ClinVar Miner

Variants studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (96):
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 risk factor not provided total
691 405 3014 1094 595 19 36 5595

Gene and significance breakdown #

Total genes and gene combinations: 113
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GRIN2A 36 8 194 137 35 0 0 393
DEPDC5 89 12 167 68 30 0 0 355
KCNT1 14 0 159 99 47 0 0 317
RELN 10 0 171 53 45 0 1 275
CHD2 52 9 96 34 26 0 1 215
TPP1 31 48 81 21 19 0 25 200
CLN3 22 78 69 16 8 0 0 182
EFHC1 2 0 124 31 26 0 1 170
CHRNA4 6 1 104 30 25 0 1 163
KCNMA1 3 2 106 46 17 0 0 157
PPT1 21 85 47 7 2 0 1 149
PRICKLE1 6 2 100 29 19 0 0 142
PRICKLE2 2 0 92 20 23 0 0 135
CLN6 28 16 62 12 12 0 0 120
KCTD7 8 7 77 25 8 0 0 119
CACNB4 1 0 44 49 13 1 0 105
CLN8 13 38 44 18 4 0 1 105
SLC6A1 14 7 49 19 16 0 1 105
CTSD 7 1 49 39 14 0 0 103
CHRNA2 3 0 67 24 9 0 0 101
CLN5, FBXL3 23 41 43 3 5 0 0 101
GABRA1 3 1 67 21 7 4 0 99
MFSD8 19 4 55 12 10 0 0 97
GOSR2, LRRC37A2 4 3 58 19 11 0 0 90
HBA-LCR, NPRL3 16 3 48 12 11 0 0 90
SCARB2 23 1 49 15 6 0 0 89
LGI1 24 1 48 13 4 0 0 88
LMNB2 1 0 64 12 5 0 0 82
NHLRC1 10 0 47 17 5 0 0 76
DNM1 8 4 32 19 11 0 0 74
GABRB3 6 4 43 16 3 3 0 74
GABRG2 9 8 39 12 4 2 0 72
CHRNB2 7 1 40 12 12 0 0 70
LOC101927870, RELN 5 0 45 11 10 0 0 69
KCNC1 1 3 40 13 7 0 0 63
PRDM8 1 0 45 6 11 0 0 63
SERPINI1 5 0 35 16 12 0 0 61
EPM2A 9 0 33 6 5 0 0 52
CSTB 16 6 23 9 3 0 0 49
CERS1, GDF1 2 0 29 8 4 0 0 43
CLN5 3 6 28 4 5 0 0 43
CPA6 3 0 32 5 0 0 0 37
DNAJC5 3 0 14 13 7 0 0 37
CPA6, LOC102724708 2 0 27 8 4 0 0 35
GRN 6 2 17 3 6 0 0 34
SRPX2 1 1 23 8 4 0 0 34
CACNA1H 0 0 16 0 7 4 2 29
EPM2A, LOC100507557 2 0 19 4 3 0 0 26
GAL 1 0 10 5 3 0 0 19
CTSF 7 0 3 0 4 0 0 14
NPRL3 2 0 8 2 0 0 0 12
GABRA6 0 0 4 5 2 0 0 11
SZT2 11 0 0 0 0 0 0 11
CHRNA4, LOC100130587 0 0 5 2 3 0 0 10
SPTAN1 7 0 1 0 0 0 0 8
SCN3A 4 0 3 0 0 0 0 7
CNTNAP2 6 0 0 0 0 0 0 6
NPRL2 4 0 2 0 0 0 0 6
TBC1D24 6 0 0 0 0 0 0 6
CIZ1, DNM1 1 0 1 2 1 0 0 5
CLCN2 0 0 3 0 1 1 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 5
CILK1 0 0 0 0 0 4 0 4
KCNQ3 4 0 0 0 0 0 0 4
MT-TK 4 0 0 0 0 0 0 4
PDCD10, SERPINI1 0 0 1 2 1 0 0 4
RBFOX1 4 0 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 3
CRH 3 0 0 0 0 0 0 3
KCNQ2 2 0 1 0 0 0 0 3
MT-TL1 3 0 0 0 0 0 0 3
SPAG1 3 0 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 0 3
CSTB, LOC109029533 2 0 0 0 0 0 0 2
LMNB2, MIR7108 0 0 0 2 0 0 0 2
LOC102724058, SCN1A 1 0 0 0 0 0 1 2
MT-TI 2 0 0 0 0 0 0 2
SCN1B 1 0 1 0 0 0 0 2
SCN2A 2 0 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 2
ABHD18, LARP1B, MFSD8, PLK4 0 0 1 0 0 0 0 1
APOBR, CLN3, IL27, NUPR1, SGF29, SULT1A2 1 0 0 0 0 0 0 1
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 0 0 1 0 0 0 0 1
CACNA1G 0 0 0 0 0 0 1 1
CHRNA1 0 0 1 0 0 0 0 1
CHRNA4, KCNQ2 0 0 1 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 1
CLN8, LOC101927752 0 0 1 0 0 0 0 1
DEPDC5, RFPL2 0 1 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 1
GATM 0 0 1 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 1
GRIN2B 0 0 1 0 0 0 0 1
IER3IP1 1 0 0 0 0 0 0 1
ITSN2 0 1 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 0 1
MT-ND5 1 0 0 0 0 0 0 1
MT-TF 1 0 0 0 0 0 0 1
MT-TP 1 0 0 0 0 0 0 1
MT-TP, MT-TT 1 0 0 0 0 0 0 1
NEXMIF 1 0 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 0 1
POLG 0 0 1 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 1
SIK1B 1 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 0 1
SNIP1 1 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 205 55 2293 819 485 0 0 3856
Illumina Clinical Services Laboratory,Illumina 7 0 545 261 78 0 0 890
OMIM 236 0 5 0 0 19 0 260
Counsyl 18 158 60 6 1 0 0 243
GeneReviews 181 0 20 0 1 0 0 202
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 149 0 0 0 0 0 151
Fulgent Genetics,Fulgent Genetics 15 2 129 0 0 0 0 146
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 111
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 5 1 0 11 19 0 0 36
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 31 0 0 0 0 35
Genomic Research Center,Shahid Beheshti University of Medical Sciences 6 6 16 0 0 0 0 28
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 1 0 8 16 0 0 26
UniProtKB/Swiss-Prot 0 0 0 0 0 0 23 23
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 7 11 0 0 21
Baylor Genetics 10 4 5 0 0 0 0 19
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 1 8 0 0 0 0 19
Integrated Genetics/Laboratory Corporation of America 13 6 0 0 0 0 0 19
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 12 4 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 11 3 1 0 0 0 0 15
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 0 15
Athena Diagnostics Inc 0 0 0 0 13 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 13 13
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 10 0 0 0 0 11
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 3 7 0 0 0 0 11
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 1 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 4 4 0 0 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 3 0 0 0 0 7
Mendelics 2 3 0 1 0 0 0 6
Undiagnosed Diseases Network,NIH 3 3 0 0 0 0 0 6
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 2 3 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 1 0 0 0 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 1 4 0 0 0 0 0 5
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 5 0 0 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 0 1 2 2 0 0 5
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 1 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 3 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 1 0 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 1 0 0 0 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 1
Neurogenetics group,VIB, Antwerp, Belgium 0 1 0 0 0 0 0 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 0 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 1 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 1
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 0 1
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 1
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 0 1

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