CASK (calcium/calmodulin dependent serine protein kinase) - Rat Genome Database

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Gene: CASK (calcium/calmodulin dependent serine protein kinase) Homo sapiens
Analyze
Symbol: CASK
Name: calcium/calmodulin dependent serine protein kinase
RGD ID: 733678
HGNC Page HGNC
Description: Exhibits protein serine/threonine kinase activity. Involved in several processes, including negative regulation of cell-matrix adhesion; negative regulation of keratinocyte proliferation; and negative regulation of wound healing. Localizes to several cellular components, including basement membrane; cell-cell junction; and nuclear lumen. Implicated in FG syndrome and syndromic X-linked intellectual disability Najm type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAGH39; calcium/calmodulin-dependent serin protein kinase; calcium/calmodulin-dependent serine protein kinase; calcium/calmodulin-dependent serine protein kinase (MAGUK family); calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; CAMGUK; CMG; FGS4; FLJ22219; FLJ31914; hCASK; LIN2; MICPCH; MRXSNA; peripheral plasma membrane protein CASK; protein lin-2 homolog; TNRC8; trinucleotide repeat containing 8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CASKP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,514,934 - 41,923,554 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,514,934 - 41,923,517 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,514,934 - 41,923,645 (-)EnsemblGRCh38hg38GRCh38
GRCh38X41,514,934 - 41,923,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,374,187 - 41,782,807 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,264,287 - 41,667,212 (-)NCBINCBI36hg18NCBI36
Build 34X41,135,596 - 41,538,522NCBI
CeleraX45,516,432 - 45,924,508 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,105,639 - 39,513,256 (-)NCBIHuRef
CHM1_1X41,406,782 - 41,814,790 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormally large globe  (IAGP)
Absent speech  (IAGP)
Absent thumbnail  (IAGP)
Anisocytosis  (IAGP)
Anteverted nares  (IAGP)
Atonic seizure  (IAGP)
Autistic behavior  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Broad phalanx of the toes  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Choreoathetosis  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Decreased body weight  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated fourth ventricle  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epicanthus  (IAGP)
Episodic ataxia  (IAGP)
Failure to thrive  (IAGP)
Fava bean-induced hemolytic anemia  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Heinz bodies  (IAGP)
Hemoglobinuria  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Leukocytosis  (IAGP)
Long philtrum  (IAGP)
Macrogyria  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Muscle weakness  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic nerve hypoplasia  (IAGP)
Oval face  (IAGP)
Pachygyria  (IAGP)
Pallor  (IAGP)
Poikilocytosis  (IAGP)
Poor head control  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Progressive microcephaly  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Prostate cancer  (IAGP)
Renal dysplasia  (IAGP)
Reticulocytosis  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short finger  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Sloping forehead  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Unconjugated hyperbilirubinemia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8786425   PMID:9225980   PMID:9546224   PMID:9660868   PMID:9660869   PMID:9753324   PMID:9822620   PMID:9952408   PMID:10455105   PMID:10460248   PMID:10749215   PMID:10856295  
PMID:10993877   PMID:11003712   PMID:11036064   PMID:11120739   PMID:11356864   PMID:11377421   PMID:11679592   PMID:11742811   PMID:11880184   PMID:12006486   PMID:12040031   PMID:12093160  
PMID:12110687   PMID:12151521   PMID:12151522   PMID:12202822   PMID:12351654   PMID:12477932   PMID:12511555   PMID:12522552   PMID:12641734   PMID:12676536   PMID:14627983   PMID:14702039  
PMID:14960569   PMID:15024025   PMID:15066269   PMID:15123239   PMID:15231748   PMID:15331416   PMID:15673434   PMID:15694377   PMID:15729360   PMID:16637659   PMID:16688213   PMID:16842202  
PMID:17287346   PMID:18423203   PMID:18629876   PMID:18664494   PMID:19019082   PMID:19125693   PMID:19165920   PMID:19322201   PMID:19523119   PMID:19615732   PMID:19736351   PMID:19781660  
PMID:19847910   PMID:20006588   PMID:20029458   PMID:20623620   PMID:21423176   PMID:21590270   PMID:21735175   PMID:21763699   PMID:21855798   PMID:21954287   PMID:21988832   PMID:22119785  
PMID:22389404   PMID:22452838   PMID:22709267   PMID:23165780   PMID:23406872   PMID:23443559   PMID:23542924   PMID:23543616   PMID:23600800   PMID:23602568   PMID:23864692   PMID:24278995  
PMID:24366813   PMID:24722188   PMID:24927672   PMID:25373785   PMID:25416956   PMID:25852190   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:27173948  
PMID:27364017   PMID:27720444   PMID:27880917   PMID:28139025   PMID:28319085   PMID:28481730   PMID:28514442   PMID:28611215   PMID:28675297   PMID:28783747   PMID:28986522   PMID:29212245  
PMID:29258560   PMID:29395067   PMID:29426960   PMID:29507755   PMID:29568061   PMID:29691940   PMID:29892012   PMID:29997244   PMID:30217970   PMID:30344098   PMID:30549415   PMID:30639242  
PMID:31343991   PMID:31356645   PMID:31527615   PMID:31995728   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32780723   PMID:32877691   PMID:33001583   PMID:33113509  


Genomics

Comparative Map Data
CASK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,514,934 - 41,923,554 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,514,934 - 41,923,517 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,514,934 - 41,923,645 (-)EnsemblGRCh38hg38GRCh38
GRCh38X41,514,934 - 41,923,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,374,187 - 41,782,807 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,264,287 - 41,667,212 (-)NCBINCBI36hg18NCBI36
Build 34X41,135,596 - 41,538,522NCBI
CeleraX45,516,432 - 45,924,508 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,105,639 - 39,513,256 (-)NCBIHuRef
CHM1_1X41,406,782 - 41,814,790 (-)NCBICHM1_1
Cask
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X13,383,319 - 13,713,020 (-)NCBIGRCm39mm39
GRCm39 EnsemblX13,383,319 - 13,717,606 (-)Ensembl
GRCm38X13,517,080 - 13,846,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX13,517,080 - 13,851,367 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X13,094,206 - 13,423,667 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X12,678,006 - 13,003,515 (-)NCBImm8
MGSCv36X10,595,356 - 10,921,350 (-)NCBImm8
CeleraX11,186,392 - 11,514,710 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX8.43NCBI
Cask
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X8,899,500 - 9,243,014 (+)NCBI
Rnor_6.0 EnsemblX9,436,707 - 9,467,884 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX9,815,652 - 10,156,155 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X9,815,652 - 10,156,155 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X10,614,514 - 10,954,635 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X20,910,960 - 21,250,869 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X20,964,277 - 21,304,187 (+)NCBI
CeleraX9,439,547 - 9,776,994 (+)NCBICelera
Cytogenetic MapXq12NCBI
Cask
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955565879,830 - 1,237,692 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955565879,560 - 1,242,727 (+)NCBIChiLan1.0ChiLan1.0
CASK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X41,659,295 - 42,066,570 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX41,659,295 - 42,066,570 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X33,967,329 - 34,374,385 (-)NCBIMhudiblu_PPA_v0panPan3
CASK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X35,939,117 - 36,296,438 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX35,940,647 - 36,297,014 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX23,287,445 - 23,579,098 (-)NCBI
ROS_Cfam_1.0X35,992,809 - 36,371,502 (-)NCBI
UMICH_Zoey_3.1X36,067,274 - 36,417,597 (-)NCBI
UNSW_CanFamBas_1.0X36,039,464 - 36,395,455 (-)NCBI
UU_Cfam_GSD_1.0X36,082,753 - 36,433,406 (-)NCBI
Cask
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X28,092,601 - 28,440,781 (-)NCBI
SpeTri2.0NW_0049365027,933,312 - 8,281,492 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX37,167,577 - 37,536,160 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X37,166,973 - 37,535,723 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X41,385,026 - 41,762,853 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CASK
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X38,704,623 - 39,121,309 (-)NCBI
Cask
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476213,723,347 - 14,106,844 (+)NCBI

Position Markers
DXS8113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X39,146,067 - 39,146,297UniSTSGRCh37
Build 36X39,031,011 - 39,031,241RGDNCBI36
CeleraX43,283,867 - 43,284,101RGD
Cytogenetic MapXp11.4UniSTS
Marshfield Genetic MapX37.87RGD
Marshfield Genetic MapX37.87UniSTS
Genethon Genetic MapX56.6UniSTS
TNG Radiation Hybrid MapX10210.0UniSTS
deCODE Assembly MapX60.58UniSTS
RH68671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,494,203 - 41,494,335UniSTSGRCh37
Build 36X41,379,147 - 41,379,279RGDNCBI36
CeleraX45,636,443 - 45,636,575RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,224,896 - 39,225,028UniSTS
GeneMap99-GB4 RH MapX130.56UniSTS
NCBI RH MapX152.0UniSTS
RH78452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,556,290 - 41,556,414UniSTSGRCh37
Build 36X41,441,234 - 41,441,358RGDNCBI36
CeleraX45,698,515 - 45,698,639RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,287,472 - 39,287,596UniSTS
GeneMap99-GB4 RH MapX129.65UniSTS
RH17463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,556,302 - 41,556,478UniSTSGRCh37
Build 36X41,441,246 - 41,441,422RGDNCBI36
CeleraX45,698,527 - 45,698,703RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,287,484 - 39,287,660UniSTS
GeneMap99-GB4 RH MapX130.56UniSTS
NCBI RH MapX150.7UniSTS
RH98899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,374,382 - 41,374,516UniSTSGRCh37
Build 36X41,259,326 - 41,259,460RGDNCBI36
CeleraX45,516,627 - 45,516,761RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,105,834 - 39,105,968UniSTS
GeneMap99-GB4 RH MapX129.03UniSTS
RH27222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,380,999 - 41,381,164UniSTSGRCh37
Build 36X41,265,943 - 41,266,108RGDNCBI36
CeleraX45,523,244 - 45,523,409RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,112,451 - 39,112,616UniSTS
DXS1387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,739,068 - 41,739,184UniSTSGRCh37
