18622956 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter) single nucleotide variant not provided [RCV000174313] ChrX:18604076 [GRCh38]
ChrX:18622196 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133313] ChrX:18603963 [GRCh38]
ChrX:18622083 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133314] ChrX:18604003 [GRCh38]
ChrX:18622123 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) duplication Early infantile epileptic encephalopathy 2 [RCV000133315] ChrX:18604003..18604004 [GRCh38]
ChrX:18622123..18622124 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) single nucleotide variant Atypical Rett syndrome [RCV000133316]|Early infantile epileptic encephalopathy 2 [RCV000764869]|not provided [RCV000479280] ChrX:18604120 [GRCh38]
ChrX:18622240 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133318] ChrX:18604162 [GRCh38]
ChrX:18622282 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145514]|not provided [RCV000133319] ChrX:18564502 [GRCh38]
ChrX:18582622 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000868743]|not specified [RCV000133320] ChrX:18604202 [GRCh38]
ChrX:18622322 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs) duplication Atypical Rett syndrome [RCV000133321] ChrX:18604234..18604235 [GRCh38]
ChrX:18622354..18622355 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000469300]|History of neurodevelopmental disorder [RCV000721037]|not specified [RCV000145515] ChrX:18604254 [GRCh38]
ChrX:18622374 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser) single nucleotide variant not specified [RCV000133323] ChrX:18604306 [GRCh38]
ChrX:18622426 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133324] ChrX:18604324 [GRCh38]
ChrX:18622444 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) single nucleotide variant Autistic disorder of childhood onset [RCV000133325]|Early infantile epileptic encephalopathy 2 [RCV000862218] ChrX:18604447 [GRCh38]
ChrX:18622567 [GRCh37]
ChrX:Xp22.13
benign|uncertain significance|not provided
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) deletion Atypical Rett syndrome [RCV000133326]|Early infantile epileptic encephalopathy 2 [RCV000170008]|Early infantile epileptic encephalopathy 2 [RCV001068312] ChrX:18575368..18575371 [GRCh38]
ChrX:18593488..18593491 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) single nucleotide variant Atypical Rett syndrome [RCV000169916]|Early infantile epileptic encephalopathy 2 [RCV000170009]|Early infantile epileptic encephalopathy 2 [RCV001244788]|not provided [RCV000133327] ChrX:18604572 [GRCh38]
ChrX:18622692 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) single nucleotide variant Atypical Rett syndrome [RCV000169917]|Early infantile epileptic encephalopathy 2 [RCV000145521]|Early infantile epileptic encephalopathy 2 [RCV000694251]|not provided [RCV000133328] ChrX:18604599 [GRCh38]
ChrX:18622719 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) single nucleotide variant Atypical Rett syndrome [RCV000133329] ChrX:18604632 [GRCh38]
ChrX:18622752 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) single nucleotide variant Atypical Rett syndrome [RCV000170010]|Early infantile epileptic encephalopathy 2 [RCV000145523]|not provided [RCV000711154] ChrX:18575383 [GRCh38]
ChrX:18593503 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000926514]|Early infantile epileptic encephalopathy 2 [RCV000990485]|not specified [RCV000133331] ChrX:18604691 [GRCh38]
ChrX:18622811 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.183del (p.Met63fs) deletion Atypical Rett syndrome [RCV000170012]|Autistic disorder of childhood onset [RCV000170013]|Early infantile epileptic encephalopathy 2 [RCV000133332] ChrX:18575390 [GRCh38]
ChrX:18593510 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000659290]|Early infantile epileptic encephalopathy 2 [RCV000700107]|not provided [RCV000725189]|not specified [RCV000133333] ChrX:18604816 [GRCh38]
ChrX:18622936 [GRCh37]
ChrX:Xp22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter) duplication Atypical Rett syndrome [RCV000133334] ChrX:18604814..18604815 [GRCh38]
ChrX:18622934..18622935 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133335] ChrX:18575399 [GRCh38]
ChrX:18593519 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) single nucleotide variant not specified [RCV000133336] ChrX:18575402 [GRCh38]
ChrX:18593522 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145526]|not provided [RCV000133337] ChrX:18608820 [GRCh38]
ChrX:18626940 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145527]|Rett syndrome [RCV000133338] ChrX:18575407 [GRCh38]
ChrX:18593527 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133339] ChrX:18608881 [GRCh38]
ChrX:18627001 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) duplication Early infantile epileptic encephalopathy 2 [RCV000133340] ChrX:18608880..18608881 [GRCh38]
ChrX:18627000..18627001 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133342] ChrX:18609482 [GRCh38]
ChrX:18627602 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000169912]|not provided [RCV000133343] ChrX:18609570 [GRCh38]
