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:1497
Description: Enables 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. Located in 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
Previously 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 Orthologs
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
GRCh38X41,514,934 - 41,923,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX41,514,934 - 41,923,554 (-)EnsemblGRCh38hg38GRCh38
GRCh37X41,374,187 - 41,782,807 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,264,287 - 41,667,212 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X41,135,596 - 41,538,522NCBI
CeleraX45,516,432 - 45,924,508 (-)NCBICelera
Cytogenetic MapXp11.4NCBI
HuRefX39,105,639 - 39,513,256 (-)NCBIHuRef
CHM1_1X41,406,782 - 41,814,790 (-)NCBICHM1_1
T2T-CHM13v2.0X40,919,852 - 41,328,508 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
Butylparaben  (ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
cisplatin  (EXP)
colforsin daropate hydrochloride  (ISO)
cyclosporin A  (EXP)
deguelin  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
diethylstilbestrol  (EXP)
disodium selenite  (ISO)
enzacamene  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
FR900359  (EXP)
gallic acid  (EXP)
geldanamycin  (EXP)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
methapyrilene  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
potassium chromate  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
torcetrapib  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)

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)
Abnormality of the nervous system  (IAGP)
Abnormally large globe  (IAGP)
Absent speech  (IAGP)
Absent thumbnail  (IAGP)
Anisocytosis  (IAGP)
Anteverted nares  (IAGP)
Appendicular spasticity  (IAGP)
Atonic seizure  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Axial hypotonia  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Broad phalanx of the toes  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Congenital onset  (IAGP)
Decreased body weight  (IAGP)
Decreased glucose-6-phosphate dehydrogenase level in blood  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated fourth ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epicanthus  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (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  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Heinz bodies  (IAGP)
Hemoglobinuria  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intermittent hyperventilation  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Leukocytosis  (IAGP)
Long philtrum  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Middle age onset  (IAGP)
Muscle weakness  (IAGP)
Myoclonic seizure  (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)
Plagiocephaly  (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)
Proportionate short stature  (IAGP)
Prostate cancer  (IAGP)
Renal dysplasia  (IAGP)
Reticulocytosis  (IAGP)
Retinal coloboma  (IAGP)
Retrognathia  (IAGP)
Rigidity  (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)
Simplified gyral pattern  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Smooth philtrum  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Stereotypical hand wringing  (IAGP)
Strabismus  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Unconjugated hyperbilirubinemia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Unsteady gait  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked inheritance  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy. Dimitratos SD, etal., Genomics 1998 Jul 15;51(2):308-9.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Murine CASK is disrupted in a sex-linked cleft palate mouse mutant. Laverty HG and Wilson JB, Genomics. 1998 Oct 1;53(1):29-41.
4. Traumatic brain injury dysregulates microRNAs to modulate cell signaling in rat hippocampus. Liu L, etal., PLoS One. 2014 Aug 4;9(8):e103948. doi: 10.1371/journal.pone.0103948. eCollection 2014.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. A missense mutation in CASK causes FG syndrome in an Italian family. Piluso G, etal., Am J Hum Genet. 2009 Feb;84(2):162-77. doi: 10.1016/j.ajhg.2008.12.018. Epub 2009 Feb 5.
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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:21873635   PMID:21954287   PMID:21988832  
PMID:22119785   PMID:22153505   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:31871319   PMID:31995728   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32460013   PMID:32477353  
PMID:32513696   PMID:32707033   PMID:32780723   PMID:32877691   PMID:33001583   PMID:33090494   PMID:33113509   PMID:33548214   PMID:33629417   PMID:33640666   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34133460   PMID:34159380   PMID:34639058   PMID:34709727   PMID:35013218   PMID:35241646   PMID:35271311   PMID:35281599   PMID:35384245   PMID:35670295   PMID:35844135  
PMID:35914814   PMID:36012204   PMID:36114006   PMID:36147463   PMID:36168867   PMID:36215168   PMID:36217030   PMID:36634849   PMID:36754160   PMID:36976175   PMID:37468549   PMID:37628707  
PMID:37827155   PMID:38113892   PMID:38117590   PMID:38670634   PMID:38697112   PMID:38803224   PMID:39009827  


Genomics

Comparative Map Data
CASK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X41,514,934 - 41,923,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX41,514,934 - 41,923,554 (-)EnsemblGRCh38hg38GRCh38
GRCh37X41,374,187 - 41,782,807 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,264,287 - 41,667,212 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X41,135,596 - 41,538,522NCBI
CeleraX45,516,432 - 45,924,508 (-)NCBICelera
Cytogenetic MapXp11.4NCBI
HuRefX39,105,639 - 39,513,256 (-)NCBIHuRef
CHM1_1X41,406,782 - 41,814,790 (-)NCBICHM1_1
T2T-CHM13v2.0X40,919,852 - 41,328,508 (-)NCBIT2T-CHM13v2.0
Cask
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X13,383,319 - 13,713,020 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX13,383,319 - 13,717,606 (-)EnsemblGRCm39 Ensembl
GRCm38X13,517,080 - 13,846,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX13,517,080 - 13,851,367 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X13,094,206 - 13,423,667 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X12,678,006 - 13,003,515 (-)NCBIMGSCv36mm8
MGSCv36X10,595,356 - 10,921,350 (-)NCBIMGSCv36mm8
CeleraX11,186,392 - 11,514,710 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX8.43NCBI
Cask
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X11,572,328 - 11,915,831 (+)NCBIGRCr8
mRatBN7.2X8,899,500 - 9,243,014 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX8,899,833 - 9,238,694 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX9,082,098 - 9,422,591 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X12,579,235 - 12,919,741 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X8,846,509 - 9,191,254 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X9,815,652 - 10,156,155 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX9,815,652 - 10,156,155 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX9,436,707 - 9,467,884 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X10,614,514 - 10,954,635 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X20,910,960 - 21,250,869 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X43,166,165 - 43,573,471 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X43,173,793 - 43,576,833 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X33,967,329 - 34,374,385 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X41,659,295 - 42,066,570 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX41,659,295 - 42,066,570 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X35,992,809 - 36,371,502 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX35,990,986 - 36,371,431 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X36,067,274 - 36,417,597 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X36,039,464 - 36,395,455 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X36,082,753 - 36,433,406 (-)NCBIUU_Cfam_GSD_1.0
Cask
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X28,092,601 - 28,440,781 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365027,937,146 - 8,281,492 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X38,704,623 - 39,121,309 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660763,886,383 - 4,287,654 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cask
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476213,722,691 - 14,106,844 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476213,723,347 - 14,106,844 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASK
680 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) single nucleotide variant Inborn genetic diseases [RCV002316565]|Intellectual disability, CASK-related, X-linked [RCV000551457]|not provided [RCV001551811] ChrX:41578432 [GRCh38]
ChrX:41437685 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu) single nucleotide variant Intellectual disability [RCV001526625] ChrX:41671473 [GRCh38]
ChrX:41530726 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) single nucleotide variant FG syndrome 4 [RCV000022829]|Syndromic X-linked intellectual disability Najm type [RCV000193589]|not provided [RCV004700270] ChrX:41534946 [GRCh38]
ChrX:41394199 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2521-2A>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 Syndromic X-linked intellectual disability Najm type [RCV000022831]|not provided [RCV000522520] ChrX:41745564 [GRCh38]
ChrX:41604817 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.11:g.(41853228_41922929)_(41923555_?)del deletion Syndromic X-linked intellectual disability Najm type [RCV000022832] ChrX:41922929..41923555 [GRCh38]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000022833] ChrX:41561588 [GRCh38]
ChrX:41420841 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs) deletion Syndromic X-linked intellectual disability Najm type [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 CASK-related disorder [RCV004538030]|Inborn genetic diseases [RCV002316566]|Intellectual disability, CASK-related, X-linked [RCV000553027]|not provided [RCV001584309] ChrX:41534954 [GRCh38]
ChrX:41394207 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) single nucleotide variant FG syndrome 4 [RCV000012292]|Inborn genetic diseases [RCV002326675]|Intellectual disability, CASK-related, X-linked [RCV001086366]|Syndromic X-linked intellectual disability Najm type [RCV000990800]|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 Syndromic X-linked intellectual disability Najm type [RCV000012286]|not provided [RCV000255325] ChrX:41553843 [GRCh38]
ChrX:41413096 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.915G>A (p.Lys305=) single nucleotide variant Syndromic X-linked intellectual disability Najm type [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]|Intellectual disability, CASK-related, X-linked [RCV002512982]|not provided [RCV003313028] ChrX:41660468 [GRCh38]
ChrX:41519721 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic|uncertain significance
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) single nucleotide variant FG syndrome 4 [RCV000012290]|Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.2588C>T (p.Thr863Ile) single nucleotide variant Intellectual disability, 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 Xp11.4-11.3(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 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 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_001367721.1(CASK):c.1034-6C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000550250]|not provided [RCV001573971]|not specified [RCV000080346] ChrX:41610031 [GRCh38]
ChrX:41469284 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) single nucleotide variant CASK-related disorder [RCV004542771]|Inborn genetic diseases [RCV002408606]|Intellectual disability, CASK-related, X-linked [RCV000552953]|not provided [RCV001610366]|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 Intellectual disability, CASK-related, X-linked [RCV001854417]|not provided [RCV000080348] ChrX:41534706 [GRCh38]
ChrX:41393959 [GRCh37]
ChrX:Xp11.4		 benign|uncertain significance
NM_001367721.1(CASK):c.356+6T>C single nucleotide variant Intellectual disability, 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 Inborn genetic diseases [RCV002313769]|Intellectual disability, CASK-related, X-linked [RCV000559350]|not provided [RCV001711370]|not specified [RCV000080350] ChrX:41739450 [GRCh38]
ChrX:41598703 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001253169] ChrX:41660545 [GRCh38]