Build 36X41,624,012 - 41,624,128RGDNCBI36
CeleraX45,881,292 - 45,881,408RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,469,740 - 39,469,856UniSTS
DXS1392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,552,084 - 41,552,150UniSTSGRCh37
Build 36X41,437,028 - 41,437,094RGDNCBI36
CeleraX45,694,309 - 45,694,375RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,283,098 - 39,283,164UniSTS
G49441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,378,500 - 41,378,561UniSTSGRCh37
Build 36X41,263,444 - 41,263,505RGDNCBI36
CeleraX45,520,745 - 45,520,806RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,109,952 - 39,110,013UniSTS
DXS1694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,637,023 - 41,637,343UniSTSGRCh37
Build 36X41,521,967 - 41,522,287RGDNCBI36
CeleraX45,779,248 - 45,779,568RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,367,964 - 39,368,284UniSTS
SHGC-146100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,553,995 - 41,554,329UniSTSGRCh37
Build 36X41,438,939 - 41,439,273RGDNCBI36
CeleraX45,696,220 - 45,696,554RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,285,009 - 39,285,343UniSTS
UniSTS:256961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,485,859 - 41,485,956UniSTSGRCh37
Build 36X41,370,803 - 41,370,900RGDNCBI36
CeleraX45,628,099 - 45,628,196RGD
HuRefX39,216,701 - 39,216,798UniSTS
GPR34_2219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,555,407 - 41,556,199UniSTSGRCh37
Build 36X41,440,351 - 41,441,143RGDNCBI36
CeleraX45,697,632 - 45,698,424RGD
HuRefX39,286,589 - 39,287,381UniSTS
GPR82_2567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,586,492 - 41,587,212UniSTSGRCh37
Build 36X41,471,436 - 41,472,156RGDNCBI36
CeleraX45,728,716 - 45,729,436RGD
HuRefX39,317,509 - 39,318,229UniSTS
L77315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,630,626 - 41,630,758UniSTSGRCh37
Build 36X41,515,570 - 41,515,702RGDNCBI36
CeleraX45,772,852 - 45,772,984RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,361,563 - 39,361,695UniSTS
SHGC-35951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,556,379 - 41,556,479UniSTSGRCh37
Build 36X41,441,323 - 41,441,423RGDNCBI36
CeleraX45,698,604 - 45,698,704RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,287,561 - 39,287,661UniSTS
Stanford-G3 RH MapX1446.0UniSTS
GeneMap99-G3 RH MapX641.0UniSTS
CASK__4512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,379,260 - 41,379,825UniSTSGRCh37
Build 36X41,264,204 - 41,264,769RGDNCBI36
CeleraX45,521,505 - 45,522,070RGD
HuRefX39,110,712 - 39,111,277UniSTS
RH69317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,680,987 - 41,681,177UniSTSGRCh37
Build 36X41,565,931 - 41,566,121RGDNCBI36
CeleraX45,823,212 - 45,823,402RGD
Cytogenetic MapXp11.4UniSTS
GeneMap99-GB4 RH MapX129.65UniSTS
SHGC-35026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,494,275 - 41,494,411UniSTSGRCh37
Build 36X41,379,219 - 41,379,355RGDNCBI36
CeleraX45,636,515 - 45,636,651RGD
Cytogenetic MapXp11.4UniSTS
HuRefX39,224,968 - 39,225,104UniSTS
GeneMap99-GB4 RH MapX130.56UniSTS
Whitehead-RH MapX44.0UniSTS
NCBI RH MapX148.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:15799
Count of miRNA genes:1528
Interacting mature miRNAs:2104
Transcripts:ENST00000318588, ENST00000361962, ENST00000378154, ENST00000378158, ENST00000378163, ENST00000378166, ENST00000378168, ENST00000378179, ENST00000421587, ENST00000442742, ENST00000468986, ENST00000469265, ENST00000472704, ENST00000477823, ENST00000486402
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 294 463 115 102 231 72 518 45 449 175 357 325 43 1 226 1
Low 2144 2264 1611 522 1476 393 3838 2114 3277 243 1098 1287 130 1 1203 2562 4 2
Below cutoff 262 239 38 8 1 5 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001126054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001126055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB039327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF032119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF262404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF262405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL603754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY705392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN993605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN607837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378154   ⟹   ENSP00000367396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,554 - 41,923,645 (-)Ensembl
RefSeq Acc Id: ENST00000378158   ⟹   ENSP00000367400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,549 - 41,923,144 (-)Ensembl
RefSeq Acc Id: ENST00000378163   ⟹   ENSP00000367405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,265 - 41,923,475 (-)Ensembl
RefSeq Acc Id: ENST00000378166   ⟹   ENSP00000367408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,897 - 41,923,030 (-)Ensembl
RefSeq Acc Id: ENST00000378168   ⟹   ENSP00000367410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,608 - 41,586,951 (-)Ensembl
RefSeq Acc Id: ENST00000378179   ⟹   ENSP00000367421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,227 - 41,590,082 (-)Ensembl
RefSeq Acc Id: ENST00000421587   ⟹   ENSP00000400526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,514,951 - 41,923,007 (-)Ensembl
RefSeq Acc Id: ENST00000442742   ⟹   ENSP00000398007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,478 - 41,923,161 (-)Ensembl
RefSeq Acc Id: ENST00000468986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,745,497 - 41,922,947 (-)Ensembl
RefSeq Acc Id: ENST00000469265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,635,718 - 41,665,431 (-)Ensembl
RefSeq Acc Id: ENST00000472704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,552,588 - 41,578,453 (-)Ensembl
RefSeq Acc Id: ENST00000477823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,786,810 - 41,922,982 (-)Ensembl
RefSeq Acc Id: ENST00000486402   ⟹   ENSP00000495232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,660,101 - 41,665,832 (-)Ensembl
RefSeq Acc Id: ENST00000642361   ⟹   ENSP00000496025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,697,610 - 41,853,193 (-)Ensembl
RefSeq Acc Id: ENST00000642499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,234 - 41,556,235 (-)Ensembl
RefSeq Acc Id: ENST00000642584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,558,196 - 41,562,882 (-)Ensembl
RefSeq Acc Id: ENST00000642641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,520,006 - 41,524,713 (-)Ensembl
RefSeq Acc Id: ENST00000643043   ⟹   ENSP00000493518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,531,184 - 41,665,847 (-)Ensembl
RefSeq Acc Id: ENST00000643733   ⟹   ENSP00000496319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,520,333 - 41,534,900 (-)Ensembl
RefSeq Acc Id: ENST00000643831   ⟹   ENSP00000494388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,609,985 - 41,665,766 (-)Ensembl
RefSeq Acc Id: ENST00000643853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,583,941 - 41,745,593 (-)Ensembl
RefSeq Acc Id: ENST00000644219   ⟹   ENSP00000495357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,517,308 - 41,923,161 (-)Ensembl
RefSeq Acc Id: ENST00000644347   ⟹   ENSP00000494183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,514,934 - 41,923,169 (-)Ensembl
RefSeq Acc Id: ENST00000644770   ⟹   ENSP00000494144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,743,553 - 41,923,012 (-)Ensembl
RefSeq Acc Id: ENST00000645566   ⟹   ENSP00000494788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,211 - 41,923,015 (-)Ensembl
RefSeq Acc Id: ENST00000645937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,534,706 - 41,588,520 (-)Ensembl
RefSeq Acc Id: ENST00000645986   ⟹   ENSP00000494409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,295 - 41,923,195 (-)Ensembl
RefSeq Acc Id: ENST00000646087   ⟹   ENSP00000495510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,237 - 41,923,171 (-)Ensembl
RefSeq Acc Id: ENST00000646120   ⟹   ENSP00000495291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,519,221 - 41,923,048 (-)Ensembl
RefSeq Acc Id: ENST00000647118   ⟹   ENSP00000493700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,626,604 - 41,923,007 (-)Ensembl
RefSeq Acc Id: ENST00000675354   ⟹   ENSP00000502315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,514,934 - 41,923,517 (-)Ensembl
RefSeq Acc Id: NM_001126054   ⟹   NP_001119526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,034 (-)NCBI
GRCh37X41,374,187 - 41,782,415 (-)NCBI
HuRefX39,105,639 - 39,513,256 (-)ENTREZGENE
CHM1_1X41,406,782 - 41,814,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001126055   ⟹   NP_001119527
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,034 (-)NCBI
GRCh37X41,374,187 - 41,782,415 (-)NCBI
HuRefX39,105,639 - 39,513,256 (-)ENTREZGENE
CHM1_1X41,406,782 - 41,814,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367721   ⟹   NP_001354650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,554 (-)NCBI
RefSeq Acc Id: NM_003688   ⟹   NP_003679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,034 (-)NCBI
GRCh37X41,374,187 - 41,782,415 (-)NCBI
Build 36X41,264,287 - 41,667,212 (-)NCBI Archive
HuRefX39,105,639 - 39,513,256 (-)ENTREZGENE
CHM1_1X41,406,782 - 41,814,790 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272686   ⟹   XP_005272743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,525 (-)NCBI
GRCh37X41,374,187 - 41,782,415 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724566   ⟹   XP_006724629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,525 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543993   ⟹   XP_011542295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,086 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543994   ⟹   XP_011542296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,086 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543995   ⟹   XP_011542297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,086 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543996   ⟹   XP_011542298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,923,086 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543997   ⟹   XP_011542299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,666,041 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452473   ⟹   XP_024308241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,514,934 - 41,666,028 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001119526 (Get FASTA)   NCBI Sequence Viewer  
  NP_001119527 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354650 (Get FASTA)   NCBI Sequence Viewer  
