ClinVar Miner

Variants studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
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Gene type:
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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
628 411 2739 522 178 1 10 31 4351

Gene and significance breakdown #

Total genes and gene combinations: 107
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
GRIN2A 39 14 192 116 22 0 0 0 376
DEPDC5 89 13 169 28 14 0 0 0 306
RELN 10 0 170 18 6 0 0 1 203
KCNT1 15 1 149 28 3 0 0 0 194
TPP1 33 50 82 8 4 0 0 25 177
CLN3 24 79 71 7 1 0 0 0 171
EFHC1 2 0 123 25 10 1 0 1 155
PPT1 21 86 47 3 1 0 0 1 145
KCNMA1 3 2 105 31 1 0 0 0 137
PRICKLE1 6 2 100 17 8 0 0 0 129
PRICKLE2 2 0 93 16 14 0 0 0 125
CHRNA4 6 1 95 10 5 0 0 1 116
KCTD7 8 8 76 12 7 0 0 0 108
CLN6 29 18 64 2 3 0 0 0 107
CACNB4 1 0 45 49 13 0 1 0 105
CLN5, FBXL3 24 42 44 1 3 0 0 0 98
CLN8 14 44 44 4 1 0 0 1 92
GABRA1 3 3 67 16 1 0 4 0 92
MFSD8 21 7 55 2 2 0 0 0 84
GOSR2, LRRC37A2 4 3 58 10 10 0 0 0 83
CHRNA2 3 1 67 6 2 0 0 0 78
CTSD 7 1 49 18 9 0 0 0 78
HBA-LCR, NPRL3 16 4 48 5 4 0 0 0 77
LGI1 24 1 46 6 0 0 0 0 77
SCARB2 24 1 49 2 2 0 0 0 75
CNTN2 1 0 62 6 3 0 0 0 72
LMNB2 1 0 63 5 1 0 0 0 70
NHLRC1 11 1 45 10 2 0 0 0 67
SERPINI1 5 0 34 13 4 0 0 0 55
LOC101927870, RELN 5 0 43 6 1 0 0 0 54
KCNC1 1 5 39 5 2 0 0 0 51
PRDM8 1 0 44 3 3 0 0 0 51
CHRNB2 7 1 37 4 1 0 0 0 50
CSTB 16 6 23 6 1 0 0 0 46
CLN5 4 7 28 2 2 0 0 0 42
EPM2A 9 1 32 0 1 0 0 0 42
CERS1, GDF1 2 1 29 7 0 0 0 0 39
CPA6 3 0 32 4 0 0 0 0 37
CPA6, LOC102724708 2 0 28 2 0 0 0 0 31
GRN 6 2 17 0 1 0 0 0 26
EPM2A, FBXO30-DT 2 0 18 1 2 0 0 0 22
DNAJC5 3 0 14 2 1 0 0 0 20
CTSF 8 0 2 0 4 0 0 0 14
GAL 1 0 10 1 0 0 0 0 12
NPRL3 2 0 8 1 0 0 0 0 11
SZT2 11 0 0 0 0 0 0 0 11
CHRNA4, LOC100130587 0 0 5 2 1 0 0 0 8
SCN3A 4 0 4 0 0 0 0 0 8
SPTAN1 7 0 1 0 0 0 0 0 8
NPRL2 4 1 2 0 0 0 0 0 7
CNTNAP2 6 0 0 0 0 0 0 0 6
CLCN2 0 0 3 0 1 0 1 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 5
CHD2 4 0 0 0 0 0 0 0 4
CILK1 0 0 0 0 0 0 4 0 4
KCNQ3 4 0 0 0 0 0 0 0 4
MT-TK 4 0 0 0 0 0 0 0 4
PDCD10, SERPINI1 0 0 1 2 1 0 0 0 4
RBFOX1 4 0 0 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 3
CRH 3 0 0 0 0 0 0 0 3
GABRG2 3 0 0 0 0 0 0 0 3
MT-TL1 3 0 0 0 0 0 0 0 3
SPAG1 3 0 0 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 0 0 3
CLN8, LOC101927752 0 0 2 0 0 0 0 0 2
CSTB, LOC109029533 2 0 0 0 0 0 0 0 2
KCNQ2 2 0 0 0 0 0 0 0 2
MARCHF6 2 0 0 0 0 0 0 0 2
MT-TI 2 0 0 0 0 0 0 0 2
NPR2, SPAG8 0 2 0 0 0 0 0 0 2
SAMD12 2 0 0 0 0 0 0 0 2
SCN2A 2 0 0 0 0 0 0 0 2
STARD7 2 0 0 0 0 0 0 0 2
TBC1D24 2 0 0 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 0 2
ABHD18, LARP1B, MFSD8, PLK4 0 0 1 0 0 0 0 0 1
ADRA2B 0 0 1 0 0 0 0 0 1
APOBR, CLN3, IL27, NUPR1, SGF29, SULT1A2 1 0 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 0 1
CACNA1G 0 0 0 0 0 0 0 1 1
CHRNA1 0 0 1 0 0 0 0 0 1
CHRNA4, KCNQ2 0 0 1 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 1
DEPDC5, RFPL2 0 1 0 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 0 1
GRIN2B 0 0 1 0 0 0 0 0 1
IER3IP1 1 0 0 0 0 0 0 0 1
ITSN2 0 1 0 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 0 0 1
MT-ND5 1 0 0 0 0 0 0 0 1
MT-TF 1 0 0 0 0 0 0 0 1
MT-TP 1 0 0 0 0 0 0 0 1
MT-TP, MT-TT 1 0 0 0 0 0 0 0 1
NPR2 0 1 0 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
RBFOX3 1 0 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 0 0 1