ChrX:41519798 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1504-6dup duplication Intellectual disability, 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 CASK-related disorder [RCV004539609]|Inborn genetic diseases [RCV002313031]|Intellectual disability, 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.2486A>G (p.Gln829Arg) single nucleotide variant Inborn genetic diseases [RCV000190700] ChrX:41531041 [GRCh38]
ChrX:41390294 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|uncertain significance
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 Intellectual disability, CASK-related, X-linked [RCV001424085]|not provided [RCV000174884] ChrX:41578424 [GRCh38]
ChrX:41437677 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1234-22G>A single nucleotide variant not provided [RCV001711586]|not specified [RCV000145391] ChrX:41587009 [GRCh38]
ChrX:41446262 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.1234-30G>A single nucleotide variant not provided [RCV001536418]|not specified [RCV000145392] ChrX:41587017 [GRCh38]
ChrX:41446270 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) deletion Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [RCV000145395] ChrX:41553719 [GRCh38]
ChrX:41412972 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2040-9A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000540540]|not provided [RCV004703418]|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 Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [RCV000145398] ChrX:41542772 [GRCh38]
ChrX:41402025 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) deletion Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [RCV000145402] ChrX:41531042 [GRCh38]
ChrX:41390295 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.429+11419A>G single nucleotide variant not provided [RCV004713373]|not specified [RCV000145404] ChrX:41727965 [GRCh38]
ChrX:41587218 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.430-2A>T single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000145406] ChrX:41671532 [GRCh38]
ChrX:41530785 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000145409] ChrX:41665368 [GRCh38]
ChrX:41524621 [GRCh37]
ChrX:Xp11.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.708+1G>A single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000145411] ChrX:41665276 [GRCh38]
ChrX:41524529 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.764G>A (p.Arg255His) single nucleotide variant FG syndrome 4 [RCV002247536]|Intellectual disability, CASK-related, X-linked [RCV003764883]|Syndromic X-linked intellectual disability Najm type [RCV000145413]|not provided [RCV000494524] ChrX:41660506 [GRCh38]
ChrX:41519759 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) single nucleotide variant FG syndrome 4 [RCV002250574]|Inborn genetic diseases [RCV002426701]|Intellectual disability, CASK-related, X-linked [RCV001857501]|Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [RCV000145393] ChrX:41586952 [GRCh38]
ChrX:41446205 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2442G>A (p.Ala814=) single nucleotide variant CASK-related disorder [RCV004532640]|Inborn genetic diseases [RCV002312960]|Intellectual disability, CASK-related, X-linked [RCV000646777]|not provided [RCV001668282]|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 Intellectual disability, CASK-related, X-linked [RCV001518755]|not provided [RCV003436956]|not specified [RCV000145407] ChrX:41665385 [GRCh38]
ChrX:41524638 [GRCh37]
ChrX:Xp11.4		 benign|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 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
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 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 Xp22.33-11.22(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_001367721.1(CASK):c.1976G>A (p.Gly659Asp) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000157068] ChrX:41553782 [GRCh38]
ChrX:41413035 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) single nucleotide variant Inborn genetic diseases [RCV002408679]|Intellectual disability, CASK-related, X-linked [RCV001086643]|not provided [RCV000723901] 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 CASK-related disorder [RCV004544391]|Inborn genetic diseases [RCV002312986]|Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV001850087]|not provided [RCV000173304] ChrX:41922934 [GRCh38]
ChrX:41782187 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|conflicting interpretations of pathogenicity|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		 conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001512424]|not specified [RCV000192500] ChrX:41531202 [GRCh38]
ChrX:41390455 [GRCh37]
ChrX:Xp11.4		 benign|uncertain significance
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) single nucleotide variant Inborn genetic diseases [RCV002311290]|Intellectual disability, CASK-related, X-linked [RCV000946229]|not provided [RCV001610509]|not specified [RCV000192552] ChrX:41553739 [GRCh38]
ChrX:41412992 [GRCh37]
ChrX:Xp11.4		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.1125C>T (p.Phe375=) single nucleotide variant CASK-related disorder [RCV004541236]|Inborn genetic diseases [RCV002314792]|Intellectual disability, 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 butyrylcholinesterase [RCV000509534]|Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.1439T>A (p.Met480Lys) single nucleotide variant not provided [RCV001765656] ChrX:41578404 [GRCh38]
ChrX:41437657 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.429+4del deletion not specified [RCV000192979] ChrX:41739380 [GRCh38]
ChrX:41598633 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(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 Syndromic X-linked intellectual disability Najm type [RCV000194542] ChrX:41553777 [GRCh38]
ChrX:41413030 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs) microsatellite Syndromic X-linked intellectual disability Najm type [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 CASK-related disorder [RCV004541304]|Inborn genetic diseases [RCV000210732]|Intellectual disability, CASK-related, X-linked [RCV000872510]|not provided [RCV001618347] ChrX:41586932 [GRCh38]
ChrX:41446185 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|uncertain significance
NM_001367721.1(CASK):c.1669-6dup duplication Intellectual disability, CASK-related, X-linked [RCV001088617]|not provided [RCV000540173]|not specified [RCV001821563] 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 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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000620583] ChrX:41853178 [GRCh38]
ChrX:41712431 [GRCh37]
ChrX:Xp11.4		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_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_001367721.1(CASK):c.344A>T (p.Glu115Val) single nucleotide variant Intellectual disability, 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_001367721.1(CASK):c.1669-9C>A single nucleotide variant CASK-related disorder [RCV004543033]|Intellectual disability, CASK-related, X-linked [RCV000920192]|not provided [RCV001712002]|not specified [RCV000285805] ChrX:41559856 [GRCh38]
ChrX:41419109 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001367721.1(CASK):c.1315-10A>G single nucleotide variant Intellectual disability, 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_001367721.1(CASK):c.2317+9T>C single nucleotide variant CASK-related disorder [RCV004535397]|Intellectual disability, CASK-related, X-linked [RCV001088165]|not provided [RCV000261997] ChrX:41534697 [GRCh38]
ChrX:41393950 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) single nucleotide variant CASK-related disorder [RCV004734921]|Inborn genetic diseases [RCV002446518]|Intellectual disability, CASK-related, X-linked [RCV001087320]|not provided [RCV000514589]|not specified [RCV001820814] 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 Inborn genetic diseases [RCV002313997]|Intellectual disability, CASK-related, X-linked [RCV001238872]|not provided [RCV000369557] ChrX:41578453 [GRCh38]
ChrX:41437706 [GRCh37]
ChrX:Xp11.4		 conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.2521-11T>C single nucleotide variant not provided [RCV001544872] ChrX:41524045 [GRCh38]
ChrX:41383298 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala) single nucleotide variant not provided [RCV001767152] ChrX:41520458 [GRCh38]
ChrX:41379711 [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
NC_000023.10:g.(?_41387096)_(41396627_?)del deletion FG syndrome 4 [RCV002286875] ChrX:41387096..41396627 [GRCh37]
ChrX:Xp11.4		 pathogenic
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 Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV001409666]|not provided [RCV000597422] ChrX:41589524 [GRCh38]
ChrX:41448777 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001437833]|not provided [RCV000593897] ChrX:41589533 [GRCh38]
ChrX:41448786 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001809679]|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 Syndromic X-linked intellectual disability Najm type [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 CASK-related disorder [RCV004543388]|Intellectual disability, CASK-related, X-linked [RCV001514602]|not provided [RCV000597316] ChrX:41559855 [GRCh38]
ChrX:41419108 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|uncertain significance
NM_001367721.1(CASK):c.1503+18G>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002065250]|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 Syndromic X-linked intellectual disability Najm type [RCV000415496] ChrX:Xp11.4 pathogenic
NM_001367721.1(CASK):c.42G>C (p.Leu14=) single nucleotide variant Intellectual disability, 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 Inborn genetic diseases [RCV002388371]|Intellectual disability, CASK-related, X-linked [RCV002067137]|not provided [RCV000732821] ChrX:41578337 [GRCh38]
ChrX:41437590 [GRCh37]
ChrX:Xp11.4		 benign|likely benign|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 Xp22.33-11.21(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
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 Intellectual disability, CASK-related, X-linked [RCV002065010]|not provided [RCV004713960]|not specified [RCV000434776] ChrX:41553704 [GRCh38]
ChrX:41412957 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2433C>T (p.His811=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000546336]|not provided [RCV001704446]|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]|Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV002522568]|not specified [RCV000437501] ChrX:41578325 [GRCh38]
ChrX:41437578 [GRCh37]
ChrX:Xp11.4		 benign|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: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 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_001367721.1(CASK):c.1837C>T (p.Arg613Ter) single nucleotide variant FG syndrome 4 [RCV002281574]|Intellectual disability, CASK-related, X-linked [RCV002525756]|Syndromic X-linked intellectual disability Najm type [RCV000502316]|not provided [RCV000481042] ChrX:41555605 [GRCh38]
ChrX:41414858 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2191GTA[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 provided [RCV002259342]|not specified [RCV002265779] 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 Intellectual disability, CASK-related, X-linked [RCV000685120]|not provided [RCV000483810]|not specified [RCV003323565] ChrX:41671436 [GRCh38]
ChrX:41530689 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.430-27_430-20del microsatellite Intellectual disability, CASK-related, X-linked [RCV002056803]|not specified [RCV000484120] ChrX:41671550..41671557 [GRCh38]
ChrX:41530803..41530810 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
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.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.1586C>A (p.Thr529Lys) single nucleotide variant not provided [RCV000486489] ChrX:41561641 [GRCh38]
ChrX:41420894 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|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 Intellectual disability, CASK-related, X-linked [RCV002056749]|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 Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.68del (p.Phe23fs) deletion Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.2604+1G>T single nucleotide variant Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.846C>G (p.Tyr282Ter) single nucleotide variant Inborn genetic diseases [RCV004601188]|Syndromic X-linked intellectual disability Najm type [RCV000502372]|Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [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 Syndromic X-linked intellectual disability Najm type [RCV000500609]|not provided [RCV002305496] ChrX:41553894 [GRCh38]