  NP_003679 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272743 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724629 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542295 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542296 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542297 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542298 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542299 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308241 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB88125 (Get FASTA)   NCBI Sequence Viewer  
  AAB88198 (Get FASTA)   NCBI Sequence Viewer  
  AAF72666 (Get FASTA)   NCBI Sequence Viewer  
  AAF72667 (Get FASTA)   NCBI Sequence Viewer  
  AAI17312 (Get FASTA)   NCBI Sequence Viewer  
  AAI43455 (Get FASTA)   NCBI Sequence Viewer  
  AAI43457 (Get FASTA)   NCBI Sequence Viewer  
  AAU10527 (Get FASTA)   NCBI Sequence Viewer  
  BAB12252 (Get FASTA)   NCBI Sequence Viewer  
  BAD92096 (Get FASTA)   NCBI Sequence Viewer  
  CEF49524 (Get FASTA)   NCBI Sequence Viewer  
  EAW59390 (Get FASTA)   NCBI Sequence Viewer  
  EAW59391 (Get FASTA)   NCBI Sequence Viewer  
  EAW59392 (Get FASTA)   NCBI Sequence Viewer  
  EAW59393 (Get FASTA)   NCBI Sequence Viewer  
  O14936 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001119526   ⟸   NM_001126054
- Peptide Label: isoform 2
- UniProtKB: O14936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003679   ⟸   NM_003688
- Peptide Label: isoform 1
- UniProtKB: O14936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001119527   ⟸   NM_001126055
- Peptide Label: isoform 3
- UniProtKB: O14936 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272743   ⟸   XM_005272686
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724629   ⟸   XM_006724566
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542298   ⟸   XM_011543996
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011542297   ⟸   XM_011543995
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542296   ⟸   XM_011543994
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542295   ⟸   XM_011543993
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542299   ⟸   XM_011543997
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308241   ⟸   XM_024452473
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001354650   ⟸   NM_001367721
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000367408   ⟸   ENST00000378166
RefSeq Acc Id: ENSP00000367405   ⟸   ENST00000378163
RefSeq Acc Id: ENSP00000367410   ⟸   ENST00000378168
RefSeq Acc Id: ENSP00000367421   ⟸   ENST00000378179
RefSeq Acc Id: ENSP00000367396   ⟸   ENST00000378154
RefSeq Acc Id: ENSP00000367400   ⟸   ENST00000378158
RefSeq Acc Id: ENSP00000398007   ⟸   ENST00000442742
RefSeq Acc Id: ENSP00000496025   ⟸   ENST00000642361
RefSeq Acc Id: ENSP00000493518   ⟸   ENST00000643043
RefSeq Acc Id: ENSP00000495232   ⟸   ENST00000486402
RefSeq Acc Id: ENSP00000496319   ⟸   ENST00000643733
RefSeq Acc Id: ENSP00000494388   ⟸   ENST00000643831
RefSeq Acc Id: ENSP00000494183   ⟸   ENST00000644347
RefSeq Acc Id: ENSP00000494144   ⟸   ENST00000644770
RefSeq Acc Id: ENSP00000495357   ⟸   ENST00000644219
RefSeq Acc Id: ENSP00000494409   ⟸   ENST00000645986
RefSeq Acc Id: ENSP00000494788   ⟸   ENST00000645566
RefSeq Acc Id: ENSP00000400526   ⟸   ENST00000421587
RefSeq Acc Id: ENSP00000495291   ⟸   ENST00000646120
RefSeq Acc Id: ENSP00000495510   ⟸   ENST00000646087
RefSeq Acc Id: ENSP00000493700   ⟸   ENST00000647118
RefSeq Acc Id: ENSP00000502315   ⟸   ENST00000675354
Protein Domains
Guanylate kinase-like   L27   PDZ   Protein kinase   SH3

Promoters
RGD ID:6808556
Promoter ID:HG_KWN:66495
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000056288,   OTTHUMT00000056289
Position:
Human AssemblyChrPosition (strand)Source
Build 36X41,409,656 - 41,410,156 (-)MPROMDB
RGD ID:6808560
Promoter ID:HG_KWN:66503
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:ENST00000318588,   ENST00000361962,   ENST00000378154,   ENST00000378158,   ENST00000378163,   NM_001126054,   NM_003688,   OTTHUMT00000056282,   OTTHUMT00000056286,   OTTHUMT00000056287
Position:
Human AssemblyChrPosition (strand)Source
Build 36X41,667,206 - 41,668,182 (-)MPROMDB
RGD ID:13605090
Promoter ID:EPDNEW_H28729
Type:initiation region
Name:CASK_1
Description:calcium/calmodulin dependent serine protein kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28730  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,923,002 - 41,923,062EPDNEW
RGD ID:13605092
Promoter ID:EPDNEW_H28730
Type:initiation region
Name:CASK_2
Description:calcium/calmodulin dependent serine protein kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28729  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,923,253 - 41,923,313EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000718966]|Mental retardation, CASK-related, X-linked [RCV000551457] ChrX:41578432 [GRCh38]
ChrX:41437685 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) single nucleotide variant FG syndrome 4 [RCV000022829]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000193589] ChrX:41534946 [GRCh38]
ChrX:41394199 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_003688.3(CASK):c.2506-2A>T single nucleotide variant FG syndrome 4 [RCV000022830]|not specified [RCV000145403] ChrX:41524036 [GRCh38]
ChrX:41383289 [GRCh37]
ChrX:Xp11.4
pathogenic|benign
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000022831]|not provided [RCV000522520] ChrX:41745564 [GRCh38]
ChrX:41604817 [GRCh37]
ChrX:Xp11.4
pathogenic
NG_016754.1:g.5000-?_5105+?del deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000022832] ChrX:Xp11.4 pathogenic
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000022833] ChrX:41561588 [GRCh38]
ChrX:41420841 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.2327_2328del (p.Asp776fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000723311] ChrX:41531184..41531185 [GRCh38]
ChrX:41390437..41390438 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) single nucleotide variant History of neurodevelopmental disorder [RCV000720727]|Mental retardation, CASK-related, X-linked [RCV000553027] ChrX:41534954 [GRCh38]
ChrX:41394207 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) single nucleotide variant FG syndrome 4 [RCV000012292]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990800]|Mental retardation, CASK-related, X-linked [RCV001086366]|not provided [RCV000733420] ChrX:41589562 [GRCh38]
ChrX:41448815 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000012286]|not provided [RCV000255325] ChrX:41553843 [GRCh38]
ChrX:41413096 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.915G>A (p.Lys305=) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000012287] ChrX:41636578 [GRCh38]
ChrX:41495831 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu) single nucleotide variant FG syndrome 4 [RCV000012288] ChrX:41853204 [GRCh38]
ChrX:41712457 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) single nucleotide variant FG syndrome 4 [RCV000012289] ChrX:41660468 [GRCh38]
ChrX:41519721 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) single nucleotide variant FG syndrome 4 [RCV000012290]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000760252] ChrX:41542717 [GRCh38]
ChrX:41401970 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg) single nucleotide variant FG syndrome 4 [RCV000012291] ChrX:41520446 [GRCh38]
ChrX:41379699 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.2573C>T (p.Thr858Ile) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000554466] ChrX:41523967 [GRCh38]
ChrX:41383220 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.278+16743C>T single nucleotide variant Lung cancer [RCV000102598] ChrX:41770435 [GRCh38]
ChrX:41629688 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp11.4(chrX:41534941-41915080)x1 copy number loss See cases [RCV000053089] ChrX:41534941..41915080 [GRCh38]
ChrX:41394194..41774333 [GRCh37]
ChrX:41279138..41659277 [NCBI36]
ChrX:Xp11.4
pathogenic
GRCh38/hg38 Xp11.4(chrX:41615487-41836444)x1 copy number loss See cases [RCV000053091] ChrX:41615487..41836444 [GRCh38]
ChrX:41474740..41695697 [GRCh37]
ChrX:41359684..41580641 [NCBI36]
ChrX:Xp11.4
pathogenic
GRCh38/hg38 Xp11.4-11.3(chrX:41823849-44240337)x1 copy number loss See cases [RCV000053092] ChrX:41823849..44240337 [GRCh38]
ChrX:41683102..44099583 [GRCh37]
ChrX:41568046..43984527 [NCBI36]
ChrX:Xp11.4-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(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-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 Xp11.4-11.3(chrX:41431518-43256505)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054169]|See cases [RCV000054169] ChrX:41431518..43256505 [GRCh38]
ChrX:41290771..43115754 [GRCh37]
ChrX:41175715..43000698 [NCBI36]
ChrX:Xp11.4-11.3
uncertain significance
GRCh38/hg38 Xp11.4(chrX:41630750-41807553)x3 copy number gain See cases [RCV000054170] ChrX:41630750..41807553 [GRCh38]
ChrX:41490003..41666806 [GRCh37]
ChrX:41374947..41551750 [NCBI36]
ChrX:Xp11.4
uncertain significance
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_003688.3(CASK):c.1890C>T (p.Leu630=) single nucleotide variant Malignant melanoma [RCV000073193] ChrX:41553868 [GRCh38]
ChrX:41413121 [GRCh37]
ChrX:41298065 [NCBI36]
ChrX:Xp11.4
not provided
NM_003688.3(CASK):c.1034-6C>T single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000550250]|not specified [RCV000080346] ChrX:41610031 [GRCh38]
ChrX:41469284 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000552953]|not specified [RCV000080347] ChrX:41557044 [GRCh38]
ChrX:41416297 [GRCh37]
ChrX:Xp11.4
benign|likely benign|uncertain significance
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) single nucleotide variant not provided [RCV000080348] ChrX:41534706 [GRCh38]
ChrX:41393959 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.356+6T>C single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001082975]|not provided [RCV000080349] ChrX:41745518 [GRCh38]
ChrX:41604771 [GRCh37]
ChrX:Xp11.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) single nucleotide variant History of neurodevelopmental disorder [RCV000716777]|Mental retardation, CASK-related, X-linked [RCV000559350]|not specified [RCV000080350] ChrX:41739450 [GRCh38]
ChrX:41598703 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.725G>A (p.Trp242Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001253169] ChrX:41660545 [GRCh38]
ChrX:41519798 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_003688.3(CASK):c.1504-15dup duplication Mental retardation, CASK-related, X-linked [RCV000872844]|not specified [RCV000175048] ChrX:41569751..41569752 [GRCh38]
ChrX:41429005 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) single nucleotide variant History of neurodevelopmental disorder [RCV000718199]|Mental retardation, CASK-related, X-linked [RCV001079336]|not provided [RCV000865081]|not specified [RCV000174317] ChrX:41609982 [GRCh38]
