ClinVar Miner

Variants in gene CASK

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
130 74 275 265 113 4 765

Condition and significance breakdown #

Total conditions: 27
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, CASK-related, X-linked 22 5 148 192 92 0 459
not provided 50 20 114 59 28 1 258
Syndromic X-linked intellectual disability Najm type 49 29 13 2 0 0 89
Inborn genetic diseases 5 1 20 16 9 0 51
not specified 0 0 12 19 17 0 45
FG syndrome 4 14 5 8 0 0 0 26
CASK-related condition 0 2 1 14 3 0 20
Intellectual disability 0 4 3 0 0 0 7
Congenital cerebellar hypoplasia 0 4 0 0 0 0 4
Developmental disorder 3 0 0 1 0 0 4
See cases 2 2 0 0 0 0 4
CASK-Related Disorder 1 0 0 0 0 2 3
Neurodevelopmental disorder 2 0 1 0 0 0 3
Syndromic X-linked intellectual disability Najm type; FG syndrome 4 1 2 0 0 0 0 3
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 1 0 1 0 0 3
Seizure 0 0 2 0 0 0 2
Abnormality of the nervous system 0 1 0 0 0 0 1
CASK-related disorders 0 0 1 0 0 0 1
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Dystonic disorder; Global developmental delay; Visual impairment; Generalized hypotonia 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Global developmental delay; Hypertonia; Nystagmus; Primary microcephaly 0 1 0 0 0 0 1
Deficiency of butyrylcholinesterase 0 0 0 0 0 1 1
Dystonic disorder; Nystagmus; Inability to walk 0 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 1
Global developmental delay; Microcephaly; Abnormal cerebellum morphology 0 1 0 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 1
X-linked syndromic intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 5 148 192 92 0 459
GeneDx 42 10 63 51 33 0 199
Ambry Genetics 5 1 20 16 9 0 51
Genetic Services Laboratory, University of Chicago 18 3 10 9 7 0 47
CeGaT Center for Human Genetics Tuebingen 5 2 16 14 1 0 38
Eurofins Ntd Llc (ga) 1 1 20 1 6 0 29
PreventionGenetics, part of Exact Sciences 0 2 1 14 3 0 20
OMIM 18 0 0 0 0 0 18
Mendelics 6 3 2 1 1 0 13
Revvity Omics, Revvity 2 1 6 0 0 0 9
3billion 3 5 1 0 0 0 9
Baylor Genetics 3 1 3 0 0 0 7
Diagnostic Laboratory, Strasbourg University Hospital 0 3 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 1 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 3 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 3 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 0 4
Dobyns Lab, Seattle Children's Research Institute 3 1 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 3 0 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Laboratory for Cytogenetics and Genome Research, KU Leuven 4 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 0 0 1 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 3 0 0 0 4
Athena Diagnostics Inc 0 0 1 0 2 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Centogene AG - the Rare Disease Company 0 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Illumina Laboratory Services, Illumina 2 0 1 0 0 0 3
ISCA site 1 1 2 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 1 0 0 3
Bionano Laboratories 1 0 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.