ClinVar Miner

Variants studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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 risk factor not provided total
559 360 2155 992 536 10 29 4411

Gene and significance breakdown #

Total genes and gene combinations: 103
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GRIN2A 33 7 157 137 35 0 0 354
DEPDC5 80 8 120 68 30 0 0 296
KCNT1 11 0 117 99 47 0 0 273
RELN 10 0 123 53 45 0 1 227
TPP1 27 47 61 21 19 0 25 176
CLN3 18 76 50 16 8 0 0 160
CHRNA4 6 1 88 30 25 0 0 147
EFHC1 2 0 100 31 26 0 1 146
PPT1 16 84 43 7 2 0 0 140
KCNMA1 3 2 85 46 17 0 0 136
PRICKLE1 6 2 89 29 19 0 0 131
PRICKLE2 2 0 81 20 23 0 0 124
KCTD7 8 7 70 25 8 0 0 112
CLN6 26 16 50 12 12 0 0 107
CACNB4 1 0 44 49 13 1 0 105
CLN8 11 38 34 18 4 0 1 94
GABRA1 3 1 60 21 7 4 0 93
CLN5, FBXL3 20 40 33 3 5 0 0 90
CTSD 7 1 30 39 14 0 0 85
CHRNA2 3 0 46 24 9 0 0 80
MFSD8 17 4 40 12 10 0 0 80
SCARB2 23 1 38 15 6 0 0 78
GOSR2, LRRC37A2 3 3 46 19 11 0 0 77
LGI1 23 1 38 13 4 0 0 77
CNTN2 1 0 41 13 15 0 0 70
NHLRC1 9 0 41 17 5 0 0 69
CHRNB2 7 1 33 12 12 0 0 63
HBA-LCR, NPRL3 12 2 26 12 11 0 0 63
LMNB2 1 0 40 12 5 0 0 58
KCNC1 1 2 34 13 7 0 0 56
LOC101927870, RELN 5 0 31 11 10 0 0 55
SERPINI1 5 0 28 16 12 0 0 54
PRDM8 1 0 33 6 11 0 0 51
CSTB 15 6 22 9 3 0 0 47
EPM2A 9 0 26 6 5 0 0 45
CLN5 3 6 21 4 5 0 0 36
CERS1, GDF1 2 0 20 8 4 0 0 34
DNAJC5 2 0 11 13 7 0 0 33
CPA6, LOC102724708 2 0 23 8 4 0 0 31
CPA6 3 0 24 5 0 0 0 29
GRN 6 2 6 3 6 0 0 23
EPM2A, LOC100507557 1 0 16 4 3 0 0 22
GAL 1 0 8 5 3 0 0 17
CTSF 7 0 2 0 4 0 0 13
NPRL3 2 0 7 2 0 0 0 11
SZT2 11 0 0 0 0 0 0 11
CHRNA4, LOC100130587 0 0 3 2 3 0 0 8
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
CLCN2 0 0 3 0 1 1 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 5
CHD2 4 0 0 0 0 0 0 4
ICK 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
GABRG2 3 0 0 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
KCNQ2 2 0 0 0 0 0 0 2
LMNB2, MIR7108 0 0 0 2 0 0 0 2
MT-TI 2 0 0 0 0 0 0 2
SCN2A 2 0 0 0 0 0 0 2
TBC1D24 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
ADRA2B 1 0 0 0 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3A, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 0 0 1 0 0 0 0 1
APOBR, CLN3, IL27, NUPR1, SGF29, SULT1A2 1 0 0 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
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
LOC102724058, SCN1A 1 0 0 0 0 0 0 1
MAF, WWOX 1 0 0 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
PCDH19 1 0 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 1
SAMD12 1 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 1
SCN1B 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
SLC6A1 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

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 116 24 1455 718 433 0 0 2746
Illumina Clinical Services Laboratory,Illumina 7 0 545 261 78 0 0 890
Counsyl 18 158 60 6 1 0 0 243
OMIM 210 0 3 0 0 10 0 223
GeneReviews 158 0 20 0 1 0 0 179
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 149 0 0 0 0 0 151
Fulgent Genetics 13 2 107 0 0 0 0 122
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 10 12 0 0 28
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 25 0 0 0 0 27
Genomic Research Center,Shahid Beheshti University of Medical Sciences 6 5 13 0 0 0 0 24
UniProtKB/Swiss-Prot 0 0 0 0 0 0 22 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 1 0 8 11 0 0 21
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 7 11 0 0 21
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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 1 4 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 11 2 1 0 0 0 0 14
Athena Diagnostics Inc 0 0 0 0 13 0 0 13
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 10
Baylor Miraca Genetics Laboratories, 6 0 3 0 0 0 0 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 8 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Mendelics 2 3 0 1 0 0 0 6
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 3 0 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 4 0 0 0 0 6
Undiagnosed Diseases Network,NIH 3 3 0 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
HudsonAlpha Institute for Biotechnology 3 2 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 2 2 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 3 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
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 2 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 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
Division of Medical Genetics; Sainte-Justine Hospital 1 0 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
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

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