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
38 25 439 582 305 1388

Gene and significance breakdown #

Total genes and gene combinations: 76
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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 32 21 64
KCNQ2 6 9 5 23 15 57
CHRNA4 1 0 13 32 9 55
PLCB1 0 0 7 22 12 41
GRN 0 0 20 12 5 37
TBC1D24 0 0 17 15 5 37
TPP1 0 1 14 11 11 37
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, LOC100507557 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
SNAP25 0 0 1 2 2 5
CHRNA4, LOC100130587 0 0 1 2 1 4
CSTB 0 0 1 3 0 4
LOC102724058, SCN1A 3 1 0 0 0 4
SCN1A 1 2 1 0 0 4
​intergenic 0 1 2 0 0 3
FANCI, POLG 0 0 0 0 3 3
CLCN2 0 0 2 0 0 2
MBD5 0 0 2 0 0 2
PRRT2 1 0 1 0 0 2
SCN2A 0 1 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
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
PRICKLE2 0 0 1 0 0 1
PTEN 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
TSC1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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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
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 1 2 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 1 0 0 0 1

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