ChrX:41469235 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) single nucleotide variant Congenital cerebellar hypoplasia [RCV001257954]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000175755]|not provided [RCV000723984] ChrX:41853208 [GRCh38]
ChrX:41712461 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2486A>G (p.Gln829Arg) single nucleotide variant Inborn genetic diseases [RCV000190700] ChrX:41531041 [GRCh38]
ChrX:41390294 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
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_080817.5(GPR82):c.482G>T (p.Gly161Val) single nucleotide variant Malignant tumor of prostate [RCV000149334] ChrX:41727508 [GRCh38]
ChrX:41586761 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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-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_001367721.1(CASK):c.1419A>G (p.Pro473=) single nucleotide variant not provided [RCV000174884] ChrX:41578424 [GRCh38]
ChrX:41437677 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1234-22G>A single nucleotide variant not specified [RCV000145391] ChrX:41587009 [GRCh38]
ChrX:41446262 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.1234-30G>A single nucleotide variant not specified [RCV000145392] ChrX:41587017 [GRCh38]
ChrX:41446270 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145394] ChrX:41561582..41561583 [GRCh38]
ChrX:41420835..41420836 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145395] ChrX:41553719 [GRCh38]
ChrX:41412972 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2040-9A>G single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000540540]|not specified [RCV000145396] ChrX:41542815 [GRCh38]
ChrX:41402068 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145397]|not provided [RCV000263870] ChrX:41542805 [GRCh38]
ChrX:41402058 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145398] ChrX:41542772 [GRCh38]
ChrX:41402025 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145399] ChrX:41922962..41922969 [GRCh38]
ChrX:41782215..41782222 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg) single nucleotide variant not specified [RCV000145400] ChrX:41534931 [GRCh38]
ChrX:41394184 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145402] ChrX:41531042 [GRCh38]
ChrX:41390295 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.429+11419A>G single nucleotide variant not specified [RCV000145404] ChrX:41727965 [GRCh38]
ChrX:41587218 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.430-2A>T single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145406] ChrX:41671532 [GRCh38]
ChrX:41530785 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145409] ChrX:41665368 [GRCh38]
ChrX:41524621 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.708+1G>A single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145411] ChrX:41665276 [GRCh38]
ChrX:41524529 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.764G>A (p.Arg255His) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145413]|not provided [RCV000494524] ChrX:41660506 [GRCh38]
ChrX:41519759 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145415]|not provided [RCV000430705] ChrX:41853205 [GRCh38]
ChrX:41712458 [GRCh37]
ChrX:Xp11.4
pathogenic|benign|conflicting interpretations of pathogenicity
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145416] ChrX:41636613 [GRCh38]
ChrX:41495866 [GRCh37]
ChrX:Xp11.4
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_001367721.1(CASK):c.1269C>T (p.Asn423=) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000145393] ChrX:41586952 [GRCh38]
ChrX:41446205 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) single nucleotide variant History of neurodevelopmental disorder [RCV000716787]|Mental retardation, CASK-related, X-linked [RCV000646777]|not specified [RCV000145401] ChrX:41531085 [GRCh38]
ChrX:41390338 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
NM_001367721.1(CASK):c.600A>G (p.Val200=) single nucleotide variant not specified [RCV000145407] ChrX:41665385 [GRCh38]
ChrX:41524638 [GRCh37]
ChrX:Xp11.4
likely benign
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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(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 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:40883294-41689223)x2 copy number gain See cases [RCV000135419] ChrX:40883294..41689223 [GRCh38]
ChrX:40742547..41548476 [GRCh37]
ChrX:40627491..41433420 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.4(chrX:41592246-41619238)x1 copy number loss See cases [RCV000137558] ChrX:41592246..41619238 [GRCh38]
ChrX:41451499..41478491 [GRCh37]
ChrX:41336443..41363435 [NCBI36]
ChrX:Xp11.4
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.4(chrX:41787211-41795764)x1 copy number loss See cases [RCV000138213] ChrX:41787211..41795764 [GRCh38]
ChrX:41646464..41655017 [GRCh37]
ChrX:41531408..41539961 [NCBI36]
ChrX:Xp11.4
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
NM_003688.3(CASK):c.1718C>T (p.Thr573Ile) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001084777]|not provided [RCV000175306] ChrX:41559798 [GRCh38]
ChrX:41419051 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:41698827-41732124)x2 copy number gain See cases [RCV000140542] ChrX:41698827..41732124 [GRCh38]
ChrX:41558080..41591377 [GRCh37]
ChrX:41443024..41476321 [NCBI36]
ChrX:Xp11.4
likely benign
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 Xp11.4(chrX:41778639-41999565)x2 copy number gain See cases [RCV000140866] ChrX:41778639..41999565 [GRCh38]
ChrX:41637892..41858818 [GRCh37]
ChrX:41522836..41743762 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.4-11.3(chrX:41827804-43285505)x1 copy number loss See cases [RCV000141649] ChrX:41827804..43285505 [GRCh38]
ChrX:41687057..43144754 [GRCh37]
ChrX:41572001..43029698 [NCBI36]
ChrX:Xp11.4-11.3
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
NM_080817.5(GPR82):c.678C>A (p.Ser226Arg) single nucleotide variant not provided [RCV000515045] ChrX:41727704 [GRCh38]
ChrX:41586957 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:41736613-41807412)x2 copy number gain See cases [RCV000143149] ChrX:41736613..41807412 [GRCh38]
ChrX:41595866..41666665 [GRCh37]
ChrX:41480810..41551609 [NCBI36]
ChrX:Xp11.4
likely 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_003688.3(CASK):c.1976G>A (p.Gly659Asp) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000157068] ChrX:41553782 [GRCh38]
ChrX:41413035 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001086643]|not provided [RCV000723901]|not specified [RCV000152928] ChrX:41553836 [GRCh38]
ChrX:41413089 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.891A>G (p.Lys297=) single nucleotide variant History of neurodevelopmental disorder [RCV000717454]|Mental retardation, CASK-related, X-linked [RCV001080077]|not provided [RCV000723800]|not specified [RCV000193643] ChrX:41636602 [GRCh38]
ChrX:41495855 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) single nucleotide variant not provided [RCV000173304] ChrX:41922934 [GRCh38]
ChrX:41782187 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_001367721.1(CASK):c.159G>T (p.Gly53=) single nucleotide variant not provided [RCV000175757] ChrX:41853128 [GRCh38]
ChrX:41712381 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) single nucleotide variant not specified [RCV000192500] ChrX:41531202 [GRCh38]
ChrX:41390455 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) single nucleotide variant History of neurodevelopmental disorder [RCV000715919]|Mental retardation, CASK-related, X-linked [RCV000946229]|not specified [RCV000192552] ChrX:41553739 [GRCh38]
ChrX:41412992 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.2521-2A>G single nucleotide variant Dystonia [RCV000626851]|not provided [RCV000255115] ChrX:41524036 [GRCh38]
ChrX:41383289 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) single nucleotide variant History of neurodevelopmental disorder [RCV000716603]|Mental retardation, CASK-related, X-linked [RCV001083074]|not provided [RCV000526259]|not specified [RCV000193126] ChrX:41609934 [GRCh38]
ChrX:41469187 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) single nucleotide variant Deficiency of butyrylcholine esterase [RCV000509534]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000193508] ChrX:41531135 [GRCh38]
ChrX:41390388 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|not provided
NM_003688.3(CASK):c.2506-11_2506-10insTT insertion not provided [RCV000176655] ChrX:41524044..41524045 [GRCh38]
ChrX:41383297..41383298 [GRCh37]
ChrX:Xp11.4
other|not provided
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003688.3(CASK):c.2303-2A>G single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000198342] ChrX:41531211 [GRCh38]
ChrX:41390464 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.429+4del deletion not specified [RCV000192979] ChrX:41739380 [GRCh38]
ChrX:41598633 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1033+1G>A single nucleotide variant not provided [RCV000514194] ChrX:41622616 [GRCh38]
ChrX:41481869 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.2317+10G>C single nucleotide variant not specified [RCV000194468] ChrX:41534696 [GRCh38]
ChrX:41393949 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1981del (p.Leu661fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000194542] ChrX:41553777 [GRCh38]
ChrX:41413030 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2544_2545AG[1] (p.Glu849fs) microsatellite Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000194553] ChrX:41524008..41524009 [GRCh38]
ChrX:41383261..41383262 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.609G>A (p.Trp203Ter) single nucleotide variant not provided [RCV000255294] ChrX:41665376 [GRCh38]
ChrX:41524629 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001367721.1(CASK):c.2527A>T (p.Lys843Ter) single nucleotide variant not provided [RCV000255475] ChrX:41524028 [GRCh38]
ChrX:41383281 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2344G>T (p.Glu782Ter) single nucleotide variant not provided [RCV000255476] ChrX:41531183 [GRCh38]
ChrX:41390436 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) single nucleotide variant Inborn genetic diseases [RCV000210732]|Mental retardation, CASK-related, X-linked [RCV000872510] ChrX:41586932 [GRCh38]
ChrX:41446185 [GRCh37]
ChrX:Xp11.4
benign|uncertain significance
NM_003688.3(CASK):c.1669-12dup duplication Mental retardation, CASK-related, X-linked [RCV001088617]|not provided [RCV000540173] ChrX:41559852..41559853 [GRCh38]
ChrX:41419105..41419106 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001097579.2(GPR34):c.884A>G (p.Asn295Ser) single nucleotide variant not provided [RCV000224283] ChrX:41696517 [GRCh38]