ChrX:41413147 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000878294]|not provided [RCV002056840]|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
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) single nucleotide variant Congenital cerebellar hypoplasia [RCV001257954]|Syndromic X-linked intellectual disability Najm type [RCV000175755]|not provided [RCV000723984] ChrX:41853208 [GRCh38]
ChrX:41712461 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) single nucleotide variant Intellectual disability, 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 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-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
NM_001367721.1(CASK):c.2521-2A>G single nucleotide variant Dystonic disorder [RCV000626851]|FG syndrome 4 [RCV003227734]|not provided [RCV000255115] ChrX:41524036 [GRCh38]
ChrX:41383289 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2318-2A>G single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000198342] ChrX:41531211 [GRCh38]
ChrX:41390464 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.708+2dup duplication not provided [RCV003314991] ChrX:41665274..41665275 [GRCh38]
ChrX:41524527..41524528 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.1521G>T (p.Met507Ile) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002525834]|not provided [RCV000484373] ChrX:41569729 [GRCh38]
ChrX:41428982 [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_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
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_001367721.1(CASK):c.1465C>T (p.Arg489Trp) single nucleotide variant CASK-related disorder [RCV000844926]|Smith-Magenis Syndrome-like [RCV000491353]|Syndromic X-linked intellectual disability Najm type [RCV000990798]|not provided [RCV002518555] 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 Intellectual disability, CASK-related, X-linked [RCV001417959]|not specified [RCV000603047] ChrX:41626614 [GRCh38]
ChrX:41485867 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1315-7A>G single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000618602] ChrX:41578535 [GRCh38]
ChrX:41437788 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2589T>A (p.Thr863=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000530774] ChrX:41523966 [GRCh38]
ChrX:41383219 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.59+9C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000535378] ChrX:41922921 [GRCh38]
ChrX:41782174 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs) insertion not provided [RCV003318117] ChrX:41520424..41520425 [GRCh38]
ChrX:41379677..41379678 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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 Intellectual disability, CASK-related, X-linked [RCV002064246]|not specified [RCV000615315] ChrX:41542823 [GRCh38]
ChrX:41402076 [GRCh37]
ChrX:Xp11.4		 benign|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_001367721.1(CASK):c.2317+1G>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001226408]|Syndromic X-linked intellectual disability Najm type [RCV000618847]|not provided [RCV001571951] ChrX:41534705 [GRCh38]
ChrX:41393958 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.430-18G>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002065345]|not specified [RCV000616918] ChrX:41671548 [GRCh38]
ChrX:41530801 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.1592A>C (p.His531Pro) single nucleotide variant Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV002065344]|not specified [RCV000609388] ChrX:41586919 [GRCh38]
ChrX:41446172 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000646772]|Seizure [RCV002275111]|not provided [RCV003437365] ChrX:41578435 [GRCh38]
ChrX:41437688 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1777G>C (p.Gly593Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000646773] ChrX:41557061 [GRCh38]
ChrX:41416314 [GRCh37]
ChrX:Xp11.4		 benign|uncertain significance
NM_001367721.1(CASK):c.2155+4G>A single nucleotide variant CASK-related disorder [RCV004527707]|Intellectual disability, CASK-related, X-linked [RCV000646774] ChrX:41542687 [GRCh38]
ChrX:41401940 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1669-6C>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001443541] ChrX:41559853 [GRCh38]
ChrX:41419106 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Intellectual disability, CASK-related, X-linked [RCV003117447]|Syndromic X-linked intellectual disability 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 Syndromic X-linked intellectual disability Najm type [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.1556T>C (p.Met519Thr) single nucleotide variant Inborn genetic diseases [RCV000622948] ChrX:41569694 [GRCh38]
ChrX:41428947 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(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 Inborn genetic diseases [RCV002312354] 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 Intellectual disability, 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 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 Intellectual disability, CASK-related, X-linked [RCV000706774] ChrX:41555606 [GRCh38]
ChrX:41414859 [GRCh37]
ChrX:Xp11.4		 likely benign|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_001367721.1(CASK):c.305A>G (p.Glu102Gly) single nucleotide variant FG syndrome 4 [RCV002470957]|Intellectual disability, CASK-related, X-linked [RCV000697924] ChrX:41745575 [GRCh38]
ChrX:41604828 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001367721.1(CASK):c.1436A>G (p.Asp479Gly) single nucleotide variant Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV000691765]|Syndromic X-linked intellectual disability Najm type [RCV001788328]|not provided [RCV001268340] ChrX:41561583..41561586 [GRCh38]
ChrX:41420836..41420839 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2227G>C (p.Val743Leu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000703475] ChrX:41534902 [GRCh38]
ChrX:41394155 [GRCh37]
ChrX:Xp11.4		 benign|uncertain significance
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000703484]|Syndromic X-linked intellectual disability Najm type [RCV001004916] ChrX:41553848 [GRCh38]
ChrX:41413101 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|uncertain significance
NM_001367721.1(CASK):c.761G>A (p.Arg254His) single nucleotide variant FG syndrome 4 [RCV004760753]|Intellectual disability, 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 Inborn genetic diseases [RCV002313462]|not provided [RCV002259366] ChrX:41553744 [GRCh38]
ChrX:41412997 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.937T>A (p.Ser313Thr) single nucleotide variant Inborn genetic diseases [RCV002317548]|Intellectual disability, CASK-related, X-linked [RCV001862074] ChrX:41626682 [GRCh38]
ChrX:41485935 [GRCh37]
ChrX:Xp11.4		 benign|uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-11.22(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 Inborn genetic diseases [RCV002316730]|Intellectual disability, CASK-related, X-linked [RCV001489905] ChrX:41665403 [GRCh38]
ChrX:41524656 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.195C>T (p.Ile65=) single nucleotide variant Inborn genetic diseases [RCV002316885]|Intellectual disability, CASK-related, X-linked [RCV001519269]|not provided [RCV001700297] ChrX:41787261 [GRCh38]
ChrX:41646514 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) single nucleotide variant Inborn genetic diseases [RCV002318307]|Intellectual disability, CASK-related, X-linked [RCV001246095]|not provided [RCV001592926] ChrX:41531057 [GRCh38]
ChrX:41390310 [GRCh37]
ChrX:Xp11.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) single nucleotide variant CASK-related disorder [RCV004535799]|Inborn genetic diseases [RCV002318228]|Intellectual disability, CASK-related, X-linked [RCV001523666] ChrX:41534957 [GRCh38]
ChrX:41394210 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.2155+267A>G single nucleotide variant not provided [RCV001574145] ChrX:41542424 [GRCh38]
ChrX:41401677 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000758008] ChrX:41523994 [GRCh38]
ChrX:41383247 [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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.831+29A>G single nucleotide variant not provided [RCV001583467] ChrX:41660410 [GRCh38]
ChrX:41519663 [GRCh37]
ChrX:Xp11.4		 likely benign
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 Intellectual disability, CASK-related, X-linked [RCV001052536] ChrX:41589588 [GRCh38]
ChrX:41448841 [GRCh37]
ChrX:Xp11.4		 benign|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_001367721.1(CASK):c.2429G>A (p.Ser810Asn) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000990796] ChrX:41531098 [GRCh38]
ChrX:41390351 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic|uncertain significance
NM_001367721.1(CASK):c.2156-40T>A single nucleotide variant not provided [RCV001570609] ChrX:41535013 [GRCh38]
ChrX:41394266 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2318-47C>G single nucleotide variant not provided [RCV001547625] ChrX:41531256 [GRCh38]
ChrX:41390509 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1587A>G (p.Thr529=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001992305] ChrX:41561640 [GRCh38]
ChrX:41420893 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1234-258C>G single nucleotide variant not provided [RCV001648538] ChrX:41587245 [GRCh38]
ChrX:41446498 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.771G>A (p.Leu257=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001416240] ChrX:41660499 [GRCh38]
ChrX:41519752 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1669-7C>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002066220] ChrX:41559854 [GRCh38]
ChrX:41419107 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.916-3dup duplication Intellectual disability, CASK-related, X-linked [RCV001514261] ChrX:41626705..41626706 [GRCh38]
ChrX:41485958..41485959 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.390C>T (p.Arg130=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001442697] ChrX:41739423 [GRCh38]
ChrX:41598676 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.408C>T (p.Asn136=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001436877] ChrX:41739405 [GRCh38]
ChrX:41598658 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2043A>T (p.Arg681=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001473205] ChrX:41542803 [GRCh38]
ChrX:41402056 [GRCh37]
ChrX:Xp11.4		 likely benign
NC_000023.11:g.(?_41520400)_(41665472_?)dup duplication Intellectual disability, 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 Intellectual disability, 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]|Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.2016T>C (p.Ile672=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001418446] ChrX:41553742 [GRCh38]
ChrX:41412995 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.273C>T (p.Phe91=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000917401] ChrX:41787183 [GRCh38]
ChrX:41646436 [GRCh37]
ChrX:Xp11.4		 benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_001367721.1(CASK):c.432C>T (p.Pro144=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000950925]|not provided [RCV001593143] ChrX:41671528 [GRCh38]
ChrX:41530781 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.2409C>T (p.Asn803=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001513647]|not provided [RCV000941220] ChrX:41531118 [GRCh38]
ChrX:41390371 [GRCh37]
ChrX:Xp11.4		 benign|likely 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]|Syndromic X-linked intellectual disability Najm type [RCV000779657]|not provided [RCV004721592] 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]|Syndromic X-linked intellectual disability Najm type [RCV000779658] ChrX:41542725..41542726 [GRCh38]
ChrX:41401978..41401979 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
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 Intellectual disability, CASK-related, X-linked [RCV002536128]|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]|not specified [RCV004594130] 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_001367721.1(CASK):c.2680A>G (p.Ile894Val) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000820175] ChrX:41520521 [GRCh38]
