ClinVar Miner

Variants in gene DYRK1A

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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
74 26 59 88 11 1 241

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Mental retardation, autosomal dominant 7 31 10 25 19 8 0 90
not specified 0 0 12 66 7 0 85
not provided 40 14 18 3 2 1 77
History of neurodevelopmental disorder 0 0 3 12 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
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 38 13 19 62 6 0 138
Invitae 9 0 23 19 7 0 58
Ambry Genetics 10 0 4 12 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
Baylor Miraca Genetics Laboratories, 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
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 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 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 0 0 1 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
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
Laboratoire de Cytogenetique,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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