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
36 12 39 9 1 94

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYRK1A 34 12 39 9 1 92
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
DSCR4, DSCR8, DYRK1A, ERG, ETS2, KCNJ15, KCNJ6, LINC00114 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 0 34 9 0 54
UCLA Clinical Genomics Center, UCLA 8 3 0 0 0 11
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 7
Baylor Genetics 4 1 1 0 0 6
OMIM 5 0 0 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
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1
GeneReviews 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1

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