ChrX:41379774 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.534A>G (p.Gly178=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000981365] ChrX:41665451 [GRCh38]
ChrX:41524704 [GRCh37]
ChrX:Xp11.4		 likely benign
NC_000023.11:g.(?_41853095)_(41853247_?)del deletion Intellectual disability, 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_001367721.1(CASK):c.1997dup (p.Asn666fs) duplication Syndromic X-linked intellectual disability Najm type [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_001367721.1(CASK):c.913_914dup (p.Gly306fs) duplication Syndromic X-linked intellectual disability Najm type [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 Abnormality of the nervous system [RCV001814250]|FG syndrome 4 [RCV001253354]|Intellectual disability, CASK-related, X-linked [RCV003624437]|not provided [RCV000999405] ChrX:41578377 [GRCh38]
ChrX:41437630 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
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.1504-252_1504-243del microsatellite not provided [RCV001544793] ChrX:41569989..41569998 [GRCh38]
ChrX:41429242..41429251 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.661G>A (p.Gly221Arg) single nucleotide variant Inborn genetic diseases [RCV002375269]|Intellectual disability, CASK-related, X-linked [RCV001240246] ChrX:41665324 [GRCh38]
ChrX:41524577 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1578del (p.Arg526fs) deletion Intellectual disability, CASK-related, X-linked [RCV001225069] ChrX:41569672 [GRCh38]
ChrX:41428925 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) single nucleotide variant Inborn genetic diseases [RCV004034745]|Intellectual disability, CASK-related, X-linked [RCV001243235]|not provided [RCV002473240] ChrX:41531117 [GRCh38]
ChrX:41390370 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1076C>T (p.Ala359Val) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001225873] ChrX:41609983 [GRCh38]
ChrX:41469236 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_080817.5(GPR82):c.860T>C (p.Leu287Ser) single nucleotide variant not specified [RCV004321341] ChrX:41727886 [GRCh38]
ChrX:41587139 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1270G>A (p.Asp424Asn) single nucleotide variant not provided [RCV003313460] ChrX:41586951 [GRCh38]
ChrX:41446204 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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.497C>A (p.Ala166Asp) single nucleotide variant Developmental disorder [RCV003127303] ChrX:41671463 [GRCh38]
ChrX:41530716 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2039+14C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003104736] ChrX:41553705 [GRCh38]
ChrX:41412958 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.532+13T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003106624]|not specified [RCV003994522] ChrX:41671415 [GRCh38]
ChrX:41530668 [GRCh37]
ChrX:Xp11.4		 likely benign
NC_000023.10:g.(?_39911362)_(41782241_?)dup duplication not provided [RCV003105644] ChrX:39911362..41782241 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_39911362)_(41782241_?)del deletion Syndromic X-linked intellectual disability Hedera type [RCV003122552]|not provided [RCV003105645] ChrX:39911362..41782241 [GRCh37]
ChrX:Xp11.4		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001367721.1(CASK):c.2446T>C (p.Tyr816His) single nucleotide variant not provided [RCV003232976] ChrX:41531081 [GRCh38]
ChrX:41390334 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs) indel Developmental disorder [RCV003127304] ChrX:41660474..41660476 [GRCh38]
ChrX:41519727..41519729 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001866026]|not provided [RCV001570990] ChrX:41531038 [GRCh38]
ChrX:41390291 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.846C>T (p.Tyr282=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002072123]|not provided [RCV001560077] ChrX:41636647 [GRCh38]
ChrX:41495900 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1503+37G>A single nucleotide variant not provided [RCV001556644] ChrX:41578303 [GRCh38]
ChrX:41437556 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1583-168G>A single nucleotide variant not provided [RCV001593983] ChrX:41561812 [GRCh38]
ChrX:41421065 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2604+210C>T single nucleotide variant not provided [RCV001584715] ChrX:41523741 [GRCh38]
ChrX:41382994 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2604+71C>T single nucleotide variant not provided [RCV001593860] ChrX:41523880 [GRCh38]
ChrX:41383133 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.173-268dup duplication not provided [RCV001590327] ChrX:41787550..41787551 [GRCh38]
ChrX:41646803..41646804 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1843-179T>G single nucleotide variant not provided [RCV001558667] ChrX:41554094 [GRCh38]
ChrX:41413347 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.172+277del deletion not provided [RCV001558919] ChrX:41852838 [GRCh38]
ChrX:41712091 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1686T>C (p.Ser562=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001519721]|not provided [RCV000940943] ChrX:41559830 [GRCh38]
ChrX:41419083 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.612G>T (p.Gly204=) single nucleotide variant Inborn genetic diseases [RCV002354786]|Intellectual disability, CASK-related, X-linked [RCV002066103] ChrX:41665373 [GRCh38]
ChrX:41524626 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.2589T>G (p.Thr863=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001520846] ChrX:41523966 [GRCh38]
ChrX:41383219 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2214G>T (p.Lys738Asn) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001220873] ChrX:41534915 [GRCh38]
ChrX:41394168 [GRCh37]
ChrX:Xp11.4		 benign|uncertain significance
NM_001367721.1(CASK):c.831+4C>A single nucleotide variant Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV001217682] ChrX:41578411 [GRCh38]
ChrX:41437664 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.372G>A (p.Gln124=) single nucleotide variant Inborn genetic diseases [RCV002346112]|Intellectual disability, CASK-related, X-linked [RCV001487601] ChrX:41739441 [GRCh38]
ChrX:41598694 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1392C>T (p.Thr464=) single nucleotide variant CASK-related disorder [RCV004530970]|Intellectual disability, CASK-related, X-linked [RCV001087389]|not provided [RCV000891134] ChrX:41578451 [GRCh38]
ChrX:41437704 [GRCh37]
ChrX:Xp11.4		 benign|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_001367721.1(CASK):c.787G>A (p.Glu263Lys) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV000990801] ChrX:41660483 [GRCh38]
ChrX:41519736 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2521-168G>A single nucleotide variant not provided [RCV001620218] ChrX:41524202 [GRCh38]
ChrX:41383455 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1811del (p.Leu604fs) deletion Syndromic X-linked intellectual disability Najm type [RCV003236764] ChrX:41555631 [GRCh38]
ChrX:41414884 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.356+229G>T single nucleotide variant not provided [RCV001550702] ChrX:41745295 [GRCh38]
ChrX:41604548 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.285_288del (p.Asp95fs) microsatellite not provided [RCV001008953] ChrX:41745592..41745595 [GRCh38]
ChrX:41604845..41604848 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.418A>G (p.Arg140Gly) single nucleotide variant not provided [RCV001593357] ChrX:41739395 [GRCh38]
ChrX:41598648 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.173-268del deletion not provided [RCV001608657] ChrX:41787551 [GRCh38]
ChrX:41646804 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2604+203G>A single nucleotide variant not provided [RCV001722947] ChrX:41523748 [GRCh38]
ChrX:41383001 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.278+276C>A single nucleotide variant not provided [RCV001719515] ChrX:41786902 [GRCh38]
ChrX:41646155 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1807-292del deletion not provided [RCV001598811] ChrX:41555927 [GRCh38]
ChrX:41415180 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1738-252A>C single nucleotide variant not provided [RCV001596474] ChrX:41557352 [GRCh38]
ChrX:41416605 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln) single nucleotide variant Inborn genetic diseases [RCV002429755]|Intellectual disability, CASK-related, X-linked [RCV001856281]|not provided [RCV001093498] ChrX:41531056 [GRCh38]
ChrX:41390309 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1333G>A (p.Asp445Asn) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001067729]|not provided [RCV001568443] ChrX:41578510 [GRCh38]
ChrX:41437763 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2509G>A (p.Val837Met) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002568257]|not provided [RCV001542090] ChrX:41531018 [GRCh38]
ChrX:41390271 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1842+41A>T single nucleotide variant not provided [RCV001609822] ChrX:41555559 [GRCh38]
ChrX:41414812 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.533-259C>T single nucleotide variant not provided [RCV001538596] ChrX:41665711 [GRCh38]
ChrX:41524964 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.996C>T (p.Ser332=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002072001]|not provided [RCV001546691] ChrX:41626623 [GRCh38]
ChrX:41485876 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1233+18T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002077155]|not specified [RCV001702177] ChrX:41589497 [GRCh38]
ChrX:41448750 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1504-269A>G single nucleotide variant not provided [RCV001567403] ChrX:41570015 [GRCh38]
ChrX:41429268 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [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]|Intellectual disability, CASK-related, X-linked [RCV001219399]|not provided [RCV001726452] ChrX:41559802 [GRCh38]
ChrX:41419055 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.2243A>G (p.His748Arg) single nucleotide variant FG syndrome 4 [RCV001196936]|Intellectual disability, CASK-related, X-linked [RCV003624451] 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_001367721.1(CASK):c.359A>G (p.His120Arg) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001004663] ChrX:41739454 [GRCh38]
ChrX:41598707 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.709-3C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001034517]|Syndromic X-linked intellectual disability Najm type [RCV001332312] 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 Intellectual disability, CASK-related, X-linked [RCV001206618]|not provided [RCV003442770]|not specified [RCV004699194] ChrX:41636595 [GRCh38]
ChrX:41495848 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2604+5G>A single nucleotide variant Intellectual disability, 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 Intellectual disability, 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 Inborn genetic diseases [RCV004601416]|Intellectual disability, 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 Inborn genetic diseases [RCV004032000]|Intellectual disability, CASK-related, X-linked [RCV002069615]|not provided [RCV001093500] ChrX:41609969 [GRCh38]
ChrX:41469222 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NC_000023.11:g.(?_41520400)_(41923008_?)del deletion Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV001214757] ChrX:41531093 [GRCh38]
ChrX:41390346 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2656T>C (p.Tyr886His) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001034504] ChrX:41520545 [GRCh38]
ChrX:41379798 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1256del (p.Tyr419fs) deletion Syndromic X-linked intellectual disability Najm type [RCV001255831] ChrX:41586965 [GRCh38]
ChrX:41446218 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.437G>A (p.Cys146Tyr) single nucleotide variant not provided [RCV001572166] ChrX:41671523 [GRCh38]
ChrX:41530776 [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 FG syndrome 4 [RCV002464428]|Intellectual disability [RCV001260654]|Intellectual disability, CASK-related, X-linked [RCV003624452]|Syndromic X-linked intellectual disability Najm type [RCV001253349]|not provided [RCV001577724] ChrX:41665369 [GRCh38]
ChrX:41524622 [GRCh37]
ChrX:Xp11.4		 likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.4(chrX:41700325-41826061)x1 copy number loss not provided [RCV001537897] ChrX:41700325..41826061 [GRCh37]
ChrX:Xp11.4		 pathogenic