ChrX:18627690 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) single nucleotide variant Atypical Rett syndrome [RCV000133344] ChrX:18575423 [GRCh38]
ChrX:18593543 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.216T>A (p.Ile72=) single nucleotide variant not specified [RCV000133345] ChrX:18575424 [GRCh38]
ChrX:18593544 [GRCh37]
ChrX:Xp22.13
benign|not provided
NM_001323289.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) microsatellite Early infantile epileptic encephalopathy 2 [RCV000133346] ChrX:18575433..18575436 [GRCh38]
ChrX:18593553..18593556 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) microsatellite Early infantile epileptic encephalopathy 2 [RCV000133347] ChrX:18619912..18619913 [GRCh38]
ChrX:18638032..18638033 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) deletion Atypical Rett syndrome [RCV000133348]|Early infantile epileptic encephalopathy 2 [RCV000694825] ChrX:18619932 [GRCh38]
ChrX:18638052 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133349] ChrX:18619952..18619956 [GRCh38]
ChrX:18638072..18638076 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2378T>C (p.Val793Ala) single nucleotide variant not specified [RCV000133350] ChrX:18625129 [GRCh38]
ChrX:18643249 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145530] ChrX:18625164 [GRCh38]
ChrX:18643284 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133353] ChrX:18628377 [GRCh38]
ChrX:18646497 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133354] ChrX:18628403 [GRCh38]
ChrX:18646523 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) deletion Early infantile epileptic encephalopathy 2 [RCV000145532]|not provided [RCV000133355] ChrX:18628443 [GRCh38]
ChrX:18646563 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145533]|History of neurodevelopmental disorder [RCV000719674] ChrX:18628467 [GRCh38]
ChrX:18646587 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) deletion Atypical Rett syndrome [RCV000169918]|Early infantile epileptic encephalopathy 2 [RCV000145535]|Early infantile epileptic encephalopathy 2 [RCV000229531]|not provided [RCV000133357] ChrX:18628509..18628510 [GRCh38]
ChrX:18646629..18646630 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001089711]|not specified [RCV000133358] ChrX:18646060 [GRCh38]
ChrX:18664180 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000475262]|not specified [RCV000133359] ChrX:18650466 [GRCh38]
ChrX:18668586 [GRCh37]
ChrX:Xp22.13
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) single nucleotide variant Atypical Rett syndrome [RCV000133360]|Early infantile epileptic encephalopathy 2 [RCV001052390]|not specified [RCV000493452] ChrX:18650520 [GRCh38]
ChrX:18668640 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_003159.2(CDKL5):c.2984T>G (p.Phe995Cys) single nucleotide variant not specified [RCV000133361] ChrX:18653435 [GRCh38]
ChrX:18671555 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_003159.2(CDKL5):c.3003C>G (p.His1001Gln) single nucleotide variant not provided [RCV000133362] ChrX:18653454 [GRCh38]
ChrX:18671574 [GRCh37]
ChrX:Xp22.13
not provided
NM_003159.2(CDKL5):c.3012G>T (p.Arg1004Ser) single nucleotide variant not specified [RCV000169911] ChrX:18653463 [GRCh38]
ChrX:18671583 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance|not provided
NM_003159.2(CDKL5):c.3084G>C (p.Thr1028=) single nucleotide variant not provided [RCV000133364] ChrX:18653535 [GRCh38]
ChrX:18671655 [GRCh37]
ChrX:Xp22.13
not provided
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) single nucleotide variant Atypical Rett syndrome [RCV000133365]|not provided [RCV000598592] ChrX:18579917 [GRCh38]
ChrX:18598037 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) single nucleotide variant Atypical Rett syndrome [RCV000169914]|Early infantile epileptic encephalopathy 2 [RCV001071921]|not provided [RCV000133366] ChrX:18579945 [GRCh38]
ChrX:18598065 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|uncertain significance|not provided
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133367] ChrX:18507133 [GRCh38]
ChrX:18525253 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000169919]|not provided [RCV000133368] ChrX:18579965 [GRCh38]
ChrX:18598085 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133369] ChrX:18581912 [GRCh38]
ChrX:18600032 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145541]|not provided [RCV000133371] ChrX:18584312 [GRCh38]
ChrX:18602432 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) single nucleotide variant Atypical Rett syndrome [RCV000169986]|Early infantile epileptic encephalopathy 2 [RCV000169915]|Early infantile epileptic encephalopathy 2 [RCV000544362]|Intellectual disability [RCV001260657]|not provided [RCV000133373] ChrX:18584331 [GRCh38]
ChrX:18602451 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|not provided
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133375] ChrX:18584338 [GRCh38]
ChrX:18602458 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) duplication Early infantile epileptic encephalopathy 2 [RCV000192825]|not provided [RCV000133376] ChrX:18584347..18584348 [GRCh38]
