ClinVar Miner

Variants studied for childhood electroclinical syndrome

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 association risk factor not provided total
602 341 2919 2735 480 1 16 33 6869

Gene and significance breakdown #

Total genes and gene combinations: 85
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
GRIN2A 137 137 654 718 169 0 0 10 1707
CHD2 184 84 626 685 81 0 0 4 1630
CACNA1H 0 1 364 247 23 0 4 5 641
GABRG2 76 32 250 169 25 0 0 0 526
GABRB3 43 34 204 200 22 0 3 2 493
GABRA1 27 17 242 174 42 0 4 0 484
DNM1 14 12 160 247 41 0 0 0 469
EFHC1 2 0 239 107 33 1 3 1 360
CACNB4 1 1 46 46 12 0 1 2 107
DNM1, LOC113839516 2 8 37 45 8 0 0 0 99
CLCN2 2 8 20 20 3 0 1 0 52
CHD2, LOC126862230 5 0 13 24 1 0 0 0 43
CIZ1, DNM1 2 3 14 14 3 0 0 0 35
DNM1, LOC130002698 2 1 10 15 2 0 0 0 30
DNM1, LOC130002699 1 0 11 9 3 0 0 0 24
GABRA6 0 0 3 7 11 0 0 0 21
DEPDC5 11 0 0 0 0 0 0 0 11
SZT2 11 0 0 0 0 0 0 0 11
SPTAN1 7 0 1 0 0 0 0 0 8
CACNB4, LOC129934925 0 0 3 4 1 0 0 0 6
CNTNAP2 6 0 0 0 0 0 0 0 6
KCNQ3 4 0 0 0 0 0 0 1 5
RELN 5 0 0 0 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 5
SCN2A 2 0 1 0 0 0 0 2 5
DNM1, LOC130002697 0 0 0 4 0 0 0 0 4
GABRB3, LOC126862078 2 0 2 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 3
PRICKLE1 3 0 0 0 0 0 0 0 3
RBFOX1 3 0 0 0 0 0 0 0 3
RELN, SLC26A5 3 0 0 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 0 0 3
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 1 0 1 0 0 0 0 0 2
CACNA1G 0 0 0 0 0 0 0 2 2
CPA6 2 0 0 0 0 0 0 0 2
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 0 0 2
GRIN2B 0 0 1 0 0 0 0 1 2
KCNQ2 0 0 0 0 0 0 0 2 2
LOC102724058, SCN1A 1 0 0 0 0 0 0 1 2
SCARB2 2 0 0 0 0 0 0 0 2
SCN1B 1 0 1 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 0 2
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 0 0 1 0 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 0 0 0 0 0 0 1
ARFGEF1-DT, CPA6 1 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3 1 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, OCA2 1 0 0 0 0 0 0 0 1
CAPRIN1 1 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 1
CHRNA4 0 0 1 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 0 0 1
CSTB 1 0 0 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 1
EPM2A 1 0 0 0 0 0 0 0 1
GABRA1, GABRA6 0 0 1 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 0 1
GABRA5, GABRB3, GABRG3, HERC2, OCA2 0 0 1 0 0 0 0 0 1
GABRB3, LOC126862077, LOC126862078 0 0 1 0 0 0 0 0 1
GATM 0 0 1 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 0 1
GRIN2A, LOC130058418 0 1 0 0 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 0 0 0 1
IER3IP1 1 0 0 0 0 0 0 0 1
ITSN2 0 0 1 0 0 0 0 0 1
KCNT1 1 0 0 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 0 1
LOC102724428 1 0 0 0 0 0 0 0 1
LOC126805704, SNIP1 1 0 0 0 0 0 0 0 1
LOC126862279, RBFOX1 1 0 0 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 0 0 1
POLG 0 0 1 0 0 0 0 0 1
PRICKLE2 1 0 0 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 0 1
SCN3A 0 0 1 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 1
SLC6A1 1 0 0 0 0 0 0 0 1
TBC1D24 1 0 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 120
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 410 124 1932 2348 312 0 0 0 5126
Fulgent Genetics, Fulgent Genetics 4 4 375 280 19 0 0 0 682
Illumina Laboratory Services, Illumina 0 0 392 97 155 0 0 0 643
Institute of Human Genetics, University of Leipzig Medical Center 11 97 33 5 0 0 0 0 146
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 111
Revvity Omics, Revvity 3 2 54 3 0 0 0 0 62
OMIM 40 0 5 0 0 0 16 0 61
Baylor Genetics 9 8 44 0 0 0 0 0 61
New York Genome Center 0 4 39 0 0 0 0 0 43
Mendelics 9 9 8 7 2 0 0 0 35
Génétique des Maladies du Développement, Hospices Civils de Lyon 11 10 7 0 0 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 3 13 1 0 0 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 1 2 16 0 0 0 0 0 19
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 15 0 0 0 0 0 17
3billion 3 5 6 3 0 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 8 4 0 0 0 0 14
Genome-Nilou Lab 0 0 0 0 13 0 0 0 13
MGZ Medical Genetics Center 1 4 6 0 0 0 0 0 11
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 2 7 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 10 1 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 8 0 0 0 11
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 11 11
GenomeConnect, ClinGen 0 0 0 0 0 0 0 10 10
Athena Diagnostics 0 0 0 0 9 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 7 0 0 0 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 5 0 0 0 8
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 8 0 0 0 0 0 0 8
GeneReviews 0 0 0 0 0 0 0 7 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 6 0 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 4 0 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 3 1 0 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 1 4 0 0 0 0 0 5
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 0 0 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 0 0 4
Cavalleri Lab, Royal College of Surgeons in Ireland 3 1 0 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 3 0 0 0 0 0 4
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 0 0 4
DASA 2 2 0 0 0 0 0 0 4
School Of Forensic, Xinxiang Medical University 0 4 0 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 0 0 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 2 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 1 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 0 0 0 0 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 0 0 2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 1 0 0 1 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 0 0 2
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 2 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 0 1
Neurogenetics group, VIB, Antwerp, Belgium 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 0 1
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 0 1

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