GRCh37/hg19 Xp11.4(chrX:41335354-41519376)x3 copy number gain not provided [RCV001258957] ChrX:41335354..41519376 [GRCh37]
ChrX:Xp11.4		 uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) single nucleotide variant Syndromic X-linked intellectual disability Najm type [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
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 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.2521-11dup duplication not provided [RCV001615235]|not specified [RCV001529175] ChrX:41524044..41524045 [GRCh38]
ChrX:41383297..41383298 [GRCh37]
ChrX:Xp11.4		 benign
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.-6C>T single nucleotide variant not provided [RCV001568222] ChrX:41922994 [GRCh38]
ChrX:41782247 [GRCh37]
ChrX:Xp11.4		 likely benign
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 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_001367721.1(CASK):c.1210G>A (p.Asp404Asn) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001257208] ChrX:41589538 [GRCh38]
ChrX:41448791 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.434A>G (p.His145Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001297652] ChrX:41671526 [GRCh38]
ChrX:41530779 [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 Intellectual disability, 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 Intellectual disability, 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 Intellectual disability, 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
NM_001367721.1(CASK):c.356+1827C>T single nucleotide variant not specified [RCV004598477] ChrX:41743697 [GRCh38]
ChrX:41602950 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1647G>A (p.Val549=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001414680] ChrX:41561580 [GRCh38]
ChrX:41420833 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.660C>T (p.Tyr220=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001434099] ChrX:41665325 [GRCh38]
ChrX:41524578 [GRCh37]
ChrX:Xp11.4		 likely benign
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.550C>A (p.His184Asn) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001369476] ChrX:41665435 [GRCh38]
ChrX:41524688 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1669-7C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001423123] ChrX:41559854 [GRCh38]
ChrX:41419107 [GRCh37]
ChrX:Xp11.4		 likely benign
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 Inborn genetic diseases [RCV002393721]|Intellectual disability, CASK-related, X-linked [RCV001304210] ChrX:41578350 [GRCh38]
ChrX:41437603 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.172+1G>A single nucleotide variant Neurodevelopmental disorder [RCV001374979] ChrX:41853114 [GRCh38]
ChrX:41712367 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1819A>G (p.Thr607Ala) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001360765]|not provided [RCV003234055] ChrX:41555623 [GRCh38]
ChrX:41414876 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001323132] ChrX:41559789 [GRCh38]
ChrX:41419042 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2113AAG[1] (p.Lys706del) microsatellite Intellectual disability, CASK-related, X-linked [RCV001363133] ChrX:41542728..41542730 [GRCh38]
ChrX:41401981..41401983 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2540C>T (p.Thr847Ile) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001345179] ChrX:41524015 [GRCh38]
ChrX:41383268 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1439T>C (p.Met480Thr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001370320] ChrX:41578404 [GRCh38]
ChrX:41437657 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1540A>G (p.Ile514Val) single nucleotide variant Intellectual disability, 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 Intellectual disability, 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 Intellectual disability, 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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.54C>T (p.Ile18=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001427625] ChrX:41922935 [GRCh38]
ChrX:41782188 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.69C>T (p.Phe23=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001454537] ChrX:41853218 [GRCh38]
ChrX:41712471 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2521-10C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001521454]|not provided [RCV001673102] ChrX:41524044 [GRCh38]
ChrX:41383297 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1473A>G (p.Val491=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001425815] ChrX:41578370 [GRCh38]
ChrX:41437623 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1284A>G (p.Leu428=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001517419] ChrX:41586937 [GRCh38]
ChrX:41446190 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.225A>G (p.Val75=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001486772] ChrX:41787231 [GRCh38]
ChrX:41646484 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.177A>G (p.Leu59=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001487106] ChrX:41787279 [GRCh38]
ChrX:41646532 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2679A>G (p.Thr893=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001470459] ChrX:41520522 [GRCh38]
ChrX:41379775 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.951C>T (p.Phe317=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001464654] ChrX:41626668 [GRCh38]
ChrX:41485921 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.549T>C (p.Pro183=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001430300] ChrX:41665436 [GRCh38]
ChrX:41524689 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1369T>C (p.Leu457=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001423602] ChrX:41578474 [GRCh38]
ChrX:41437727 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2490G>A (p.Gly830=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001402436] ChrX:41531037 [GRCh38]
ChrX:41390290 [GRCh37]
ChrX:Xp11.4		 likely benign
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_001367721.1(CASK):c.191G>A (p.Ser64Asn) single nucleotide variant Intellectual disability, 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 Intellectual disability, CASK-related, X-linked [RCV000646771] ChrX:41542798 [GRCh38]
ChrX:41402051 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2142A>T (p.Ala714=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV000646776] ChrX:41542704 [GRCh38]
ChrX:41401957 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.303T>C (p.Phe101=) single nucleotide variant Intellectual disability, 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
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter) single nucleotide variant not provided [RCV000627199] ChrX:41520444 [GRCh38]
ChrX:41379697 [GRCh37]
ChrX:Xp11.4		 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
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.546A>T (p.Thr182=) single nucleotide variant Inborn genetic diseases [RCV002318221] ChrX:41665439 [GRCh38]
ChrX:41524692 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2670C>T (p.Phe890=) single nucleotide variant Inborn genetic diseases [RCV002318346]|Intellectual disability, CASK-related, X-linked [RCV002067068]|not provided [RCV000936849] ChrX:41520531 [GRCh38]
ChrX:41379784 [GRCh37]
ChrX:Xp11.4		 likely benign
Single allele deletion Global developmental delay [RCV001003868] ChrX:41458916..41537987 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.2040-236G>A single nucleotide variant not provided [RCV001585300] ChrX:41543042 [GRCh38]
ChrX:41402295 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2521-10_2521-8del deletion Intellectual disability, CASK-related, X-linked [RCV001493504] ChrX:41524042..41524044 [GRCh38]
ChrX:41383295..41383297 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.132T>C (p.Asp44=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001425696] ChrX:41853155 [GRCh38]
ChrX:41712408 [GRCh37]
ChrX:Xp11.4		 likely benign
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_001367721.1(CASK):c.2734C>T (p.Leu912Phe) single nucleotide variant FG syndrome 4 [RCV002510584]|Intellectual disability, CASK-related, X-linked [RCV000815819]|Syndromic X-linked intellectual disability Najm type [RCV004771487]|not provided [RCV003145187] ChrX:41520467 [GRCh38]
ChrX:41379720 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) deletion Syndromic X-linked intellectual disability Najm type [RCV000990799] ChrX:41578449..41578458 [GRCh38]
ChrX:41437702..41437711 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.774_780del (p.Met258fs) deletion Syndromic X-linked intellectual disability Najm type [RCV000990802] ChrX:41660490..41660496 [GRCh38]
ChrX:41519743..41519749 [GRCh37]
ChrX:Xp11.4		 pathogenic
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
NM_001367721.1(CASK):c.1508del (p.Ile503fs) deletion not provided [RCV001093499] ChrX:41569742 [GRCh38]
ChrX:41428995 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.836G>A (p.Arg279Gln) single nucleotide variant not provided [RCV001767317] ChrX:41636657 [GRCh38]
ChrX:41495910 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.175C>T (p.Leu59=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001416655] ChrX:41787281 [GRCh38]
ChrX:41646534 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1843-84C>G single nucleotide variant not provided [RCV001556390] ChrX:41553999 [GRCh38]
ChrX:41413252 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2608del (p.Glu870fs) deletion Syndromic X-linked intellectual disability Najm type [RCV001255833] ChrX:41520593 [GRCh38]
ChrX:41379846 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2039+1del deletion Syndromic X-linked intellectual disability Najm type [RCV001255728] ChrX:41553718 [GRCh38]
ChrX:41412971 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1669-7C>G single nucleotide variant CASK-related disorder [RCV004545183]|Intellectual disability, CASK-related, X-linked [RCV003512113]|not provided [RCV001288908] ChrX:41559854 [GRCh38]
ChrX:41419107 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1089C>T (p.Cys363=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001407597] ChrX:41609970 [GRCh38]
ChrX:41469223 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1536T>C (p.His512=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001407915] ChrX:41569714 [GRCh38]
ChrX:41428967 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2184T>C (p.Tyr728=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001400896] ChrX:41534945 [GRCh38]
ChrX:41394198 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2064G>A (p.Glu688=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001431704] ChrX:41542782 [GRCh38]
ChrX:41402035 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2058C>T (p.Ala686=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001445197] ChrX:41542788 [GRCh38]
ChrX:41402041 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.948A>G (p.Lys316=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001427194] ChrX:41626671 [GRCh38]
ChrX:41485924 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.938C>G (p.Ser313Ter) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001391016] ChrX:41626681 [GRCh38]
ChrX:41485934 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1156-9G>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001445779] ChrX:41589601 [GRCh38]
ChrX:41448854 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1314+5_1314+8del microsatellite Intellectual disability, CASK-related, X-linked [RCV001427529]|not provided [RCV002243206] ChrX:41586899..41586902 [GRCh38]
ChrX:41446152..41446155 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.684A>G (p.Glu228=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001448538] ChrX:41665301 [GRCh38]
ChrX:41524554 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1578G>A (p.Arg526=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001467785] ChrX:41569672 [GRCh38]
ChrX:41428925 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2521-162T>C single nucleotide variant not provided [RCV001583738] ChrX:41524196 [GRCh38]
ChrX:41383449 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2508C>T (p.Asp836=) single nucleotide variant Inborn genetic diseases [RCV002424953]|Intellectual disability, CASK-related, X-linked [RCV001515201]|not provided [RCV001531775]|not specified [RCV003994301] ChrX:41531019 [GRCh38]
ChrX:41390272 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.2481C>T (p.His827=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001510786] ChrX:41531046 [GRCh38]
ChrX:41390299 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2040-7G>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001515987] ChrX:41542813 [GRCh38]
ChrX:41402066 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1332C>T (p.His444=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001521154]|not provided [RCV003438862] ChrX:41578511 [GRCh38]
ChrX:41437764 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.1431C>T (p.Asn477=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001500199] ChrX:41578412 [GRCh38]
ChrX:41437665 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1016-247dup duplication not provided [RCV001539162] ChrX:41622880..41622881 [GRCh38]
ChrX:41482133..41482134 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.532+340G>A single nucleotide variant not provided [RCV001691904] ChrX:41671088 [GRCh38]
ChrX:41530341 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.532+25dup duplication not provided [RCV001714359] ChrX:41671402..41671403 [GRCh38]
ChrX:41530655..41530656 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.357-306A>C single nucleotide variant not provided [RCV001675263] ChrX:41739762 [GRCh38]
ChrX:41599015 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1669-6del deletion Intellectual disability, CASK-related, X-linked [RCV001519303] ChrX:41559853 [GRCh38]
ChrX:41419106 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.376C>T (p.Leu126=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001485905] ChrX:41739437 [GRCh38]
ChrX:41598690 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1583-7T>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001514256] ChrX:41561651 [GRCh38]
ChrX:41420904 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1362T>C (p.Asp454=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001513334] ChrX:41578481 [GRCh38]
ChrX:41437734 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1563G>A (p.Gly521=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001397731] ChrX:41569687 [GRCh38]
ChrX:41428940 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1288C>T (p.Arg430Cys) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001429856] ChrX:41586933 [GRCh38]
ChrX:41446186 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.925C>T (p.Leu309=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001483531] ChrX:41626694 [GRCh38]
ChrX:41485947 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.930C>T (p.Ala310=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001485155] ChrX:41626689 [GRCh38]
ChrX:41485942 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.876A>C (p.Val292=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001462380] ChrX:41636617 [GRCh38]
ChrX:41495870 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2375C>T (p.Ser792Phe) single nucleotide variant not provided [RCV001727511] ChrX:41531152 [GRCh38]
ChrX:41390405 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly) single nucleotide variant not provided [RCV001725807] ChrX:41557079 [GRCh38]
ChrX:41416332 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.825G>A (p.Trp275Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV002259417] ChrX:41660445 [GRCh38]
ChrX:41519698 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1258C>T (p.Pro420Ser) single nucleotide variant not specified [RCV002247054] ChrX:41586963 [GRCh38]
ChrX:41446216 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.588C>G (p.Tyr196Ter) single nucleotide variant not provided [RCV001725808] ChrX:41665397 [GRCh38]
ChrX:41524650 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2252_2253del (p.Gly751fs) deletion Neurodevelopmental disorder [RCV002277662] ChrX:41534770..41534771 [GRCh38]
ChrX:41394023..41394024 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2248G>T (p.Val750Phe) single nucleotide variant not provided [RCV002272076] ChrX:41534775 [GRCh38]
ChrX:41394028 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2390T>C (p.Met797Thr) single nucleotide variant not provided [RCV001756911] ChrX:41531137 [GRCh38]
ChrX:41390390 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2452A>T (p.Thr818Ser) single nucleotide variant not provided [RCV002259500] ChrX:41531075 [GRCh38]
ChrX:41390328 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.656T>C (p.Phe219Ser) single nucleotide variant not provided [RCV001756782] ChrX:41665329 [GRCh38]
ChrX:41524582 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1088G>A (p.Cys363Tyr) single nucleotide variant not provided [RCV001757278] ChrX:41609971 [GRCh38]
ChrX:41469224 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1842+6T>C single nucleotide variant not provided [RCV001773266] ChrX:41555594 [GRCh38]
ChrX:41414847 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2501T>C (p.Ile834Thr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002540606]|not provided [RCV001774700] ChrX:41531026 [GRCh38]
ChrX:41390279 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln) single nucleotide variant FG syndrome 4 [RCV001801267] ChrX:41531093 [GRCh38]
ChrX:41390346 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile) single nucleotide variant FG syndrome 4 [RCV001761582]|not provided [RCV003238468] ChrX:41578419 [GRCh38]
ChrX:41437672 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003512131]|not provided [RCV001769148] ChrX:41531030 [GRCh38]
ChrX:41390283 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1168A>C (p.Ile390Leu) single nucleotide variant not provided [RCV001767730] ChrX:41589580 [GRCh38]
ChrX:41448833 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1238T>C (p.Leu413Ser) single nucleotide variant not provided [RCV001755125] ChrX:41586983 [GRCh38]
ChrX:41446236 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1582+3A>T single nucleotide variant not provided [RCV001757974] ChrX:41569665 [GRCh38]
ChrX:41428918 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1805C>T (p.Ser602Leu) single nucleotide variant not provided [RCV001773946] ChrX:41557033 [GRCh38]
ChrX:41416286 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.173-1G>T single nucleotide variant not provided [RCV001794765] ChrX:41787284 [GRCh38]
ChrX:41646537 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2155G>A (p.Val719Met) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001787238] ChrX:41542691 [GRCh38]
ChrX:41401944 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2384A>G (p.Gln795Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001990549] ChrX:41531143 [GRCh38]
ChrX:41390396 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2318-11C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001868899]|not provided [RCV001797468] ChrX:41531220 [GRCh38]
ChrX:41390473 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.1094A>G (p.Glu365Gly) single nucleotide variant not provided [RCV001752795] ChrX:41609965 [GRCh38]
ChrX:41469218 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.915+1G>A single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001809122] ChrX:41636577 [GRCh38]
ChrX:41495830 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1683dup (p.Ser562fs) duplication not provided [RCV001817641] ChrX:41559832..41559833 [GRCh38]
ChrX:41419085..41419086 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.793A>T (p.Ile265Phe) single nucleotide variant not specified [RCV001822815] ChrX:41660477 [GRCh38]
ChrX:41519730 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.533-5T>G single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001809121] ChrX:41665457 [GRCh38]
ChrX:41524710 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1582+1G>A single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001808874] ChrX:41569667 [GRCh38]
ChrX:41428920 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2530G>T (p.Val844Phe) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001808126] ChrX:41524025 [GRCh38]
ChrX:41383278 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2303C>T (p.Ala768Val) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002008322] ChrX:41534720 [GRCh38]
ChrX:41393973 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.709-6C>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002014286] ChrX:41660567 [GRCh38]
ChrX:41519820 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.334G>A (p.Val112Met) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002026295] ChrX:41745546 [GRCh38]
ChrX:41604799 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.269T>C (p.Val90Ala) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001867649] ChrX:41787187 [GRCh38]
ChrX:41646440 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2224C>A (p.Leu742Ile) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002045684] ChrX:41534905 [GRCh38]
ChrX:41394158 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys) single nucleotide variant FG syndrome 4 [RCV001823679] ChrX:41578449 [GRCh38]
ChrX:41437702 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.356+1G>T single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV001843835] ChrX:41745523 [GRCh38]
ChrX:41604776 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1652_1655dup (p.Gln553fs) duplication Intellectual disability, CASK-related, X-linked [RCV001994755] ChrX:41561571..41561572 [GRCh38]
ChrX:41420824..41420825 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1949G>A (p.Ser650Asn) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002001778] ChrX:41553809 [GRCh38]
ChrX:41413062 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.589G>A (p.Gly197Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002016863] ChrX:41665396 [GRCh38]
ChrX:41524649 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2126A>G (p.Lys709Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002019763] ChrX:41542720 [GRCh38]
ChrX:41401973 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1108T>A (p.Phe370Ile) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002021245] ChrX:41609951 [GRCh38]
ChrX:41469204 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.2317+5G>A single nucleotide variant Developmental disorder [RCV001843739]|Syndromic X-linked intellectual disability Najm type [RCV003883186] ChrX:41534701 [GRCh38]
ChrX:41393954 [GRCh37]
ChrX:Xp11.4		 pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.2230T>G (p.Leu744Val) single nucleotide variant not provided [RCV001843626] ChrX:41534899 [GRCh38]
ChrX:41394152 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2604+3A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002021073] ChrX:41523948 [GRCh38]
ChrX:41383201 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) single nucleotide variant Inborn genetic diseases [RCV004043031]|Intellectual disability, CASK-related, X-linked [RCV001957859]|Syndromic X-linked intellectual disability Najm type [RCV002492027] ChrX:41531103 [GRCh38]
ChrX:41390356 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.181C>T (p.Arg61Trp) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001902667] ChrX:41787275 [GRCh38]
ChrX:41646528 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2040-2A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001963252] ChrX:41542808 [GRCh38]
ChrX:41402061 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.2138T>A (p.Leu713Ter) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001950476] ChrX:41542708 [GRCh38]
ChrX:41401961 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1438A>T (p.Met480Leu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001953150] ChrX:41578405 [GRCh38]
ChrX:41437658 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2382C>G (p.Asp794Glu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001985866] ChrX:41531145 [GRCh38]
ChrX:41390398 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2042G>A (p.Arg681Gln) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001887575] ChrX:41542804 [GRCh38]
ChrX:41402057 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1598G>C (p.Gly533Ala) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001887604]|not provided [RCV004719180] ChrX:41561629 [GRCh38]
ChrX:41420882 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.847G>A (p.Ala283Thr) single nucleotide variant FG syndrome 4 [RCV003130609]|Intellectual disability, CASK-related, X-linked [RCV001919213] ChrX:41636646 [GRCh38]
ChrX:41495899 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1538G>A (p.Cys513Tyr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001888948] ChrX:41569712 [GRCh38]
ChrX:41428965 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1117A>G (p.Ser373Gly) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001927486] ChrX:41609942 [GRCh38]
