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
33 10 26 19 8 93

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 31 10 26 19 8 91
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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 0 23 19 7 58
UCLA Clinical Genomics Center, UCLA 8 3 0 0 0 11
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 7
Baylor Miraca Genetics Laboratories, 4 1 1 0 0 6
OMIM 5 0 0 0 0 5
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 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 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 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
Laboratoire de Cytogenetique,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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