ClinVar Miner

Variants in gene DYRK1A

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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
83 29 77 134 34 1 331

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, autosomal dominant 7 35 14 48 41 20 0 154
not provided 45 14 19 32 13 1 123
not specified 0 0 12 66 7 0 85
History of neurodevelopmental disorder 0 0 2 13 3 0 18
Inborn genetic diseases 10 0 1 0 0 0 11
Seizures; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 5 1 0 0 0 0 6
Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 2 0 0 0 0 0 2
Intellectual disability 2 0 0 0 0 0 2
See cases 0 0 2 0 0 0 2
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; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 42 13 19 72 17 0 163
Invitae 12 2 44 60 19 0 137
Ambry Genetics 10 0 3 13 3 0 29
Genetic Services Laboratory, University of Chicago 4 3 9 6 2 0 24
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
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 2 1 0 0 7
Baylor Genetics 4 1 1 0 0 0 6
Athena Diagnostics Inc 0 0 3 0 3 0 6
OMIM 5 0 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 2 1 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Diagnostic Laboratory,Strasbourg University Hospital 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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
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
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 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

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