ChrX:41555770 [GRCh37]
ChrX:Xp11.4
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4(chrX:41485589-41486197)x1 copy number loss See cases [RCV000239825] ChrX:41485589..41486197 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003688.3(CASK):c.109C>T (p.Gln37Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000620583] ChrX:41853178 [GRCh38]
ChrX:41712431 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.184del (p.Glu62fs) deletion not provided [RCV000520331] ChrX:41787272 [GRCh38]
ChrX:41646525 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter) single nucleotide variant not provided [RCV000256136] ChrX:41542746 [GRCh38]
ChrX:41401999 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003688.3(CASK):c.344A>T (p.Glu115Val) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000543246]|not provided [RCV000347432] ChrX:41745536 [GRCh38]
ChrX:41604789 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.720G>T (p.Arg240Ser) single nucleotide variant not provided [RCV000313777] ChrX:41660550 [GRCh38]
ChrX:41519803 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2645T>G (p.Leu882Ter) single nucleotide variant not provided [RCV000334606] ChrX:41520556 [GRCh38]
ChrX:41379809 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.1669-9C>A single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000920192]|not specified [RCV000285805] ChrX:41559856 [GRCh38]
ChrX:41419109 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_003688.3(CASK):c.1315-10A>G single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001087999]|not provided [RCV000725078]|not specified [RCV000356667] ChrX:41578538 [GRCh38]
ChrX:41437791 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.523dup (p.Val175fs) duplication not provided [RCV000370759] ChrX:41671436..41671437 [GRCh38]
ChrX:41530689..41530690 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2270dup (p.Asn757fs) duplication not provided [RCV000399374] ChrX:41534752..41534753 [GRCh38]
ChrX:41394005..41394006 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.429+1G>A single nucleotide variant not provided [RCV000402075] ChrX:41739383 [GRCh38]
ChrX:41598636 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.2302+9T>C single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001088165]|not provided [RCV000261997] ChrX:41534697 [GRCh38]
ChrX:41393950 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001087320]|not provided [RCV000514589] ChrX:41534726 [GRCh38]
ChrX:41393979 [GRCh37]
ChrX:Xp11.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000717862]|Mental retardation, CASK-related, X-linked [RCV001238872]|not provided [RCV000369557] ChrX:41578453 [GRCh38]
ChrX:41437706 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr) single nucleotide variant not provided [RCV000488408] ChrX:41559816 [GRCh38]
ChrX:41419069 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.279T>C (p.Phe93=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001216184]|not specified [RCV000601127] ChrX:41745601 [GRCh38]
ChrX:41604854 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) single nucleotide variant not provided [RCV000597422] ChrX:41589524 [GRCh38]
ChrX:41448777 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) single nucleotide variant not provided [RCV000593897] ChrX:41589533 [GRCh38]
ChrX:41448786 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter) single nucleotide variant not provided [RCV000578669] ChrX:41636647 [GRCh38]
ChrX:41495900 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.553_565del (p.Phe185fs) deletion not provided [RCV000627465] ChrX:41665420..41665432 [GRCh38]
ChrX:41524673..41524685 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990797]|not provided [RCV000599298] ChrX:41561618 [GRCh38]
ChrX:41420871 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.1669-8C>G single nucleotide variant not provided [RCV000597316] ChrX:41559855 [GRCh38]
ChrX:41419108 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1503+18G>C single nucleotide variant not specified [RCV000603168] ChrX:41578322 [GRCh38]
ChrX:41437575 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.2236+1delinsAT indel Congenital cerebellar hypoplasia [RCV000626850] ChrX:41534892 [GRCh38]
ChrX:41394145 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_003688.3:c.116_117delCA deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000415496] ChrX:Xp11.4 pathogenic
NM_003688.3(CASK):c.42G>C (p.Leu14=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001078764]|not provided [RCV000732452] ChrX:41922947 [GRCh38]
ChrX:41782200 [GRCh37]
ChrX:Xp11.4
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001367721.1(CASK):c.2383C>T (p.Gln795Ter) single nucleotide variant not provided [RCV000412809] ChrX:41531144 [GRCh38]
ChrX:41390397 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1503+3A>G single nucleotide variant not provided [RCV000732821] ChrX:41578337 [GRCh38]
ChrX:41437590 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1098G>T (p.Lys366Asn) single nucleotide variant not provided [RCV000730789] ChrX:41609961 [GRCh38]
ChrX:41469214 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1582G>A (p.Gly528Ser) single nucleotide variant not provided [RCV000414089] ChrX:41569668 [GRCh38]
ChrX:41428921 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.2155+2T>C single nucleotide variant not provided [RCV000523005] ChrX:41542689 [GRCh38]
ChrX:41401942 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.2018C>T (p.Pro673Leu) single nucleotide variant not provided [RCV000443443] ChrX:41553740 [GRCh38]
ChrX:41412993 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.2039+15G>A single nucleotide variant not specified [RCV000434776] ChrX:41553704 [GRCh38]
ChrX:41412957 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.2418C>T (p.His806=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000546336]|not specified [RCV000438704] ChrX:41531094 [GRCh38]
ChrX:41390347 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001367721.1(CASK):c.1504-2A>C single nucleotide variant not provided [RCV000419173] ChrX:41569748 [GRCh38]
ChrX:41429001 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1717A>T (p.Thr573Ser) single nucleotide variant Inborn genetic diseases [RCV000623320]|Mental retardation, CASK-related, X-linked [RCV001071225]|not provided [RCV000425433] ChrX:41559799 [GRCh38]
ChrX:41419052 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.493G>C (p.Val165Leu) single nucleotide variant not provided [RCV000427392] ChrX:41671467 [GRCh38]
ChrX:41530720 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001367721.1(CASK):c.1503+15A>G single nucleotide variant not specified [RCV000437501] ChrX:41578325 [GRCh38]
ChrX:41437578 [GRCh37]
ChrX:Xp11.4
likely benign
NM_080817.5(GPR82):c.554G>A (p.Ser185Asn) single nucleotide variant not provided [RCV000441481] ChrX:41727580 [GRCh38]
ChrX:41586833 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003688.3(CASK):c.1837C>T (p.Arg613Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000502316]|not provided [RCV000481042] ChrX:41555605 [GRCh38]
ChrX:41414858 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2191_2193GTA[1] (p.Val732del) microsatellite not provided [RCV000481153] ChrX:41534933..41534935 [GRCh38]
ChrX:41394186..41394188 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2425G>A (p.Gly809Ser) single nucleotide variant not provided [RCV000481292] ChrX:41531102 [GRCh38]
ChrX:41390355 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.2155+4_2155+6delinsA indel not specified [RCV000479540] ChrX:41542685..41542687 [GRCh38]
ChrX:41401938..41401940 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.524T>C (p.Val175Ala) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000685120]|not provided [RCV000483810] ChrX:41671436 [GRCh38]
ChrX:41530689 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.430-27_430-20del microsatellite not specified [RCV000484120] ChrX:41671550..41671557 [GRCh38]
ChrX:41530803..41530810 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.1521G>T (p.Met507Ile) single nucleotide variant not provided [RCV000484373] ChrX:41569729 [GRCh38]
ChrX:41428982 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1273G>A (p.Ala425Thr) single nucleotide variant not provided [RCV000485165] ChrX:41586948 [GRCh38]
ChrX:41446201 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2174T>C (p.Leu725Pro) single nucleotide variant not provided [RCV000485912] ChrX:41534955 [GRCh38]
ChrX:41394208 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1480C>T (p.Gln494Ter) single nucleotide variant CASK-Related Disorder [RCV000509559]|not provided [RCV000485707] ChrX:41578363 [GRCh38]
ChrX:41437616 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
NM_001367721.1(CASK):c.763C>T (p.Arg255Cys) single nucleotide variant not provided [RCV000485733] ChrX:41660507 [GRCh38]
ChrX:41519760 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.974C>A (p.Pro325His) single nucleotide variant not provided [RCV000482216] ChrX:41626645 [GRCh38]
ChrX:41485898 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu) single nucleotide variant not provided [RCV000482321] ChrX:41531130 [GRCh38]
ChrX:41390383 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1586C>A (p.Thr529Lys) single nucleotide variant not provided [RCV000486489] ChrX:41561641 [GRCh38]
ChrX:41420894 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.59+2T>C single nucleotide variant not provided [RCV000480109] ChrX:41922928 [GRCh38]
ChrX:41782181 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.430-31TGTT[2] microsatellite not specified [RCV000483223] ChrX:41671550..41671553 [GRCh38]
ChrX:41530803..41530806 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000503963] ChrX:41524005..41524006 [GRCh38]
ChrX:41383258..41383259 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003688.3(CASK):c.68del (p.Phe23fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000496613] ChrX:41853219 [GRCh38]
ChrX:41712472 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.660C>G (p.Tyr220Ter) single nucleotide variant not provided [RCV000497506] ChrX:41665325 [GRCh38]
ChrX:41524578 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.2589+1G>T single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000502216] ChrX:41523950 [GRCh38]
ChrX:41383203 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp) single nucleotide variant not provided [RCV000497647] ChrX:41534786 [GRCh38]
ChrX:41394039 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.496G>C (p.Ala166Pro) single nucleotide variant not provided [RCV000497686] ChrX:41671464 [GRCh38]
ChrX:41530717 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_003688.3(CASK):c.846C>G (p.Tyr282Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000502372]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000763625]|not provided [RCV000656243] ChrX:41636647 [GRCh38]