SIK1B 1 0 0 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
SMPD1 1 0 0 0 0 0 0 0 1
SNIP1 1 0 0 0 0 0 0 0 1
YEATS2 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 171 35 2017 229 57 0 0 0 2509
Illumina Clinical Services Laboratory,Illumina 7 0 545 261 78 0 0 0 890
Counsyl 20 164 62 6 1 0 0 0 253
OMIM 212 0 4 0 0 0 10 0 226
GeneReviews 158 0 20 0 1 0 0 0 179
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 149 0 0 0 0 0 0 151
Fulgent Genetics,Fulgent Genetics 13 2 107 0 0 0 0 0 122
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 111
Mendelics 13 23 13 11 7 0 0 0 66
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 26 0 0 0 0 0 28
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 5 1 0 10 12 0 0 0 28
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 5 15 0 0 0 0 0 26
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 22 22
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 6 8 0 0 0 0 0 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 1 0 8 11 0 0 0 21
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 7 11 0 0 0 21
Baylor Genetics 16 0 3 0 0 0 0 0 19
Integrated Genetics/Laboratory Corporation of America 13 6 0 0 0 0 0 0 19
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 12 4 0 0 0 0 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 1 4 0 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 11 2 1 0 0 0 0 0 14
Athena Diagnostics Inc 0 0 0 0 13 0 0 0 13
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 7 3 0 0 0 0 0 12
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 0 10
Institute of Human Genetics,Klinikum rechts der Isar 5 4 0 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 9 9
Broad Institute Rare Disease Group,Broad Institute 3 3 3 0 0 0 0 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 8 0 0 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 3 0 0 0 0 0 7
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 3 4 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 2 0 0 0 0 0 0 7
Undiagnosed Diseases Network,NIH 3 3 0 0 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 1 0 0 0 0 0 0 6
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 5 0 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 0 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 2 2 0 0 0 4
Natera Inc 0 0 2 1 1 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 1 0 0 0 0 0 0 3
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 3 0 0 0 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 2 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 0 2 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 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 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 0 1
Tim Yu lab,Boston Children's Hospital 1 0 0 0 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 1 0 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 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 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 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 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 0 1
Institute for Human Genetics,University Hospital Essen 1 0 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 0 1
The Walter and Eliza Hall Institute of Medical Research 1 0 0 0 0 0 0 0 1

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