ChrX:18602467..18602468 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145543]|not provided [RCV001090792] ChrX:18587977 [GRCh38]
ChrX:18606097 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145544]|Early infantile epileptic encephalopathy 2 [RCV000812193]|Epileptic encephalopathy [RCV000416982]|not provided [RCV000431821] ChrX:18587986 [GRCh38]
ChrX:18606106 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133379] ChrX:18507154 [GRCh38]
ChrX:18525274 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter) single nucleotide variant Atypical Rett syndrome [RCV000133380] ChrX:18588006 [GRCh38]
ChrX:18606126 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133381]|Early infantile epileptic encephalopathy 2 [RCV000640488] ChrX:18588058 [GRCh38]
ChrX:18606178 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_003159.2(CDKL5):c.65dupG duplication Early infantile epileptic encephalopathy 2 [RCV000193845]|not provided [RCV000133382] ChrX:18510818..18510819 [GRCh38]
ChrX:18528938..18528939 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133383] ChrX:18588079 [GRCh38]
ChrX:18606199 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133384] ChrX:18595403..18595404 [GRCh38]
ChrX:18613523..18613524 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs) deletion Atypical Rett syndrome [RCV000133385] ChrX:18598472..18598481 [GRCh38]
ChrX:18616592..18616601 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145547]|not provided [RCV000133386] ChrX:18598491 [GRCh38]
ChrX:18616611 [GRCh37]
ChrX:Xp22.13
likely pathogenic|not provided
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) duplication Early infantile epileptic encephalopathy 2 [RCV000133388] ChrX:18598501..18598502 [GRCh38]
ChrX:18616621..18616622 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) deletion Early infantile epileptic encephalopathy 2 [RCV000133390] ChrX:18598518 [GRCh38]
ChrX:18616638 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.900_901GA[3] (p.Leu302fs) microsatellite Angelman syndrome [RCV000133391]|Early infantile epileptic encephalopathy 2 [RCV000012261] ChrX:18598534..18598535 [GRCh38]
ChrX:18616654..18616655 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000133392] ChrX:18598540 [GRCh38]
ChrX:18616660 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) duplication Early infantile epileptic encephalopathy 2 [RCV000133393] ChrX:18598599..18598600 [GRCh38]
ChrX:18616719..18616720 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) single nucleotide variant Inborn genetic diseases [RCV000190660] ChrX:18584313 [GRCh38]
ChrX:18602433 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000330.4(RS1):c.185-3090_185-3089insT insertion Early infantile epileptic encephalopathy 2 [RCV001332234] ChrX:18650421..18650422 [GRCh38]
ChrX:18668541..18668542 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.320T>A (p.Val107Asp) single nucleotide variant not provided [RCV000144738] ChrX:18579885 [GRCh38]
ChrX:18598005 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.351T>A (p.Tyr117Ter) single nucleotide variant not provided [RCV000144739] ChrX:18579916 [GRCh38]
ChrX:18598036 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.356T>G (p.Leu119Arg) single nucleotide variant not provided [RCV000144740] ChrX:18579921 [GRCh38]
ChrX:18598041 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.404-3C>A single nucleotide variant not provided [RCV000144741] ChrX:18581888 [GRCh38]
ChrX:18600008 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.404-2A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001215542]|not provided [RCV000144742] ChrX:18581889 [GRCh38]
ChrX:18600009 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu) single nucleotide variant not provided [RCV000144743] ChrX:18581900 [GRCh38]
ChrX:18600020 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.421C>T (p.Leu141Phe) single nucleotide variant not provided [RCV000144744] ChrX:18581908 [GRCh38]
ChrX:18600028 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.449A>G (p.Lys150Arg) single nucleotide variant not provided [RCV000144745] ChrX:18581936 [GRCh38]
ChrX:18600056 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.526T>A (p.Trp176Arg) single nucleotide variant not provided [RCV000144746] ChrX:18584325 [GRCh38]
ChrX:18602445 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.542A>C (p.Glu181Ala) single nucleotide variant not provided [RCV000144747] ChrX:18584341 [GRCh38]
ChrX:18602461 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.577G>A (p.Asp193Asn) single nucleotide variant not provided [RCV000144748] ChrX:18587976 [GRCh38]
ChrX:18606096 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000990480]|not provided [RCV000144749] ChrX:18588001 [GRCh38]
ChrX:18606121 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_001323289.2(CDKL5):c.626C>G (p.Pro209Arg) single nucleotide variant not provided [RCV000144750] ChrX:18588025 [GRCh38]
ChrX:18606145 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.700C>T (p.Gln234Ter) single nucleotide variant not provided [RCV000144751] ChrX:18588099 [GRCh38]
