ClinVar Miner

Variants studied for DYRK1A-related intellectual disability syndrome

Included ClinVar conditions (2):
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 total
52 24 96 73 24 264

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYRK1A 50 24 95 73 24 261
B3GALT5, BRWD1, CLDN14, DSCAM, DSCR4, DSCR8, DYRK1A, ERG, ETS2, GET1, HLCS, HMGN1, IGSF5, KCNJ15, KCNJ6, LCA5L, LINC00114, PCP4, PIGP, PSMG1, RIPPLY3, SH3BGR, SIM2, TTC3, VPS26C 1 0 0 0 0 1
CLDN14, DYRK1A, HLCS, KCNJ6, PIGP, RIPPLY3, SIM2, TTC3, VPS26C 0 0 1 0 0 1
DSCR4, DSCR8, DYRK1A, ERG, ETS2, KCNJ15, KCNJ6, LINC00114 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 total
Invitae 19 3 89 73 23 207
UCLA Clinical Genomics Center, UCLA 8 3 0 0 0 11
Baylor Genetics 4 1 4 0 0 9
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 7
Service de Génétique Moléculaire,Hôpital Robert Debré 3 4 0 0 0 7
OMIM 5 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
GeneReviews 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
National Institute of Neuroscience,National Center of Neurology and Psychiatry 1 0 0 0 0 1

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