ClinVar Miner

Variants studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (27):
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 not provided total
222 90 218 41 8 4 563

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MEF2C 26 12 41 36 6 3 119
HIVEP2 12 4 19 1 0 0 36
CIC 7 2 23 3 0 0 35
TRIP12 14 6 15 0 0 0 35
ASH1L 11 1 20 0 0 0 32
TLK2 18 6 7 0 0 1 30
ZBTB18 13 10 4 0 0 0 27
ARID2 14 4 7 0 2 0 25
STAG1 8 6 12 0 0 0 25
GNB1 11 6 5 0 0 0 20
NAA15 11 2 6 0 0 0 19
CLTC 11 3 6 0 0 0 18
KCNQ5 5 4 9 0 0 0 18
TBL1XR1 6 7 6 0 0 0 18
KMT5B 8 2 7 0 0 0 15
TRIO 5 2 5 0 0 0 12
CAMK2A 8 3 0 0 0 0 11
SET 6 2 3 0 0 0 11
CAMK2B 7 1 2 0 0 0 9
MED13 3 1 5 0 0 0 9
DLG4 6 1 1 0 0 0 8
DPP6 1 0 7 0 0 0 8
NUS1 4 0 3 0 0 0 7
CERT1 2 0 4 1 0 0 6
​intergenic 1 0 0 0 0 0 1
AMOTL2, ANAPC13, BFSP2, C3orf36, CDV3, CEP63, EPHB1, KY, MSL2, PCCB, PPP2R3A, RAB6B, RYK, SLCO2A1, SRPRB, STAG1, TF, TMEM108, TOPBP1 0 1 0 0 0 0 1
AP2M1 1 1 0 0 0 0 1
CLTC, PTRH2 0 1 0 0 0 0 1
DPP6, LOC101929998 1 0 0 0 0 0 1
IL20RB, LOC112903838, MSL2, NCK1, NCK1-DT, PCCB, PPP2R3A, SLC35G2, STAG1 0 1 0 0 0 0 1
LOC112903838, MSL2, PCCB, PPP2R3A, STAG1 0 1 0 0 0 0 1
MEF2C, MIR9-2 1 0 0 0 0 0 1
MMP20 0 0 1 0 0 0 1
MRC2, TLK2 0 1 0 0 0 0 1
WDR1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 128 0 0 0 0 0 128
Invitae 13 6 35 36 6 0 96
Baylor Genetics 8 12 75 0 0 0 95
Institute of Human Genetics, University of Leipzig Medical Center 5 6 19 2 1 0 33
SIB Swiss Institute of Bioinformatics 13 10 9 0 0 0 32
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 25 1 0 0 29
Mendelics 6 2 8 2 0 0 18
New York Genome Center 0 0 18 0 0 0 18
Institute of Human Genetics, Klinikum rechts der Isar 9 3 0 0 0 0 12
GenomeConnect - Simons Searchlight 6 4 2 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 8 0 1 0 10
GeneReviews 9 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 7 0 0 0 0 9
Service de Génétique Moléculaire,Hôpital Robert Debré 1 6 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 2 1 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 1 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 0 2 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 4 0 0 0 0 5
Undiagnosed Diseases Network,NIH 3 2 0 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 5 0 0 0 5
Laboratory of Medical Genetics, University of Torino 4 1 0 0 0 0 5
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 3 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 2 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 3 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 2 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 2 0 0 0 0 3
Clinical Genomics Program, Stanford Medicine 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 0 0 0 0 2
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Centro Hospitalar S Joao,Faculty of Medicine of Porto 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
KK Women’s and Children’s Hospital 0 1 0 0 0 0 1
Center for Medical Genetics, Keio University School of Medicine 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1

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