ChrX:18606219 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.*15C>T single nucleotide variant not specified [RCV000133312] ChrX:18653559 [GRCh38]
ChrX:18671679 [GRCh37]
ChrX:Xp22.13
uncertain significance|not provided
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) indel Atypical Rett syndrome [RCV000133341] ChrX:18608911..18608912 [GRCh38]
ChrX:18627031..18627032 [GRCh37]
ChrX:Xp22.13
pathogenic|not provided
NM_001323289.2(CDKL5):c.1345_1363del (p.Glu449fs) deletion not provided [RCV000144784] ChrX:18604268..18604286 [GRCh38]
ChrX:18622388..18622406 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.121A>T (p.Ile41Phe) single nucleotide variant not provided [RCV000144733] ChrX:18564498 [GRCh38]
ChrX:18582618 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) single nucleotide variant Atypical Rett syndrome [RCV000169981]|not provided [RCV000144734] ChrX:18575419 [GRCh38]
ChrX:18593539 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_001323289.2(CDKL5):c.220G>T (p.Glu74Ter) single nucleotide variant not provided [RCV000144735] ChrX:18575428 [GRCh38]
ChrX:18593548 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.250A>T (p.Lys84Ter) single nucleotide variant not provided [RCV000144736] ChrX:18575458 [GRCh38]
ChrX:18593578 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.282+2T>G single nucleotide variant not provided [RCV000144737] ChrX:18575492 [GRCh38]
ChrX:18593612 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001312479] ChrX:18613235 [GRCh38]
ChrX:18631355 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001303322] ChrX:18587992 [GRCh38]
ChrX:18606112 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) single nucleotide variant not provided [RCV000173770] ChrX:18595403 [GRCh38]
ChrX:18613523 [GRCh37]
ChrX:Xp22.13
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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000764870]|not provided [RCV000174879] ChrX:18613242 [GRCh38]
ChrX:18631362 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.248del (p.Gly83fs) deletion not provided [RCV000144780] ChrX:18575453 [GRCh38]
ChrX:18593573 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.282+4del deletion not provided [RCV000144781] ChrX:18575493 [GRCh38]
ChrX:18593613 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) deletion not provided [RCV000144782] ChrX:18584345..18584348 [GRCh38]
ChrX:18602465..18602468 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.808dup (p.Leu270fs) duplication not provided [RCV000144783] ChrX:18595410..18595411 [GRCh38]
ChrX:18613530..18613531 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) deletion not provided [RCV000766721]|not specified [RCV000169974] ChrX:18604375..18604380 [GRCh38]
ChrX:18622495..18622500 [GRCh37]
ChrX:Xp22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) duplication not provided [RCV000144786] ChrX:18604594..18604595 [GRCh38]
ChrX:18622714..18622715 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1795dup (p.Thr599fs) duplication not provided [RCV000144787] ChrX:18604718..18604719 [GRCh38]
ChrX:18622838..18622839 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs) duplication not provided [RCV000144788] ChrX:18604808..18604809 [GRCh38]
ChrX:18622928..18622929 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1909del (p.Ala637fs) deletion not provided [RCV000144789] ChrX:18604833 [GRCh38]
ChrX:18622953 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer) deletion not provided [RCV000144790] ChrX:18609565..18609566 [GRCh38]
ChrX:18627685..18627686 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2203_2204AG[1] (p.Arg735fs) microsatellite not provided [RCV000144791] ChrX:18613202..18613203 [GRCh38]
ChrX:18631322..18631323 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2254dup (p.Arg752fs) duplication not provided [RCV000144792] ChrX:18613248..18613249 [GRCh38]
ChrX:18631368..18631369 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2323_2326del (p.Glu775fs) deletion not provided [RCV000144793] ChrX:18619912..18619915 [GRCh38]
ChrX:18638032..18638035 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) deletion not provided [RCV000144794] ChrX:18619948..18619951 [GRCh38]
ChrX:18638068..18638071 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs) deletion not provided [RCV000144795] ChrX:18625217 [GRCh38]
ChrX:18643337 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2549del (p.Asn850fs) deletion not provided [RCV000144796] ChrX:18628421 [GRCh38]
ChrX:18646541 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs) duplication not provided [RCV000144797] ChrX:18628480..18628481 [GRCh38]
ChrX:18646600..18646601 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.73G>A (p.Gly25Arg) single nucleotide variant not provided [RCV000144802] ChrX:18510828 [GRCh38]
ChrX:18528948 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.99+5G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170059]|not provided [RCV000144803] ChrX:18510859 [GRCh38]
ChrX:18528979 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1670C>G (p.Ser557Ter) single nucleotide variant not provided [RCV000144819] ChrX:18604594 [GRCh38]