ChrX:41495900 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000621770]|not provided [RCV000498072] ChrX:41665359 [GRCh38]
ChrX:41524612 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.1860A>G (p.Gln620=) single nucleotide variant not specified [RCV000500407] ChrX:41553898 [GRCh38]
ChrX:41413151 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000500609] ChrX:41553894 [GRCh38]
ChrX:41413147 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000878294]|not specified [RCV000500773] ChrX:41534746 [GRCh38]
ChrX:41393999 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val) single nucleotide variant not provided [RCV000505919] ChrX:41553822 [GRCh38]
ChrX:41413075 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23
pathogenic
GRCh37/hg19 Xp11.4(chrX:41708906-41713659)x1 copy number loss See cases [RCV000511735] ChrX:41708906..41713659 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) single nucleotide variant CASK-Related Disorder [RCV000844926]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990798]|Smith-Magenis Syndrome-like [RCV000491353] ChrX:41578378 [GRCh38]
ChrX:41437631 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|not provided
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000579113] ChrX:41922988 [GRCh38]
ChrX:41782241 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001367721.1(CASK):c.1005T>C (p.Pro335=) single nucleotide variant not provided [RCV000928855]|not specified [RCV000603047] ChrX:41626614 [GRCh38]
ChrX:41485867 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.1315-7A>G single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000618602] ChrX:41578535 [GRCh38]
ChrX:41437788 [GRCh37]
ChrX:Xp11.4
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_003688.3(CASK):c.2574T>A (p.Thr858=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000530774] ChrX:41523966 [GRCh38]
ChrX:41383219 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.59+9C>T single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000535378] ChrX:41922921 [GRCh38]
ChrX:41782174 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.191G>A (p.Ser64Asn) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646770] ChrX:41787265 [GRCh38]
ChrX:41646518 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2048C>T (p.Ala683Val) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646771] ChrX:41542798 [GRCh38]
ChrX:41402051 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2142A>T (p.Ala714=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646776] ChrX:41542704 [GRCh38]
ChrX:41401957 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.303T>C (p.Phe101=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646778] ChrX:41745577 [GRCh38]
ChrX:41604830 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter) duplication Inborn genetic diseases [RCV000624088] ChrX:41636647..41636648 [GRCh38]
ChrX:41495900..41495901 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1195del (p.Arg399fs) deletion not provided [RCV000627663] ChrX:41589553 [GRCh38]
ChrX:41448806 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter) single nucleotide variant Inborn genetic diseases [RCV000624320] ChrX:41542781 [GRCh38]
ChrX:41402034 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2040-17C>A single nucleotide variant not specified [RCV000615315] ChrX:41542823 [GRCh38]
ChrX:41402076 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.2737G>A (p.Val913Met) single nucleotide variant not provided [RCV000523441] ChrX:41520464 [GRCh38]
ChrX:41379717 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2302+1G>A single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000618847]|Mental retardation, CASK-related, X-linked [RCV001226408] ChrX:41534705 [GRCh38]
ChrX:41393958 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.430-18G>A single nucleotide variant not specified [RCV000616918] ChrX:41671548 [GRCh38]
ChrX:41530801 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.1592A>C (p.His531Pro) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000527725] ChrX:41561635 [GRCh38]
ChrX:41420888 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.1302A>G (p.Gln434=) single nucleotide variant not specified [RCV000609388] ChrX:41586919 [GRCh38]
ChrX:41446172 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.1408G>A (p.Gly470Ser) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646772] ChrX:41578435 [GRCh38]
ChrX:41437688 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1777G>C (p.Gly593Arg) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646773] ChrX:41557061 [GRCh38]
ChrX:41416314 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2155+4G>A single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000646774] ChrX:41542687 [GRCh38]
ChrX:41401940 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1669-6C>A single nucleotide variant not provided [RCV000646775] ChrX:41559853 [GRCh38]
ChrX:41419106 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.746C>A (p.Ala249Asp) single nucleotide variant Inborn genetic diseases [RCV000622638] ChrX:41660524 [GRCh38]
ChrX:41519777 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2155+1G>C single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000627089] ChrX:41542690 [GRCh38]
ChrX:41401943 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter) single nucleotide variant not provided [RCV000627199] ChrX:41520444 [GRCh38]
ChrX:41379697 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1556T>C (p.Met519Thr) single nucleotide variant Inborn genetic diseases [RCV000622948] ChrX:41569694 [GRCh38]
ChrX:41428947 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2040-1G>A single nucleotide variant CASK-Related Disorder [RCV000677399] ChrX:41542807 [GRCh38]
ChrX:41402060 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.21dup (p.Phe8fs) duplication not provided [RCV000657515] ChrX:41922967..41922968 [GRCh38]
ChrX:41782220..41782221 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1015+1G>C single nucleotide variant History of neurodevelopmental disorder [RCV000715691] ChrX:41626603 [GRCh38]
ChrX:41485856 [GRCh37]
ChrX:Xp11.4
pathogenic
Single allele duplication not provided [RCV000677963] ChrX:41194996..41504859 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.596C>T (p.Pro199Leu) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000686262] ChrX:41665389 [GRCh38]
ChrX:41524642 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.4(chrX:41760334-42078539)x3 copy number gain not provided [RCV000684322] ChrX:41760334..42078539 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1836A>T (p.Gly612=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000706774] ChrX:41555606 [GRCh38]
ChrX:41414859 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1 copy number loss not provided [RCV000709794] ChrX:41772933..41777035 [GRCh37]
ChrX:Xp11.4
not provided
NM_003688.3(CASK):c.305A>G (p.Glu102Gly) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000697924] ChrX:41745575 [GRCh38]
ChrX:41604828 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_003688.3(CASK):c.1436A>G (p.Asp479Gly) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000691244] ChrX:41578407 [GRCh38]
ChrX:41437660 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) deletion Mental retardation, CASK-related, X-linked [RCV000691765]|not provided [RCV001268340] ChrX:41561583..41561586 [GRCh38]
ChrX:41420836..41420839 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.2212G>C (p.Val738Leu) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000703475] ChrX:41534902 [GRCh38]
ChrX:41394155 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001004916]|Mental retardation, CASK-related, X-linked [RCV000703484] ChrX:41553848 [GRCh38]
ChrX:41413101 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NC_000023.11:g.41506506_41542250del deletion Congenital cerebellar hypoplasia [RCV001003867] ChrX:41365759..41401503 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.761G>A (p.Arg254His) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001308141]|not specified [RCV000714883] ChrX:41660509 [GRCh38]
ChrX:41519762 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2014A>G (p.Ile672Val) single nucleotide variant History of neurodevelopmental disorder [RCV000717560] ChrX:41553744 [GRCh38]
ChrX:41412997 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000720151] ChrX:41626682 [GRCh38]
ChrX:41485935 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.546A>T (p.Thr182=) single nucleotide variant History of neurodevelopmental disorder [RCV000720613] ChrX:41665439 [GRCh38]
ChrX:41524692 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.2670C>T (p.Phe890=) single nucleotide variant History of neurodevelopmental disorder [RCV000720863]|not provided [RCV000936849] ChrX:41520531 [GRCh38]
ChrX:41379784 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001367721.1(CASK):c.582G>A (p.Glu194=) single nucleotide variant History of neurodevelopmental disorder [RCV000719529] ChrX:41665403 [GRCh38]
ChrX:41524656 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.195C>T (p.Ile65=) single nucleotide variant History of neurodevelopmental disorder [RCV000719819] ChrX:41787261 [GRCh38]
ChrX:41646514 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000720774]|Mental retardation, CASK-related, X-linked [RCV001246095] ChrX:41531057 [GRCh38]
ChrX:41390310 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) single nucleotide variant History of neurodevelopmental disorder [RCV000720624]|not provided [RCV000939411] ChrX:41534957 [GRCh38]
ChrX:41394210 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000758008] ChrX:41523994 [GRCh38]
ChrX:41383247 [GRCh37]
ChrX:Xp11.4
likely pathogenic
Single allele deletion Global developmental delay [RCV001003868] ChrX:41458916..41537987 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp11.4(chrX:41374397-41908956)x3 copy number gain not provided [RCV000753519] ChrX:41374397..41908956 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp11.4(chrX:41533814-41653441)x1 copy number loss not provided [RCV000753520] ChrX:41533814..41653441 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:41690431-42036102)x2 copy number gain not provided [RCV000753521] ChrX:41690431..42036102 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001367721.1(CASK):c.1160A>G (p.Tyr387Cys) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001052536] ChrX:41589588 [GRCh38]
ChrX:41448841 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.578G>T (p.Arg193Ile) single nucleotide variant not provided [RCV000762626] ChrX:41665407 [GRCh38]
