ClinVar Miner

Variants in gene CASK

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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
91 44 117 75 41 4 324

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 40 13 43 19 13 1 127
Mental retardation, CASK-related, X-linked 5 2 51 42 24 0 124
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 38 15 7 1 1 0 60
not specified 0 0 7 19 14 0 36
History of neurodevelopmental disorder 1 0 5 6 6 0 18
FG syndrome 4 8 1 3 0 0 0 12
Inborn genetic diseases 2 1 5 0 0 0 8
Intellectual disability 0 3 3 0 0 0 6
See cases 2 2 2 0 0 0 6
Congenital cerebellar hypoplasia 0 4 0 0 0 0 4
CASK-Related Disorder 1 0 0 0 0 2 3
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4 1 2 0 0 0 0 3
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 0 0 1
Congenital cerebellar hypoplasia; Dystonia; Global developmental delay; Visual impairment; Generalized hypotonia 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Global developmental delay; Hypertonia; Nystagmus; Congenital microcephaly 0 1 0 0 0 0 1
Deficiency of butyrylcholine esterase 0 0 0 0 0 1 1
Dystonia; Nystagmus; Inability to walk 0 1 0 0 0 0 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 1 0 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 2 51 46 31 0 135
GeneDx 34 7 10 14 10 0 75
Genetic Services Laboratory, University of Chicago 17 2 8 8 7 0 42
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 20 1 6 0 29
Ambry Genetics 3 1 10 6 6 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 8 3 0 0 16
OMIM 12 0 0 0 0 0 12
Mendelics 3 3 1 1 1 0 9
Baylor Genetics 2 0 3 0 0 0 5
ISCA site 1 1 2 2 0 0 0 5
Diagnostic Laboratory, Strasbourg University Hospital 0 3 2 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory for Cytogenetics and Genome Research,KU Leuven 4 0 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 1 3 0 0 0 0 4
Athena Diagnostics Inc 0 0 1 0 2 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Lineagen, Inc 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 Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 1 0 0 0 0 1
Clinical Genetics laboratory, 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
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
Institute of Human Genetics,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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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