ChrX:18622714 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.826-1G>C single nucleotide variant not provided [RCV000144825] ChrX:18598461 [GRCh38]
ChrX:18616581 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) single nucleotide variant not provided [RCV000144826] ChrX:18603975 [GRCh38]
ChrX:18622095 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.1324C>T (p.Gln442Ter) single nucleotide variant not provided [RCV000144827] ChrX:18604248 [GRCh38]
ChrX:18622368 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys) single nucleotide variant not provided [RCV000144828] ChrX:18604424 [GRCh38]
ChrX:18622544 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001206862] ChrX:18604560 [GRCh38]
ChrX:18622680 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000866522]|not specified [RCV000144830] ChrX:18604645 [GRCh38]
ChrX:18622765 [GRCh37]
ChrX:Xp22.13
benign|likely benign|uncertain significance
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001078547]|not provided [RCV000144831] ChrX:18604742 [GRCh38]
ChrX:18622862 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001323289.2(CDKL5):c.1944+2T>G single nucleotide variant not provided [RCV000144832] ChrX:18604870 [GRCh38]
ChrX:18622990 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2555C>G (p.Pro852Arg) single nucleotide variant not provided [RCV000144833] ChrX:18628429 [GRCh38]
ChrX:18646549 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2684C>T (p.Pro895Leu) single nucleotide variant not provided [RCV000144834] ChrX:18628558 [GRCh38]
ChrX:18646678 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV001053868]|not provided [RCV000144835] ChrX:18628429 [GRCh38]
ChrX:18646549 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145534]|not provided [RCV000144836] ChrX:18628470 [GRCh38]
ChrX:18646590 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2671C>T (p.Gln891Ter) single nucleotide variant not provided [RCV000144837] ChrX:18628545 [GRCh38]
ChrX:18646665 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000764871]|Early infantile epileptic encephalopathy 2 [RCV001202850]|not specified [RCV000144838] ChrX:18646032 [GRCh38]
ChrX:18664152 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000544730]|not specified [RCV000145539] ChrX:18650539 [GRCh38]
ChrX:18668659 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.3008T>C (p.Met1003Thr) single nucleotide variant not specified [RCV000145540] ChrX:18653459 [GRCh38]
ChrX:18671579 [GRCh37]
ChrX:Xp22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.3042C>A (p.Asn1014Lys) single nucleotide variant not provided [RCV000144841] ChrX:18653493 [GRCh38]
ChrX:18671613 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
NM_003159.2(CDKL5):c.-265C>G single nucleotide variant not specified [RCV000145511] ChrX:18425593 [GRCh38]
ChrX:18443713 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.-391G>T single nucleotide variant not specified [RCV000145512] ChrX:18425467 [GRCh38]
ChrX:18443587 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) single nucleotide variant not specified [RCV000145513] ChrX:18603995 [GRCh38]
ChrX:18622115 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) deletion Early infantile epileptic encephalopathy 2 [RCV000145517] ChrX:18604269..18604270 [GRCh38]
ChrX:18622389..18622390 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) single nucleotide variant not specified [RCV000145518] ChrX:18604324 [GRCh38]
ChrX:18622444 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001323289.2(CDKL5):c.146-1G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145520]|not provided [RCV001090790] ChrX:18575353 [GRCh38]
ChrX:18593473 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145522] ChrX:18604602 [GRCh38]
ChrX:18622722 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) duplication Early infantile epileptic encephalopathy 2 [RCV000145524] ChrX:18604719..18604720 [GRCh38]
ChrX:18622839..18622840 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145531] ChrX:18575456 [GRCh38]
ChrX:18593576 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145537] ChrX:18650432 [GRCh38]
ChrX:18668552 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.283-13A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145538]|not specified [RCV000607112] ChrX:18579835 [GRCh38]
ChrX:18597955 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145542] ChrX:18584325 [GRCh38]
ChrX:18602445 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145545]|Global developmental delay [RCV000626839] ChrX:18588021 [GRCh38]
ChrX:18606141 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145546] ChrX:18507158 [GRCh38]
ChrX:18525278 [GRCh37]
ChrX:Xp22.13
likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000145549] ChrX:18598605 [GRCh38]
ChrX:18616725 [GRCh37]
ChrX:Xp22.13
uncertain significance
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 Xp22.33-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
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 Xp22.13(chrX:18560628-18588106)x2 copy number gain See cases [RCV000134813] ChrX:18560628..18588106 [GRCh38]
ChrX:18578748..18606226 [GRCh37]