ChrX:41524660 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2414G>A (p.Ser805Asn) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990796] ChrX:41531098 [GRCh38]
ChrX:41390351 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
NM_003688.3(CASK):c.771G>A (p.Leu257=) single nucleotide variant not provided [RCV000942018] ChrX:41660499 [GRCh38]
ChrX:41519752 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.1669-7C>A single nucleotide variant not provided [RCV000945292] ChrX:41559854 [GRCh38]
ChrX:41419107 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.2506-10_2506-8del deletion not provided [RCV000926338] ChrX:41524042..41524044 [GRCh38]
ChrX:41383295..41383297 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.916-6dup duplication not provided [RCV000976111] ChrX:41626705..41626706 [GRCh38]
ChrX:41485958..41485959 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.390C>T (p.Arg130=) single nucleotide variant not provided [RCV000943647] ChrX:41739423 [GRCh38]
ChrX:41598676 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.408C>T (p.Asn136=) single nucleotide variant not provided [RCV000982913] ChrX:41739405 [GRCh38]
ChrX:41598658 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.2043A>T (p.Arg681=) single nucleotide variant not provided [RCV000875968] ChrX:41542803 [GRCh38]
ChrX:41402056 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.(?_41520400)_(41665472_?)dup duplication Mental retardation, CASK-related, X-linked [RCV001033275] ChrX:41379653..41524725 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.493G>A (p.Val165Ile) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001050347] ChrX:41671467 [GRCh38]
ChrX:41530720 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1 copy number loss not provided [RCV000996089] ChrX:41646431..41646536 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2156-1G>A single nucleotide variant Congenital cerebellar hypoplasia [RCV001257955]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000779656] ChrX:41534974 [GRCh38]
ChrX:41394227 [GRCh37]
ChrX:Xp11.4
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_003688.3(CASK):c.2016T>C (p.Ile672=) single nucleotide variant not provided [RCV000939126] ChrX:41553742 [GRCh38]
ChrX:41412995 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.273C>T (p.Phe91=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000917401] ChrX:41787183 [GRCh38]
ChrX:41646436 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.132T>C (p.Asp44=) single nucleotide variant not provided [RCV000940221] ChrX:41853155 [GRCh38]
ChrX:41712408 [GRCh37]
ChrX:Xp11.4
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_003688.3(CASK):c.432C>T (p.Pro144=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000950925] ChrX:41671528 [GRCh38]
ChrX:41530781 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.2394C>T (p.Asn798=) single nucleotide variant not provided [RCV000941220] ChrX:41531118 [GRCh38]
ChrX:41390371 [GRCh37]
ChrX:Xp11.4
benign
NM_001097579.2(GPR34):c.888A>G (p.Val296=) single nucleotide variant not provided [RCV000886043] ChrX:41696521 [GRCh38]
ChrX:41555774 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.533-2A>G single nucleotide variant Congenital cerebellar hypoplasia [RCV001257981]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000779657] ChrX:41665454 [GRCh38]
ChrX:41524707 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) duplication Congenital cerebellar hypoplasia [RCV001257980]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000779658] ChrX:41542725..41542726 [GRCh38]
ChrX:41401978..41401979 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001367721.1(CASK):c.1233+273C>A single nucleotide variant not provided [RCV000827817] ChrX:41589242 [GRCh38]
ChrX:41448495 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.2719C>T (p.Leu907Phe) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000815819] ChrX:41520467 [GRCh38]
ChrX:41379720 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2039+243A>G single nucleotide variant not provided [RCV000839822] ChrX:41553476 [GRCh38]
ChrX:41412729 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.2318-251A>C single nucleotide variant not provided [RCV000826835] ChrX:41531460 [GRCh38]
ChrX:41390713 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.2604+7A>C single nucleotide variant not provided [RCV000827358] ChrX:41523944 [GRCh38]
ChrX:41383197 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001367721.1(CASK):c.1368A>G (p.Ala456=) single nucleotide variant not provided [RCV000841250] ChrX:41578475 [GRCh38]
ChrX:41437728 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001367721.1(CASK):c.532+114C>A single nucleotide variant not provided [RCV000836417] ChrX:41671314 [GRCh38]
ChrX:41530567 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.533-99_533-84del deletion not provided [RCV000829595] ChrX:41665536..41665551 [GRCh38]
ChrX:41524789..41524804 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_003688.3(CASK):c.2665A>G (p.Ile889Val) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000820175] ChrX:41520521 [GRCh38]
ChrX:41379774 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.824G>A (p.Trp275Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000791046] ChrX:41660446 [GRCh38]
ChrX:41519699 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001367721.1(CASK):c.279-107C>A single nucleotide variant not provided [RCV000841224] ChrX:41745708 [GRCh38]
ChrX:41604961 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.534A>G (p.Gly178=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV000981365] ChrX:41665451 [GRCh38]
ChrX:41524704 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.(?_41853095)_(41853247_?)del deletion Mental retardation, CASK-related, X-linked [RCV000809318] ChrX:41853095..41853247 [GRCh38]
ChrX:41712348..41712500 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:41439326-41538706)x3 copy number gain not provided [RCV000846510] ChrX:41439326..41538706 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1997dup (p.Asn666fs) duplication Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001028096] ChrX:41553760..41553761 [GRCh38]
ChrX:41413013..41413014 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4(chrX:41708911-41713656)x1 copy number loss not provided [RCV000846177] ChrX:41708911..41713656 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.1385_1394del (p.Pro462fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990799] ChrX:41578449..41578458 [GRCh38]
ChrX:41437702..41437711 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.774_780del (p.Met258fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990802] ChrX:41660490..41660496 [GRCh38]
ChrX:41519743..41519749 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) duplication Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000850537] ChrX:41636578..41636579 [GRCh38]
ChrX:41495831..41495832 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) single nucleotide variant FG syndrome 4 [RCV001253354]|not provided [RCV000999405] ChrX:41578377 [GRCh38]
ChrX:41437630 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.985C>A (p.Pro329Thr) single nucleotide variant not provided [RCV000999406] ChrX:41626634 [GRCh38]
ChrX:41485887 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1843-2A>T single nucleotide variant not provided [RCV001172205] ChrX:41553917 [GRCh38]
ChrX:41413170 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.661G>A (p.Gly221Arg) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001240246] ChrX:41665324 [GRCh38]
ChrX:41524577 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1578del (p.Arg526fs) deletion Mental retardation, CASK-related, X-linked [RCV001225069] ChrX:41569672 [GRCh38]
ChrX:41428925 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.2395G>A (p.Glu799Lys) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001243235] ChrX:41531117 [GRCh38]
ChrX:41390370 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1076C>T (p.Ala359Val) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001225873] ChrX:41609983 [GRCh38]
ChrX:41469236 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001367721.1(CASK):c.543_548delinsTCCTACATAAATGACGTAGGTG (p.Thr182_Pro183delinsProThrTer) indel not provided [RCV001008315] ChrX:41665437..41665442 [GRCh38]
ChrX:41524690..41524695 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1508del (p.Ile503fs) deletion not provided [RCV001093499] ChrX:41569742 [GRCh38]
ChrX:41428995 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.1686T>C (p.Ser562=) single nucleotide variant not provided [RCV000940943] ChrX:41559830 [GRCh38]
ChrX:41419083 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.612G>T (p.Gly204=) single nucleotide variant not provided [RCV000931318] ChrX:41665373 [GRCh38]
ChrX:41524626 [GRCh37]
ChrX:Xp11.4
benign
NM_003688.3(CASK):c.2574T>G (p.Thr858=) single nucleotide variant not provided [RCV000932989] ChrX:41523966 [GRCh38]
ChrX:41383219 [GRCh37]
ChrX:Xp11.4
benign
NM_001367721.1(CASK):c.2214G>T (p.Lys738Asn) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001220873] ChrX:41534915 [GRCh38]
ChrX:41394168 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.831+4C>A single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001206374] ChrX:41660435 [GRCh38]
ChrX:41519688 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1432G>A (p.Gly478Arg) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001217682] ChrX:41578411 [GRCh38]
ChrX:41437664 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.372G>A (p.Gln124=) single nucleotide variant not provided [RCV000934493] ChrX:41739441 [GRCh38]
ChrX:41598694 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.1392C>T (p.Thr464=) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001087389]|not provided [RCV000891134] ChrX:41578451 [GRCh38]
ChrX:41437704 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_003688.3(CASK):c.175C>T (p.Leu59=) single nucleotide variant not provided [RCV000935699] ChrX:41787281 [GRCh38]
ChrX:41646534 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter) single nucleotide variant not provided [RCV000999407] ChrX:41922953 [GRCh38]
ChrX:41782206 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_003688.3(CASK):c.787G>A (p.Glu263Lys) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV000990801] ChrX:41660483 [GRCh38]
ChrX:41519736 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.281_284TGGA[1] (p.Asp95fs) microsatellite not provided [RCV001008953] ChrX:41745592..41745595 [GRCh38]
ChrX:41604845..41604848 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) single nucleotide variant not provided [RCV001093498] ChrX:41531056 [GRCh38]
ChrX:41390309 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.1333G>A (p.Asp445Asn) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001067729] ChrX:41578510 [GRCh38]