ChrX:41469195 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.15C>A (p.Asp5Glu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001927591] ChrX:41922974 [GRCh38]
ChrX:41782227 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1195A>G (p.Arg399Gly) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001932405] ChrX:41589553 [GRCh38]
ChrX:41448806 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.2237-2A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001970820] ChrX:41534788 [GRCh38]
ChrX:41394041 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.29_30dup (p.Val11fs) duplication Intellectual disability, CASK-related, X-linked [RCV001914460] ChrX:41922958..41922959 [GRCh38]
ChrX:41782211..41782212 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.10:g.(?_41446140)_(41446260_?)del deletion Intellectual disability, CASK-related, X-linked [RCV001918694] ChrX:41446140..41446260 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.104G>A (p.Gly35Glu) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001957049] ChrX:41853183 [GRCh38]
ChrX:41712436 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.430C>T (p.Pro144Ser) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001879622] ChrX:41671530 [GRCh38]
ChrX:41530783 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1669-5T>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001878639] ChrX:41559852 [GRCh38]
ChrX:41419105 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.356+4T>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001961368] ChrX:41745520 [GRCh38]
ChrX:41604773 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.317G>A (p.Arg106Gln) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001907725] ChrX:41745563 [GRCh38]
ChrX:41604816 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) single nucleotide variant Inborn genetic diseases [RCV002386665]|Intellectual disability, CASK-related, X-linked [RCV001884310]|not provided [RCV002463059] ChrX:41626622 [GRCh38]
ChrX:41485875 [GRCh37]
ChrX:Xp11.4		 likely benign|uncertain significance
NM_001367721.1(CASK):c.2179A>C (p.Thr727Pro) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001889684] ChrX:41534950 [GRCh38]
ChrX:41394203 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1114C>T (p.His372Tyr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV001929832] ChrX:41609945 [GRCh38]
ChrX:41469198 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.429+16T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002110156] ChrX:41739368 [GRCh38]
ChrX:41598621 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2304G>A (p.Ala768=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002166719] ChrX:41534719 [GRCh38]
ChrX:41393972 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1275A>G (p.Ala425=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002124626] ChrX:41586946 [GRCh38]
ChrX:41446199 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1234-8T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002166987] ChrX:41586995 [GRCh38]
ChrX:41446248 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2317+20C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002205695] ChrX:41534686 [GRCh38]
ChrX:41393939 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2605-17A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002110118] ChrX:41520613 [GRCh38]
ChrX:41379866 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1806+20A>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002208911] ChrX:41557012 [GRCh38]
ChrX:41416265 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2520+19G>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002145802] ChrX:41530988 [GRCh38]
ChrX:41390241 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1034-5del deletion Intellectual disability, CASK-related, X-linked [RCV002074663] ChrX:41610030 [GRCh38]
ChrX:41469283 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1583-10_1583-8del deletion Intellectual disability, CASK-related, X-linked [RCV002165934] ChrX:41561652..41561654 [GRCh38]
ChrX:41420905..41420907 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1504-6T>A single nucleotide variant not specified [RCV002247053] ChrX:41569752 [GRCh38]
ChrX:41429005 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1504-15_1504-14insC insertion Intellectual disability, CASK-related, X-linked [RCV002129890] ChrX:41569760..41569761 [GRCh38]
ChrX:41429013..41429014 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1149A>G (p.Leu383=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002210033] ChrX:41609910 [GRCh38]
ChrX:41469163 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.60-20A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002175179] ChrX:41853247 [GRCh38]
ChrX:41712500 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.822A>G (p.Pro274=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002149814] ChrX:41660448 [GRCh38]
ChrX:41519701 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.430-20T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002133416] ChrX:41671550 [GRCh38]
ChrX:41530803 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.909A>G (p.Lys303=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002134649] ChrX:41636584 [GRCh38]
ChrX:41495837 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1233+17A>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002171509] ChrX:41589498 [GRCh38]
ChrX:41448751 [GRCh37]
ChrX:Xp11.4		 benign
NM_080817.5(GPR82):c.399C>T (p.Cys133=) single nucleotide variant not provided [RCV002214528] ChrX:41727425 [GRCh38]
ChrX:41586678 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1503+18G>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002116205] ChrX:41578322 [GRCh38]
ChrX:41437575 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1921A>C (p.Arg641=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002173068] ChrX:41553837 [GRCh38]
ChrX:41413090 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.278+10dup duplication Intellectual disability, CASK-related, X-linked [RCV002076153] ChrX:41787167..41787168 [GRCh38]
ChrX:41646420..41646421 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.430-19C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002076367] ChrX:41671549 [GRCh38]
ChrX:41530802 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.832-11A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002084897] ChrX:41636672 [GRCh38]
ChrX:41495925 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1669-18C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002174125] ChrX:41559865 [GRCh38]
ChrX:41419118 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.387A>G (p.Leu129=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002171328] ChrX:41739426 [GRCh38]
ChrX:41598679 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2605-12A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002213034] ChrX:41520608 [GRCh38]
ChrX:41379861 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1668+10T>C single nucleotide variant CASK-related disorder [RCV004531481]|Intellectual disability, CASK-related, X-linked [RCV002131197] ChrX:41561549 [GRCh38]
ChrX:41420802 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.2520+10A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002079250] ChrX:41530997 [GRCh38]
ChrX:41390250 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1504-6del deletion Intellectual disability, CASK-related, X-linked [RCV002095031]|not provided [RCV003883763] ChrX:41569752 [GRCh38]
ChrX:41429005 [GRCh37]
ChrX:Xp11.4		 benign|likely benign
NM_001367721.1(CASK):c.45C>T (p.Cys15=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002134827] ChrX:41922944 [GRCh38]
ChrX:41782197 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1234-20A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002127230] ChrX:41587007 [GRCh38]
ChrX:41446260 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1972C>T (p.Gln658Ter) single nucleotide variant not provided [RCV002221765] ChrX:41553786 [GRCh38]
ChrX:41413039 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.916-17T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002200638] ChrX:41626720 [GRCh38]
ChrX:41485973 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.916-15A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002202520] ChrX:41626718 [GRCh38]
ChrX:41485971 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.60-9del deletion Intellectual disability, CASK-related, X-linked [RCV002217954] ChrX:41853236 [GRCh38]
ChrX:41712489 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1156-15T>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002123018] ChrX:41589607 [GRCh38]
ChrX:41448860 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.525A>G (p.Val175=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002143663] ChrX:41671435 [GRCh38]
ChrX:41530688 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.897T>C (p.Asn299=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002178200] ChrX:41636596 [GRCh38]
ChrX:41495849 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1326G>A (p.Gln442=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002155638] ChrX:41578517 [GRCh38]
ChrX:41437770 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.173-15A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002182118] ChrX:41787298 [GRCh38]
ChrX:41646551 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1314+18T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002155929] ChrX:41586889 [GRCh38]
ChrX:41446142 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2511G>C (p.Val837=) single nucleotide variant Inborn genetic diseases [RCV002427668]|Intellectual disability, CASK-related, X-linked [RCV002158103] ChrX:41531016 [GRCh38]
ChrX:41390269 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.915+7T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002154198] ChrX:41636571 [GRCh38]
ChrX:41495824 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2343C>T (p.Asp781=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002122868] ChrX:41531184 [GRCh38]
ChrX:41390437 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.429+20T>A single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002161835] ChrX:41739364 [GRCh38]
ChrX:41598617 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1551A>G (p.Arg517=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002154247] ChrX:41569699 [GRCh38]
ChrX:41428952 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.832-18A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002219066] ChrX:41636679 [GRCh38]
ChrX:41495932 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2526G>A (p.Leu842=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002082423] ChrX:41524029 [GRCh38]
ChrX:41383282 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.281T>C (p.Met94Thr) single nucleotide variant not provided [RCV002221926] ChrX:41745599 [GRCh38]
ChrX:41604852 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.231A>G (p.Leu77=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002200969] ChrX:41787225 [GRCh38]
ChrX:41646478 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1234-15T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002204837] ChrX:41587002 [GRCh38]
ChrX:41446255 [GRCh37]
ChrX:Xp11.4		 likely benign
NC_000023.10:g.(?_41428901)_(41429019_?)del deletion Intellectual disability, CASK-related, X-linked [RCV003113306] ChrX:41428901..41429019 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.10:g.(?_41712348)_(41782241_?)del deletion Intellectual disability, CASK-related, X-linked [RCV003113307] ChrX:41712348..41782241 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.10:g.(?_41412952)_(41429019_?)del deletion Intellectual disability, CASK-related, X-linked [RCV003113308] ChrX:41412952..41429019 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.10:g.(?_41401924)_(41416373_?)del deletion Intellectual disability, CASK-related, X-linked [RCV003113309] ChrX:41401924..41416373 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.10:g.(?_41598617)_(41604874_?)del deletion Intellectual disability, CASK-related, X-linked [RCV003113310] ChrX:41598617..41604874 [GRCh37]
ChrX:Xp11.4		 pathogenic
NC_000023.10:g.(?_41712348)_(41782241_?)dup duplication Intellectual disability, CASK-related, X-linked [RCV003113311] ChrX:41712348..41782241 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_41393939)_(41420917_?)dup duplication Intellectual disability, CASK-related, X-linked [RCV003113313] ChrX:41393939..41420917 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_41446140)_(41530803_?)dup duplication Intellectual disability, CASK-related, X-linked [RCV003113314] ChrX:41446140..41530803 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NC_000023.10:g.(?_40440318)_(41782241_?)dup duplication not provided [RCV003122374] ChrX:40440318..41782241 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1155+1G>T single nucleotide variant not provided [RCV003151480] ChrX:41609903 [GRCh38]