ChrX:18488669..18516147 [NCBI36]
ChrX:Xp22.13
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 Xp22.13(chrX:18644057-18672058)x0 copy number loss See cases [RCV000135987] ChrX:18644057..18672058 [GRCh38]
ChrX:18662177..18690178 [GRCh37]
ChrX:18572098..18600099 [NCBI36]
ChrX:Xp22.13
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-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 Xp22.33-11.22(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 Xp22.13(chrX:18644112-18804034)x3 copy number gain See cases [RCV000136634] ChrX:18644112..18804034 [GRCh38]
ChrX:18662232..18822152 [GRCh37]
ChrX:18572153..18732073 [NCBI36]
ChrX:Xp22.13
uncertain significance
GRCh38/hg38 Xp22.13(chrX:18644112-18804034)x2 copy number gain See cases [RCV000136635] ChrX:18644112..18804034 [GRCh38]
ChrX:18662232..18822152 [GRCh37]
ChrX:18572153..18732073 [NCBI36]
ChrX:Xp22.13
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(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 Xp22.13(chrX:18564194-18595430)x1 copy number loss See cases [RCV000137804] ChrX:18564194..18595430 [GRCh38]
ChrX:18582314..18613550 [GRCh37]
ChrX:18492235..18523471 [NCBI36]
ChrX:Xp22.13
pathogenic
GRCh38/hg38 Xp22.13(chrX:18570473-18651053)x1 copy number loss See cases [RCV000138681] ChrX:18570473..18651053 [GRCh38]
ChrX:18588593..18669173 [GRCh37]
ChrX:18498514..18579094 [NCBI36]
ChrX:Xp22.13
likely pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.13(chrX:18644112-18676976)x1 copy number loss See cases [RCV000138345] ChrX:18644112..18676976 [GRCh38]
ChrX:18662232..18695095 [GRCh37]
ChrX:18572153..18605016 [NCBI36]
ChrX:Xp22.13
pathogenic|likely 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 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-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-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 Xp22.33-11.21(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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely 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_001323289.2(CDKL5):c.2265A>T (p.Ala755=) single nucleotide variant not provided [RCV000152958] ChrX:18613264 [GRCh38]
ChrX:18631384 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) single nucleotide variant not provided [RCV000723893]|not specified [RCV000152959] ChrX:18625139 [GRCh38]
ChrX:18643259 [GRCh37]
ChrX:Xp22.13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000330.3(RS1):c.184+3171C>T single nucleotide variant not provided [RCV000152960] ChrX:18653482 [GRCh38]
ChrX:18671602 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) single nucleotide variant not specified [RCV000192702] ChrX:18613214 [GRCh38]
ChrX:18631334 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_003159.2(CDKL5):c.*130_*131delinsAT indel not specified [RCV000169950] ChrX:18653674..18653675 [GRCh38]
ChrX:18671794..18671795 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.145+4_145+5AT[15] microsatellite not specified [RCV000169954] ChrX:18564526..18564527 [GRCh38]
ChrX:18582646..18582647 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.145+4_145+5AT[13] microsatellite not specified [RCV000169955] ChrX:18564526..18564527 [GRCh38]
ChrX:18582646..18582647 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.2308C>A (p.Gln770Lys) single nucleotide variant not specified [RCV000169957] ChrX:18619898 [GRCh38]
ChrX:18638018 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000468230]|Early infantile epileptic encephalopathy 2 [RCV000990487]|not specified [RCV000169960] ChrX:18625140 [GRCh38]
ChrX:18643260 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000539050]|not specified [RCV000169961] ChrX:18628547 [GRCh38]
ChrX:18646667 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003159.2(CDKL5):c.2928G>A (p.Pro976=) single nucleotide variant not specified [RCV000169963] ChrX:18650540 [GRCh38]
ChrX:18668660 [GRCh37]
ChrX:Xp22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) single nucleotide variant not specified [RCV000169964] ChrX:18579898 [GRCh38]
ChrX:18598018 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.404-53T>C single nucleotide variant not specified [RCV000169965] ChrX:18581838 [GRCh38]
ChrX:18599958 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.405T>C (p.Asp135=) single nucleotide variant not specified [RCV000169966] ChrX:18581892 [GRCh38]
ChrX:18600012 [GRCh37]
ChrX:Xp22.13
benign
NM_003159.2(CDKL5):c.-426C>G single nucleotide variant not specified [RCV000169967] ChrX:18425432 [GRCh38]
ChrX:18443552 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) single nucleotide variant not specified [RCV000169970] ChrX:18587972 [GRCh38]
ChrX:18606092 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.64+26G>A single nucleotide variant not specified [RCV000169971] ChrX:18507186 [GRCh38]
ChrX:18525306 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.99+34A>G single nucleotide variant not specified [RCV000169973] ChrX:18510888 [GRCh38]
ChrX:18529008 [GRCh37]
ChrX:Xp22.13
benign
NM_001323289.2(CDKL5):c.403+27A>G single nucleotide variant not specified [RCV000169977] ChrX:18579995 [GRCh38]
ChrX:18598115 [GRCh37]
ChrX:Xp22.13
likely benign
NM_001323289.2(CDKL5):c.978-49_978-41del deletion not provided [RCV000144144]|not specified [RCV000169980] ChrX:18603852..18603860 [GRCh38]
ChrX:18621972..18621980 [GRCh37]
ChrX:Xp22.13
likely benign|not provided
NM_001323289.2(CDKL5):c.214_216del (p.Ile72del) deletion not provided [RCV000169982] ChrX:18575422..18575424 [GRCh38]
ChrX:18593542..18593544 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_003159.2(CDKL5):c.-253_-163+?del deletion Early infantile epileptic encephalopathy 2 [RCV000169984] ChrX:18425605..18425695 [GRCh38]
ChrX:18443725..18443815 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000169985] ChrX:18584272 [GRCh38]
ChrX:18602392 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) single nucleotide variant not provided [RCV000169987] ChrX:18507155 [GRCh38]
ChrX:18525275 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) single nucleotide variant Atypical Rett syndrome [RCV000169988]|Inborn genetic diseases [RCV000622992] ChrX:18588055 [GRCh38]
ChrX:18606175 [GRCh37]
ChrX:Xp22.13
likely pathogenic
NM_003159.2(CDKL5):c.100-?_145+?del deletion Early infantile epileptic encephalopathy 2 [RCV000169989]   pathogenic
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) deletion Early infantile epileptic encephalopathy 2 [RCV000169991] ChrX:18603932..18603953 [GRCh38]
ChrX:18622052..18622073 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1071del (p.Asp357fs) deletion not provided [RCV000169992] ChrX:18603995 [GRCh38]
ChrX:18622115 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) single nucleotide variant Atypical Rett syndrome [RCV000169993] ChrX:18604014 [GRCh38]
ChrX:18622134 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1245_1246AG[1] (p.Glu416fs) microsatellite Epileptic encephalopathy [RCV000416945]|Inborn genetic diseases [RCV000624117]|not provided [RCV000169994] ChrX:18604169..18604170 [GRCh38]
ChrX:18622289..18622290 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) deletion Atypical Rett syndrome [RCV000169995] ChrX:18604265 [GRCh38]
ChrX:18622385 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) single nucleotide variant Atypical Rett syndrome [RCV000169996] ChrX:18604299 [GRCh38]
ChrX:18622419 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) duplication Atypical Rett syndrome [RCV000169997] ChrX:18604339..18604340 [GRCh38]
ChrX:18622459..18622460 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1432_1433insT (p.Arg478fs) insertion not provided [RCV000169998] ChrX:18604356..18604357 [GRCh38]
ChrX:18622476..18622477 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.146-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170000] ChrX:18575354..18653629 [GRCh38]
ChrX:18593474..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) deletion Atypical Rett syndrome [RCV000170001] ChrX:18604473 [GRCh38]
ChrX:18622593 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-162-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170002] ChrX:18506935..18653629 [GRCh38]
ChrX:18525055..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-162-?_145+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170003]   pathogenic
NM_003159.2(CDKL5):c.-162-?_64+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170004]   pathogenic|likely pathogenic
NM_003159.2(CDKL5):c.-162-?_99+?del deletion Atypical Rett syndrome [RCV000170005]|Early infantile epileptic encephalopathy 2 [RCV000170006]   pathogenic
NM_001323289.2(CDKL5):c.-162-2A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170007] ChrX:18506933 [GRCh38]
ChrX:18525053 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) duplication Early infantile epileptic encephalopathy 2 [RCV000170011] ChrX:18604706..18604707 [GRCh38]
ChrX:18622826..18622827 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) deletion Atypical Rett syndrome [RCV000170014] ChrX:18604778 [GRCh38]
ChrX:18622898 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2046+1G>A single nucleotide variant Atypical Rett syndrome [RCV000170015]|Early infantile epileptic encephalopathy 2 [RCV000536060] ChrX:18608913 [GRCh38]
ChrX:18627033 [GRCh37]
ChrX:Xp22.13
pathogenic|likely pathogenic
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) deletion Early infantile epileptic encephalopathy 2 [RCV000170017] ChrX:18575415..18575421 [GRCh38]
ChrX:18593535..18593541 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2103_2104AC[1] (p.His702fs) microsatellite Early infantile epileptic encephalopathy 2 [RCV000170018] ChrX:18609521..18609522 [GRCh38]
ChrX:18627641..18627642 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2277-2A>G single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170019] ChrX:18619865 [GRCh38]
ChrX:18637985 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2377-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170022] ChrX:18625128..18653629 [GRCh38]
ChrX:18643248..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170023] ChrX:18625245 [GRCh38]
ChrX:18643365 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2497-?_*85del deletion Early infantile epileptic encephalopathy 2 [RCV000170024] ChrX:18628371..18653629 [GRCh38]