ChrX:41437763 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001004925] ChrX:41553788 [GRCh38]
ChrX:41413041 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) single nucleotide variant FG syndrome 4 [RCV001332310]|Mental retardation, CASK-related, X-linked [RCV001219399] ChrX:41559802 [GRCh38]
ChrX:41419055 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2243A>G (p.His748Arg) single nucleotide variant FG syndrome 4 [RCV001196936] ChrX:41534780 [GRCh38]
ChrX:41394033 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.721C>T (p.Gln241Ter) single nucleotide variant not provided [RCV001091006] ChrX:41660549 [GRCh38]
ChrX:41519802 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_003688.3(CASK):c.359A>G (p.His120Arg) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001004663] ChrX:41739454 [GRCh38]
ChrX:41598707 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.709-3C>T single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001332312]|Mental retardation, CASK-related, X-linked [RCV001034517] ChrX:41660564 [GRCh38]
ChrX:41519817 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001367721.1(CASK):c.898G>A (p.Ala300Thr) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001206618] ChrX:41636595 [GRCh38]
ChrX:41495848 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2589+5G>A single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001202244] ChrX:41523946 [GRCh38]
ChrX:41383199 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2777A>G (p.Tyr926Cys) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001232567] ChrX:41520424 [GRCh38]
ChrX:41379677 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.916-1G>A single nucleotide variant FG syndrome 4 [RCV001195937] ChrX:41626704 [GRCh38]
ChrX:41485957 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.62G>A (p.Gly21Asp) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001232847] ChrX:41853225 [GRCh38]
ChrX:41712478 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly) single nucleotide variant not provided [RCV001093500] ChrX:41609969 [GRCh38]
ChrX:41469222 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.11:g.(?_41520400)_(41923008_?)del deletion Mental retardation, CASK-related, X-linked [RCV001032938] ChrX:41379653..41782261 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.2434G>A (p.Glu812Lys) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001214757] ChrX:41531093 [GRCh38]
ChrX:41390346 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2641T>C (p.Tyr881His) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001034504] ChrX:41520545 [GRCh38]
ChrX:41379798 [GRCh37]
ChrX:Xp11.4
likely benign
NM_003688.3(CASK):c.1256del (p.Tyr419fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001255831] ChrX:41586965 [GRCh38]
ChrX:41446218 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val) single nucleotide variant Intellectual disability [RCV001252177] ChrX:41622625 [GRCh38]
ChrX:41481878 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2621G>A (p.Arg874His) single nucleotide variant FG syndrome 4 [RCV001253441] ChrX:41520580 [GRCh38]
ChrX:41379833 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) copy number loss Microcephaly [RCV001252950] ChrX:41150139..43976458 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) single nucleotide variant Intellectual disability [RCV001260654]|Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001253349] ChrX:41665369 [GRCh38]
ChrX:41524622 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3 copy number gain not provided [RCV001258957] ChrX:41335354..41519376 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2593del (p.Glu865fs) deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001255833] ChrX:41520593 [GRCh38]
ChrX:41379846 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.290C>A (p.Ala97Glu) single nucleotide variant Inborn genetic diseases [RCV001267216] ChrX:41745590 [GRCh38]
ChrX:41604843 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) single nucleotide variant Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001332311] ChrX:41922933 [GRCh38]
ChrX:41782186 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.875_877del (p.Val292del) deletion Intellectual disability [RCV001260655] ChrX:41636616..41636618 [GRCh38]
ChrX:41495869..41495871 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.37G>T (p.Glu13Ter) single nucleotide variant not provided [RCV001268856] ChrX:41922952 [GRCh38]
ChrX:41782205 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr) single nucleotide variant not provided [RCV001268859] ChrX:41553860 [GRCh38]
ChrX:41413113 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.1579C>T (p.Gln527Ter) single nucleotide variant CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia [RCV001270856] ChrX:41569671 [GRCh38]
ChrX:41428924 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg) single nucleotide variant Intellectual disability [RCV001260653] ChrX:41671470 [GRCh38]
ChrX:41530723 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val) single nucleotide variant Intellectual disability [RCV001260656] ChrX:41531146 [GRCh38]
ChrX:41390399 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1501A>G (p.Met501Val) single nucleotide variant Intellectual disability [RCV001260871] ChrX:41578342 [GRCh38]
ChrX:41437595 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_003688.3(CASK):c.1210G>A (p.Asp404Asn) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001257208] ChrX:41589538 [GRCh38]
ChrX:41448791 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_003688.3(CASK):c.2039+1del deletion Mental retardation and microcephaly with pontine and cerebellar hypoplasia [RCV001255728] ChrX:41553718 [GRCh38]
ChrX:41412971 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001367721.1(CASK):c.434A>G (p.His145Arg) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001297652] ChrX:41671526 [GRCh38]
ChrX:41530779 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1669-7C>G single nucleotide variant not provided [RCV001288908] ChrX:41559854 [GRCh38]
ChrX:41419107 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NC_000023.10:g.(?_41379673)_(41420907_?)dup duplication Mental retardation, CASK-related, X-linked [RCV001351559] ChrX:41379673..41420907 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1453G>C (p.Val485Leu) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001316909] ChrX:41578390 [GRCh38]
ChrX:41437643 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2343C>G (p.Asp781Glu) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001312650] ChrX:41531184 [GRCh38]
ChrX:41390437 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:41553564-41696352) copy number loss Microcephaly [RCV001352653] ChrX:41553564..41696352 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001367721.1(CASK):c.356+1848A>G single nucleotide variant not provided [RCV001310711] ChrX:41743676 [GRCh38]
ChrX:41602929 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001367721.1(CASK):c.1493A>G (p.Asp498Gly) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001304210] ChrX:41578350 [GRCh38]
ChrX:41437603 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001323132] ChrX:41559789 [GRCh38]
ChrX:41419042 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2540C>T (p.Thr847Ile) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001345179] ChrX:41524015 [GRCh38]
ChrX:41383268 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1540A>G (p.Ile514Val) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001315116] ChrX:41569710 [GRCh38]
ChrX:41428963 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.1565G>T (p.Gly522Val) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001298897] ChrX:41569685 [GRCh38]
ChrX:41428938 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001367721.1(CASK):c.2358G>T (p.Lys786Asn) single nucleotide variant Mental retardation, CASK-related, X-linked [RCV001317025] ChrX:41531169 [GRCh38]
ChrX:41390422 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936) copy number loss Global developmental delay [RCV001352647] ChrX:41342834..43901936 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1497 AgrOrtholog
COSMIC CASK COSMIC
Ensembl Genes ENSG00000147044 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367396 UniProtKB/Swiss-Prot
  ENSP00000367400 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000367405 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367408 UniProtKB/TrEMBL
  ENSP00000367410 UniProtKB/TrEMBL
  ENSP00000367421 UniProtKB/TrEMBL
  ENSP00000398007 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000400526 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000493518 UniProtKB/TrEMBL
  ENSP00000493700 UniProtKB/TrEMBL
  ENSP00000494144 UniProtKB/TrEMBL
  ENSP00000494183 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494388 UniProtKB/TrEMBL
  ENSP00000494409 UniProtKB/TrEMBL
  ENSP00000494788 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495232 UniProtKB/TrEMBL
  ENSP00000495291 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000495357 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495510 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000496025 UniProtKB/TrEMBL
  ENSP00000496319 UniProtKB/TrEMBL
  ENSP00000502315 UniProtKB/TrEMBL
Ensembl Transcript ENST00000378154 UniProtKB/Swiss-Prot
  ENST00000378158 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000378163 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378166 UniProtKB/TrEMBL
  ENST00000378168 UniProtKB/TrEMBL
  ENST00000378179 UniProtKB/TrEMBL
  ENST00000421587 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000442742 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000486402 UniProtKB/TrEMBL
  ENST00000642361 UniProtKB/TrEMBL
  ENST00000643043 UniProtKB/TrEMBL
  ENST00000643733 UniProtKB/TrEMBL
  ENST00000643831 UniProtKB/TrEMBL
  ENST00000644219 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000644347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644770 UniProtKB/TrEMBL
  ENST00000645566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645986 UniProtKB/TrEMBL
  ENST00000646087 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000646120 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000647118 UniProtKB/TrEMBL
  ENST00000675354 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147044 GTEx
HGNC ID HGNC:1497 ENTREZGENE
Human Proteome Map CASK Human Proteome Map
InterPro CASK_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8573 UniProtKB/Swiss-Prot
NCBI Gene 8573 ENTREZGENE
OMIM 300172 OMIM
  300422 OMIM
  300749 OMIM
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_2 UniProtKB/TrEMBL
PharmGKB PA26081 PharmGKB
PROSITE GUANYLATE_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL