ClinVar Miner

Variants in gene CASK

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Gene type:
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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
139 78 343 306 121 4 885

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Intellectual disability, CASK-related, X-linked 28 7 168 229 98 0 530
not provided 55 20 156 67 30 1 314
Syndromic X-linked intellectual disability Najm type 51 33 17 2 0 0 98
Inborn genetic diseases 6 0 30 20 10 0 66
not specified 0 0 14 23 19 0 53
FG syndrome 4 14 6 18 0 0 0 37
CASK-related disorder 1 2 4 15 4 2 28
Intellectual disability 1 4 3 0 0 0 8
Syndromic X-linked intellectual disability Najm type; FG syndrome 4 2 3 1 0 0 0 6
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
Neurodevelopmental disorder 2 0 1 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 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
FG syndrome 0 0 0 0 1 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: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 28 7 168 229 98 0 530
GeneDx 48 11 104 51 33 0 247
Ambry Genetics 6 0 30 20 10 0 66
Genetic Services Laboratory, University of Chicago 18 3 10 9 7 0 47
CeGaT Center for Human Genetics Tuebingen 5 2 18 19 1 0 45
Eurofins Ntd Llc (ga) 1 1 20 1 6 0 29
PreventionGenetics, part of Exact Sciences 0 2 3 15 4 0 24
Breakthrough Genomics, Breakthrough Genomics 0 0 1 11 10 0 22
OMIM 18 0 0 0 0 0 18
Mendelics 6 3 2 1 1 0 13
3billion 3 7 2 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 5 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 6 0 0 0 10
Revvity Omics, Revvity 2 1 6 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 1 7 0 0 0 8
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 3 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 1 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 2 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 3 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 3 0 0 0 4
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
Athena Diagnostics 0 0 1 0 2 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
Fulgent Genetics, Fulgent Genetics 1 0 1 1 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 1 0 0 0 3
Bionano Laboratories 1 0 1 0 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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 2 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 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
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1

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