ChrX:18646491..18671749 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del deletion Early infantile epileptic encephalopathy 2 [RCV000170025]   pathogenic
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del deletion Atypical Rett syndrome [RCV000170026] ChrX:18425605..18478967 [GRCh38]
ChrX:18443725..18497087 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-253_2276+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170027] ChrX:18425605..18613275 [GRCh38]
ChrX:18443725..18631395 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-253_64+?del deletion Atypical Rett syndrome [RCV000170028] ChrX:18425605..18507160 [GRCh38]
ChrX:18443725..18525280 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-253_825+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170029] ChrX:18425605..18595428 [GRCh38]
ChrX:18443725..18613548 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-253_977+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170030] ChrX:18425605..18598613 [GRCh38]
ChrX:18443725..18616733 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.-253_99+?del deletion Atypical Rett syndrome [RCV000170032]|Early infantile epileptic encephalopathy 2 [RCV000170031] ChrX:18425605..18510854 [GRCh38]
ChrX:18443725..18528974 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2531dup (p.His844fs) duplication not provided [RCV000170033] ChrX:18628404..18628405 [GRCh38]
ChrX:18646524..18646525 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) single nucleotide variant Atypical Rett syndrome [RCV000170034] ChrX:18628578 [GRCh38]
ChrX:18646698 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) insertion Early infantile epileptic encephalopathy 2 [RCV000170035] ChrX:18575483..18575484 [GRCh38]
ChrX:18593603..18593604 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.283-3_290del deletion Atypical Rett syndrome [RCV000170037]|Early infantile epileptic encephalopathy 2 [RCV000170036] ChrX:18579844..18579854 [GRCh38]
ChrX:18597964..18597974 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.403+1G>A single nucleotide variant Atypical Rett syndrome [RCV000170038] ChrX:18579969 [GRCh38]
ChrX:18598089 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.2714-47C>T single nucleotide variant Atypical Rett syndrome [RCV000170062] ChrX:18645960 [GRCh38]
ChrX:18664080 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.-189C>T single nucleotide variant Atypical Rett syndrome [RCV000170061] ChrX:18425669 [GRCh38]
ChrX:18443789 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) single nucleotide variant Atypical Rett syndrome [RCV000170060] ChrX:18604190 [GRCh38]
ChrX:18622310 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001323289.2(CDKL5):c.942del (p.Lys314fs) deletion Atypical Rett syndrome [RCV000170056] ChrX:18598575 [GRCh38]
ChrX:18616695 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170055] ChrX:18510846 [GRCh38]
ChrX:18528966 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.745-?_825+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170054]   pathogenic|likely pathogenic
NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) duplication Atypical Rett syndrome [RCV000170053] ChrX:18588058..18588059 [GRCh38]
ChrX:18606178..18606179 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.65-?_99+?del deletion Early infantile epileptic encephalopathy 2 [RCV000170052]   pathogenic
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) single nucleotide variant Atypical Rett syndrome [RCV000170050] ChrX:18584327 [GRCh38]
ChrX:18602447 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170049] ChrX:18584325 [GRCh38]
ChrX:18602445 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) duplication Atypical Rett syndrome [RCV000170048] ChrX:18584308..18584309 [GRCh38]
ChrX:18602428..18602429 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.504_505CA[1] (p.Thr169fs) microsatellite Early infantile epileptic encephalopathy 2 [RCV000170047] ChrX:18584302..18584303 [GRCh38]
ChrX:18602422..18602423 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.464-1G>A single nucleotide variant Atypical Rett syndrome [RCV000170045] ChrX:18584262 [GRCh38]
ChrX:18602382 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170043] ChrX:18581945 [GRCh38]
ChrX:18600065 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.404-1G>A single nucleotide variant Early infantile epileptic encephalopathy 2 [RCV000170041] ChrX:18581890 [GRCh38]
ChrX:18600010 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_001323289.2(CDKL5):c.403+540_554+61del deletion Early infantile epileptic encephalopathy 2 [RCV000170040] ChrX:18580505..18584411 [GRCh38]
ChrX:18598625..18602531 [GRCh37]
ChrX:Xp22.13
pathogenic
NM_003159.2(CDKL5):c.404-?_554+?del deletion Atypical Rett syndrome [RCV000170039]   pathogenic
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) indel Early infantile epileptic encephalopathy 2 [RCV000170064] ChrX:18588078..18588090 [GRCh38]
ChrX:18606198..18606210 [GRCh37]
ChrX:Xp22.13
likely benign|uncertain significance
NM_003159.2(CDKL5):c.-440G>T single nucleotide variant