ClinVar Miner

Variants studied for Epileptic encephalopathy

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
62 87 2128 2141 328 4743

Gene and significance breakdown #

Total genes and gene combinations: 77
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FASN 0 0 1038 1109 117 2264
RYR3 0 0 660 451 130 1240
GABBR2 3 1 314 481 65 864
AVEN, RYR3 0 0 33 41 9 83
FASN, LOC129390948 0 0 33 20 4 57
GABBR2, LOC126860700 0 1 14 27 3 45
UGDH 1 23 0 0 0 23
AVEN, LOC126862094, RYR3 0 0 13 9 0 22
KCNB1 13 6 0 0 0 19
STXBP1 7 3 0 0 0 10
KCNQ2 4 5 0 0 0 9
SCN2A 2 6 0 0 0 8
SCN8A 2 3 1 0 0 6
CDKL5 4 1 0 0 0 5
LOC102724058, SCN1A 2 3 0 0 0 5
GABRB3 0 3 1 0 0 4
HNRNPU 4 0 0 0 0 4
ANKS6, GABBR2, GALNT12 0 0 0 2 0 2
AP3B2, CPEB1 0 2 0 0 0 2
ATP2B2 1 1 0 0 0 2
ATP7B 0 1 1 0 0 2
DEPDC5 0 0 2 0 0 2
GRIN2A 0 0 2 0 0 2
HCN1 0 2 0 0 0 2
KCNMA1 1 0 1 0 0 2
KCTD7 0 2 0 0 0 2
LARP7 2 0 0 0 0 2
MECP2 2 0 0 0 0 2
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
ANKS6, ANP32B, CORO2A, FOXE1, GABBR2, HEMGN, NANS, NCBP1, TBC1D2, TDRD7, TMOD1, TRIM14, TRMO, TSTD2, XPA 0 0 1 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 1
ATP1A2 0 0 1 0 0 1
ATP1A3 0 1 0 0 0 1
AVEN, LOC126862094, LOC126862095, LOC132090300, RYR3 0 0 1 0 0 1
AVEN, RYR3, RYR3-DT 0 0 1 0 0 1
CACNA1A 0 0 1 0 0 1
CACNA1A, LOC126862864 0 1 0 0 0 1
CACNA2D2 0 1 0 0 0 1
CCDC57, CD7, CSNK1D, CYBC1, FASN, FN3K, FN3KRP, FOXK2, HEXD, HEXD-IT1, NARF, OGFOD3, RAB40B, SECTM1, SLC16A3, TBCD, TEX19, UTS2R, WDR45B, ZNF750 0 0 1 0 0 1
CDKL5, RS1 0 0 1 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 1
EPHA4 0 0 1 0 0 1
FOLR1 0 1 0 0 0 1
GABRA1 0 1 0 0 0 1
GABRD 0 0 1 0 0 1
GABRG2 0 0 1 0 0 1
GNAO1 1 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
KCNA1 0 1 0 0 0 1
KCNT1 0 0 1 0 0 1
LOC114827831, STXBP1 1 0 0 0 0 1
MEF2C 0 1 0 0 0 1
MTRFR 0 1 0 0 0 1
PCDH19 0 1 0 0 0 1
PIGA 0 1 0 0 0 1
PPP3CA 1 0 0 0 0 1
PRMT7 0 1 0 0 0 1
PTEN 0 0 1 0 0 1
PURA 0 1 0 0 0 1
SCN1B 0 1 0 0 0 1
SIK1 0 0 0 1 0 1
SLC2A1 0 1 0 0 0 1
SLC35A2 0 1 0 0 0 1
SMC1A 1 0 0 0 0 1
SNHG14, UBE3A 1 0 0 0 0 1
SPTAN1 1 0 0 0 0 1
STX1B 0 1 0 0 0 1
SYNGAP1 0 1 0 0 0 1
TNK2 1 0 0 0 0 1
TRIT1 0 1 0 0 0 1
WASF1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 2 2108 2140 328 4581
Neurogenetics Laboratory - MEYER, AOU Meyer 20 15 9 0 0 44
Section for Clinical Neurogenetics, University of Tübingen 0 23 0 0 0 23
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 5 12 6 0 0 23
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 13 6 0 0 0 19
NIHR Bioresource Rare Diseases, University of Cambridge 5 14 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 3 0 1 0 6
Baylor Genetics 4 0 1 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 1 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 2 0 0 0 2
Medical Genetics Laboratory, CHRU Nancy 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 1 0 0 0 0 1

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