ClinVar Miner

Variants studied for Seizures

Coded as:
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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 total
42 28 439 583 305 1396

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SZT2 0 0 56 54 20 130
KCNT1 0 1 16 55 14 86
SPTAN1 1 0 16 48 19 84
POLG 9 2 24 20 13 68
DEPDC5 4 0 19 24 18 65
SIK1 0 0 11 33 21 65
KCNQ2 7 9 5 23 15 58
CHRNA4 1 0 13 32 9 55
PLCB1 0 0 7 22 12 41
GRN 0 0 20 12 5 37
TPP1 0 1 14 11 11 37
TBC1D24 0 0 16 15 5 36
CTSF 1 0 13 9 7 30
KCNQ3 0 0 6 14 10 30
CHRNA2 0 0 11 12 6 29
CTSD 0 0 11 10 8 29
PRICKLE1 0 0 13 8 7 28
MFSD8 0 3 12 7 5 27
SLC25A22 0 0 7 12 7 26
ALDH7A1 4 0 11 4 6 25
SLC13A5 1 0 8 11 3 23
CLN3 0 0 10 7 5 22
EEF1A2 0 0 3 11 8 22
CHRNB2 0 0 6 8 3 17
CLN8 0 0 7 6 4 17
GABRA1 1 0 3 9 3 16
SCARB2 0 0 6 7 3 16
CLN6 1 1 6 4 3 15
GABRG2 1 0 4 4 6 15
NHLRC1 0 0 6 5 3 14
SCN1B 1 0 4 5 4 14
CLN5 0 0 5 5 3 13
CLN5, FBXL3 1 0 5 3 4 13
EPM2A 0 0 6 6 1 13
KCNC1 0 0 2 9 2 13
KCTD7 0 0 4 6 2 12
EPM2A, FBXO30-DT 0 0 6 2 3 11
TBL1XR1 0 0 2 8 1 11
CRH 0 0 2 5 3 10
GABRB3 0 0 2 3 5 10
DNAJC5 0 0 0 8 1 9
GOSR2, LRRC37A2 0 1 4 1 3 9
KCNA2 0 0 1 6 2 9
LGI1 0 0 2 7 0 9
PNPO 0 0 3 1 4 8
STX1B 1 1 0 4 1 7
LOC102724058, SCN1A 4 1 0 0 0 5
SNAP25 0 0 1 2 2 5
CHRNA4, LOC100130587 0 0 1 2 1 4
CSTB 0 0 1 3 0 4
SCN1A 1 2 1 0 0 4
​intergenic 0 1 2 0 0 3
FANCI, POLG 0 0 0 0 3 3
SCN2A 1 1 1 0 0 3
CLCN2 0 0 2 0 0 2
KCNT2 1 1 0 0 0 2
MBD5 0 0 2 0 0 2
PRRT2 1 0 1 0 0 2
TSC2 0 0 2 0 0 2
ALDH5A1, GPLD1 0 0 1 0 0 1
ANKRD11 0 0 1 0 0 1
ARR3, DLG3, GDPD2, KIF4A, P2RY4, PDZD11, RAB41 0 1 0 0 0 1
CACNA1A 0 0 1 0 0 1
CCNF, TBC1D24 0 0 1 0 0 1
CDK11B 0 0 1 0 0 1
CHRNA1 0 0 1 0 0 1
FOLR1 0 0 1 0 0 1
FOXRED1 0 0 1 0 0 1
GATM 0 0 1 0 0 1
GRIN2B 0 0 1 0 0 1
HNRNPU 0 0 1 0 0 1
MIR6766, POLG 0 0 0 0 1 1
MT-ND4 0 0 1 0 0 1
PDHB 0 0 1 0 0 1
PIGG 0 1 0 0 0 1
PRICKLE2 0 0 1 0 0 1
PTEN 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SNX14 0 1 0 0 0 1
TSC1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 32 16 405 582 305 1340
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 25 0 0 26
Genetic Services Laboratory, University of Chicago 4 7 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 7 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 0 1 0 4
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 2 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 2
Department of Medical Genetics,Hunan Provincial Maternal and Child Health Care Hospital 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 0 0 0 1

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