ClinVar Miner

Variants in gene DYRK1A

Minimum submission review status: Collection method:
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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
110 42 129 159 38 1 443

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, autosomal dominant 7 50 24 94 73 24 0 260
not provided 49 17 22 33 13 1 134
not specified 0 0 15 68 7 0 89
Complex neurodevelopmental disorder 18 3 0 0 0 0 21
History of neurodevelopmental disorder 0 0 2 13 3 0 18
Inborn genetic diseases 13 0 2 0 0 0 15
Intellectual disability 9 1 1 2 0 0 13
Seizures; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 5 1 0 0 0 0 6
See cases 0 1 2 0 0 0 3
Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 2 0 0 0 0 0 2
Global developmental delay 1 0 0 0 0 0 1
Global developmental delay; Microphthalmia; Microcephaly; Generalized seizures 1 0 0 0 0 0 1
Intellectual disability syndrome due to a DYRK1A point mutation 0 0 1 0 0 0 1
Seizures 0 0 1 0 0 0 1
Seizures; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 3 88 84 23 0 217
GeneDx 42 13 19 72 17 0 163
Ambry Genetics 13 0 4 13 3 0 33
Genetic Services Laboratory, University of Chicago 4 3 7 8 2 0 24
GenomeConnect - Simons Searchlight 18 3 0 0 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 6 0 3 3 0 0 12
Diagnostic Laboratory, Strasbourg University Hospital 7 1 1 1 0 0 10
Baylor Genetics 4 1 4 0 0 0 9
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 7 2 0 0 0 0 9
UCLA Clinical Genomics Center, UCLA 6 3 0 0 0 0 9
Service de Génétique Moléculaire,Hôpital Robert Debré 3 4 0 0 0 0 7
Athena Diagnostics Inc 0 0 3 0 3 0 6
Integrated Genetics/Laboratory Corporation of America 0 1 4 1 0 0 6
OMIM 5 0 0 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 2 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 1 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 1 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 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 University 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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