ClinVar Miner

Variants studied for Epileptic encephalopathy

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
45 68 577 89 26 804

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RYR3 0 0 280 22 10 312
FASN 0 0 187 36 1 224
MAPK10 0 0 24 21 11 56
GABBR2 0 0 30 3 3 36
AVEN, RYR3 0 0 24 2 1 27
PNKP 0 0 20 5 0 25
UGDH 1 23 0 0 0 23
KCNB1 13 6 0 0 0 19
KCNQ2 4 5 0 0 0 9
STXBP1 7 2 0 0 0 9
SCN2A 2 5 0 0 0 7
SCN8A 2 2 1 0 0 5
CDKL5 4 0 0 0 0 4
HNRNPU 4 0 0 0 0 4
GABRB3 0 3 0 0 0 3
AP3B2, CPEB1 0 2 0 0 0 2
ATP7B 0 1 1 0 0 2
GRIN2A 0 0 2 0 0 2
HCN1 0 2 0 0 0 2
KCTD7 0 2 0 0 0 2
LOC102724058, SCN1A 2 0 0 0 0 2
SLC13A5 0 2 0 0 0 2
USP19 2 0 0 0 0 2
WWOX 0 2 0 0 0 2
ALG13 0 0 1 0 0 1
ATP1A2 0 0 1 0 0 1
ATP1A3 0 1 0 0 0 1
C12orf65 0 1 0 0 0 1
CACNA2D2 0 1 0 0 0 1
CDKL5, RS1 0 0 1 0 0 1
DEPDC5 0 0 1 0 0 1
FOLR1 0 1 0 0 0 1
GABRD 0 0 1 0 0 1
GNAO1 0 1 0 0 0 1
GRIA3 0 1 0 0 0 1
GRIN2B 0 0 1 0 0 1
IDUA, SLC26A1 0 0 1 0 0 1
KCNT1 0 0 1 0 0 1
LOC114827831, STXBP1 1 0 0 0 0 1
MECP2 1 0 0 0 0 1
MEF2C 0 1 0 0 0 1
PURA 0 1 0 0 0 1
SCN1A 1 0 0 0 0 1
SLC35A2 0 1 0 0 0 1
SPTAN1 1 0 0 0 0 1
SYNGAP1 0 1 0 0 0 1
TRIT1 0 1 0 0 0 1
WASF1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 521 63 15 599
Illumina Clinical Services Laboratory,Illumina 0 0 44 26 11 81
Neurogenetics Laboratory - MEYER,AOU Meyer 19 15 9 0 0 43
Section for Clinical Neurogenetics,University of Tübingen 0 23 0 0 0 23
NIHR Bioresource Rare Diseases, University of Cambridge 5 14 0 0 0 19
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades,CHU Paris - Hôpital Necker-Enfants Malades 13 6 0 0 0 19
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 2 0 0 6
Baylor Genetics 4 0 1 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 0 0 3
Laboratory of Molecular Genetics,CHU RENNES 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1

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