ChrX:41469156 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1737+7A>T single nucleotide variant not provided [RCV003144657] ChrX:41559772 [GRCh38]
ChrX:41419025 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2169A>G (p.Leu723=) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV003152940] ChrX:41534960 [GRCh38]
ChrX:41394213 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1583-1G>T single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV003153141] ChrX:41561645 [GRCh38]
ChrX:41420898 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV003147863] ChrX:41665396 [GRCh38]
ChrX:41524649 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1015+1G>A single nucleotide variant not provided [RCV003156550] ChrX:41626603 [GRCh38]
ChrX:41485856 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys) single nucleotide variant Seizure [RCV002275920] ChrX:41553911 [GRCh38]
ChrX:41413164 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2569A>G (p.Ile857Val) single nucleotide variant not specified [RCV002247907] ChrX:41523986 [GRCh38]
ChrX:41383239 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV002250990] ChrX:41671454 [GRCh38]
ChrX:41530707 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.2039+1G>A single nucleotide variant X-linked syndromic intellectual disability [RCV002273149] ChrX:41553718 [GRCh38]
ChrX:41412971 [GRCh37]
ChrX:Xp11.4		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV002272997] ChrX:41561562 [GRCh38]
ChrX:41420815 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln) single nucleotide variant Syndromic X-linked intellectual disability Najm type [RCV002290204] ChrX:41665420 [GRCh38]
ChrX:41524673 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1678C>T (p.Arg560Trp) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002294558] ChrX:41559838 [GRCh38]
ChrX:41419091 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2707A>G (p.Ile903Val) single nucleotide variant not provided [RCV002291949] ChrX:41520494 [GRCh38]
ChrX:41379747 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile) single nucleotide variant FG syndrome 4 [RCV002291309] ChrX:41609977 [GRCh38]
ChrX:41469230 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1159T>C (p.Tyr387His) single nucleotide variant not provided [RCV003232027] ChrX:41589589 [GRCh38]
ChrX:41448842 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.278+2_278+3del microsatellite Syndromic X-linked intellectual disability Najm type [RCV003236242] ChrX:41787175..41787176 [GRCh38]
ChrX:41646428..41646429 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.*1317G>A single nucleotide variant not provided [RCV002280250] ChrX:41519103 [GRCh38]
ChrX:41378356 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1510del (p.Thr504fs) deletion Syndromic X-linked intellectual disability Najm type [RCV002283963] ChrX:41569740 [GRCh38]
ChrX:41428993 [GRCh37]
ChrX:Xp11.4		 likely pathogenic
NM_001367721.1(CASK):c.1790C>T (p.Thr597Ile) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003778687]|not provided [RCV003129220] ChrX:41557048 [GRCh38]
ChrX:41416301 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1668+11G>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003012241] ChrX:41561548 [GRCh38]
ChrX:41420801 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.916G>A (p.Gly306Ser) single nucleotide variant not provided [RCV002474112] ChrX:41626703 [GRCh38]
ChrX:41485956 [GRCh37]
ChrX:Xp11.4		 uncertain significance
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22		 pathogenic
NM_001367721.1(CASK):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV002417108]|Syndromic X-linked intellectual disability Najm type [RCV003624490] ChrX:41922988 [GRCh38]
ChrX:41782241 [GRCh37]
ChrX:Xp11.4		 pathogenic
NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu) single nucleotide variant not provided [RCV003235862] ChrX:41553897 [GRCh38]
ChrX:41413150 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.92A>G (p.Asn31Ser) single nucleotide variant Inborn genetic diseases [RCV002371511]|Intellectual disability, CASK-related, X-linked [RCV003100138] ChrX:41853195 [GRCh38]
ChrX:41712448 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp) single nucleotide variant Inborn genetic diseases [RCV002446094]|Intellectual disability, CASK-related, X-linked [RCV003101193]|Syndromic X-linked intellectual disability Najm type [RCV004594645]|not provided [RCV003318725] ChrX:41534727 [GRCh38]
ChrX:41393980 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2572G>A (p.Ala858Thr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002299973] ChrX:41523983 [GRCh38]
ChrX:41383236 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1986A>C (p.Glu662Asp) single nucleotide variant Inborn genetic diseases [RCV002423741]|Intellectual disability, CASK-related, X-linked [RCV003512177] ChrX:41553772 [GRCh38]
ChrX:41413025 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1680G>A (p.Arg560=) single nucleotide variant Inborn genetic diseases [RCV002406031] ChrX:41559836 [GRCh38]
ChrX:41419089 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.838G>T (p.Asp280Tyr) single nucleotide variant Inborn genetic diseases [RCV002434849] ChrX:41636655 [GRCh38]
ChrX:41495908 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1236A>G (p.Val412=) single nucleotide variant Inborn genetic diseases [RCV002364959] ChrX:41586985 [GRCh38]
ChrX:41446238 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2781G>A (p.Ter927=) single nucleotide variant Inborn genetic diseases [RCV002439551] ChrX:41520420 [GRCh38]
ChrX:41379673 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1650A>G (p.Glu550=) single nucleotide variant Inborn genetic diseases [RCV002403650]|Intellectual disability, CASK-related, X-linked [RCV003774437] ChrX:41561577 [GRCh38]
ChrX:41420830 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1828C>A (p.Pro610Thr) single nucleotide variant Inborn genetic diseases [RCV002410471]|Intellectual disability, CASK-related, X-linked [RCV003624488]|not provided [RCV003146560] ChrX:41555614 [GRCh38]
ChrX:41414867 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1046A>G (p.Gln349Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002296848] ChrX:41610013 [GRCh38]
ChrX:41469266 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.465G>A (p.Ser155=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002731607] ChrX:41671495 [GRCh38]
ChrX:41530748 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1806G>A (p.Ser602=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002730486] ChrX:41557032 [GRCh38]
ChrX:41416285 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_080817.5(GPR82):c.949A>C (p.Lys317Gln) single nucleotide variant not specified [RCV004107455] ChrX:41727975 [GRCh38]
ChrX:41587228 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1006A>G (p.Thr336Ala) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003017639]|not provided [RCV003313299] ChrX:41626613 [GRCh38]
ChrX:41485866 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1081A>G (p.Thr361Ala) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003014004] ChrX:41609978 [GRCh38]
ChrX:41469231 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1880A>G (p.Lys627Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002819955] ChrX:41553878 [GRCh38]
ChrX:41413131 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2767T>A (p.Ser923Thr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002726324] ChrX:41520434 [GRCh38]
ChrX:41379687 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.462C>T (p.Asn154=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002839241] ChrX:41671498 [GRCh38]
ChrX:41530751 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1916G>A (p.Arg639Gln) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002994752] ChrX:41553842 [GRCh38]
ChrX:41413095 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1487A>C (p.Asn496Thr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002838188] ChrX:41578356 [GRCh38]
ChrX:41437609 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1560T>C (p.His520=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002880678] ChrX:41569690 [GRCh38]
ChrX:41428943 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1065A>G (p.Glu355=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002639282] ChrX:41609994 [GRCh38]
ChrX:41469247 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2676C>G (p.Leu892=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002889653] ChrX:41520525 [GRCh38]
ChrX:41379778 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.486C>T (p.Gly162=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003017790] ChrX:41671474 [GRCh38]
ChrX:41530727 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1504-17T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002949072] ChrX:41569763 [GRCh38]
ChrX:41429016 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2736C>T (p.Leu912=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003035362] ChrX:41520465 [GRCh38]
ChrX:41379718 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.2576C>T (p.Ala859Val) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002760317] ChrX:41523979 [GRCh38]
ChrX:41383232 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1807-4A>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002820974] ChrX:41555639 [GRCh38]
ChrX:41414892 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1643C>G (p.Thr548Arg) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003054459] ChrX:41561584 [GRCh38]
ChrX:41420837 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1155+2dup duplication Intellectual disability, CASK-related, X-linked [RCV002820458] ChrX:41609901..41609902 [GRCh38]
ChrX:41469154..41469155 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2605-14del deletion Intellectual disability, CASK-related, X-linked [RCV002867452] ChrX:41520610 [GRCh38]
ChrX:41379863 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2039+16T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002592140] ChrX:41553703 [GRCh38]
ChrX:41412956 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1016-8C>T single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002639721] ChrX:41622642 [GRCh38]
ChrX:41481895 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1807-12T>C single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002761497] ChrX:41555647 [GRCh38]
ChrX:41414900 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.561A>C (p.Ala187=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002780743] ChrX:41665424 [GRCh38]
ChrX:41524677 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1504-7_1504-6dup duplication Intellectual disability, CASK-related, X-linked [RCV003052841] ChrX:41569751..41569752 [GRCh38]
ChrX:41429004..41429005 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.1314+3A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003077818] ChrX:41586904 [GRCh38]
ChrX:41446157 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.2741G>A (p.Cys914Tyr) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003039007] ChrX:41520460 [GRCh38]
ChrX:41379713 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.180G>A (p.Lys60=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002663885] ChrX:41787276 [GRCh38]
ChrX:41646529 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.2560G>A (p.Val854Ile) single nucleotide variant Inborn genetic diseases [RCV002712583] ChrX:41523995 [GRCh38]
ChrX:41383248 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.989A>G (p.Asp330Gly) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002596824]|not provided [RCV003332382] ChrX:41626630 [GRCh38]
ChrX:41485883 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1842+18A>G single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV002894114] ChrX:41555582 [GRCh38]
ChrX:41414835 [GRCh37]
ChrX:Xp11.4		 benign
NM_001367721.1(CASK):c.835C>T (p.Arg279Trp) single nucleotide variant not provided [RCV003059924] ChrX:41636658 [GRCh38]
ChrX:41495911 [GRCh37]
ChrX:Xp11.4		 uncertain significance
NM_001367721.1(CASK):c.1419A>C (p.Pro473=) single nucleotide variant Intellectual disability, CASK-related, X-linked [RCV003042235] ChrX:41578424 [GRCh38]
ChrX:41437677 [GRCh37]
ChrX:Xp11.4		 likely benign
NM_001367721.1(CASK):c.1806+17dup duplication Intellectual disability, CASK-related, X-linked [RCV002891050]|not specified [RCV003491160]