ClinVar Miner

Variants studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (44):
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
316 108 539 227 114 7 1273

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KIF1A 20 26 172 86 40 1 335
SYNGAP1 67 16 60 44 19 0 202
MBD5 16 1 121 30 15 1 181
GRIN2B 14 7 78 43 26 1 162
GRIN1 12 8 39 16 12 0 85
MEF2C 18 2 13 7 2 3 44
DYNC1H1 10 9 18 0 0 0 37
TLK2 13 5 6 0 0 0 22
ZBTB18 10 5 0 0 0 0 15
ASH1L 10 0 2 0 0 0 12
DEAF1 6 4 4 0 0 0 12
STAG1 6 4 1 0 0 0 11
TBL1XR1 5 5 1 0 0 0 11
MYT1L 7 2 1 0 0 0 10
CAMK2A 8 1 0 0 0 0 9
KMT5B 7 1 3 0 0 0 9
NAA15 8 0 1 0 0 0 9
ARID2 8 2 0 0 0 0 8
CLTC 6 0 3 0 0 0 8
GNB1 5 2 1 0 0 0 8
TRIP12 7 1 0 0 0 0 8
CAMK2B 7 1 0 0 0 0 7
CHAMP1 6 0 1 0 0 0 7
CIC 6 0 1 0 0 0 7
HIVEP2 7 0 0 0 0 0 7
EEF1A2 2 2 1 0 0 0 5
KCNQ5 4 0 1 0 0 0 5
KIRREL3 0 1 3 0 0 1 5
SET 5 0 0 0 0 0 5
CDH15 3 0 1 1 0 0 4
CERT1 1 0 2 0 0 0 3
NUS1 3 0 0 0 0 0 3
DPP6 1 0 1 0 0 0 2
EPB41L1 1 0 1 0 0 0 2
​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
B3GALT4, COL11A2, CUTA, DAXX, HCG25, HSD17B8, KIFC1, MIR219A1, MIR5004, MIR6834, MIR6873, PFDN6, PHF1, RGL2, RING1, RPS18, RXRB, SLC39A7, SMIM40, SYNGAP1, TAPBP, VPS52, WDR46, ZBTB22 0 0 1 0 0 0 1
CACNG2 1 0 0 0 0 0 1
CERT1, POLK 1 0 0 0 0 0 1
DPP6, LOC101929998 1 0 0 0 0 0 1
EPC2, KIF5C, MBD5, ORC4 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
MBD5, ORC4 1 0 0 0 0 0 1
MIR5004, SYNGAP1 0 0 1 0 0 0 1
MMP20 0 0 1 0 0 0 1
MYT1L, PXDN, SNTG2, TMEM18, TPO 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 17 455 220 113 0 869
OMIM 176 0 3 0 0 0 179
Baylor Miraca Genetics Laboratories, 11 13 12 0 0 0 36
Fulgent Genetics,Fulgent Genetics 4 4 25 1 0 0 34
SIB Swiss Institute of Bioinformatics 8 8 12 0 1 0 29
Genetic Services Laboratory, University of Chicago 12 8 2 0 0 0 22
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 18 0 0 0 18
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 3 11 0 0 0 15
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 8 5 2 0 0 0 15
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 9 5 0 0 0 0 14
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 5 8 0 0 0 0 13
CHU Sainte-Justine Research Center,University of Montreal 2 9 0 0 0 0 11
Laboratoire de Cytogenetique,Hospices Civils de Lyon 7 4 0 0 0 0 11
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 4 1 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 3 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 3 0 0 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 2 0 0 0 0 5
Undiagnosed Diseases Network,NIH 3 2 0 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 1 0 3 0 0 5
GeneReviews 4 0 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 1 0 0 0 4
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 3 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 3 0 0 0 4
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 3 0 0 0 0 4
Center for Human Genetics, Inc 1 0 1 1 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 3
Elsea Lab, Dept of Molecular and Human Genetics,Baylor College of Medicine 3 0 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 3 0 0 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 2 0 0 0 0 0 2
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 1 0 0 0 2
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 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
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 1
Centro Hospitalar S Joao,Faculty of Medicine of Porto 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 1 0 0 0 0 1

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