ClinVar Miner

Variants studied for idiopathic generalized epilepsy

Included ClinVar conditions (36):
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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 association risk factor not provided total
157 88 2682 2761 910 1 18 12 6234

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
CACNA1H 1 1 1135 1495 699 0 4 6 3041
GABRG2 75 32 250 169 25 0 0 0 526
GABRA1 27 17 242 174 42 0 4 0 484
GABRB3 37 20 191 199 22 0 3 1 466
EFHC1 2 0 243 107 33 1 5 1 363
RBFOX1 0 0 174 165 16 0 0 0 355
GABRD 0 0 146 165 20 0 0 0 331
RBFOX3 0 0 113 148 13 0 0 0 272
CACNB4 1 1 97 70 19 0 1 2 186
CLCN2 2 8 20 20 3 0 1 0 52
LOC126862278, RBFOX1 0 0 20 18 3 0 0 0 41
LOC126862279, RBFOX1 0 0 19 16 3 0 0 0 38
GABRA6 0 0 3 7 11 0 0 0 21
CACNB4, LOC129934925 0 0 8 8 1 0 0 0 14
ADGRV1 1 5 0 0 0 0 0 0 6
GABRB3, LOC126862078 2 0 2 0 0 0 0 0 4
CACNA1G 0 0 0 0 0 0 0 2 2
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 0 0 2
ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 0 0 1
ABCA3, AMDHD2, ANTKMT, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FBXL16, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLX4, SNHG9, SOX8, SPSB3, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 0 0 1 0 0 0 0 0 1
ABCA3, ANTKMT, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CHTF18, CIAO3, CLCN7, CRAMP1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MLST8, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PIGQ, PKD1, PRR25, PTX4, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 0 0 0 1
ABCB1 0 1 0 0 0 0 0 0 1
AFMID, BIRC5, C17orf99, C1QTNF1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC40, CYTH1, DNAH17, EIF4A3, ENGASE, ENPP7, GAA, LGALS3BP, PGS1, RBFOX3, RNF213, SGSH, SLC26A11, SOCS3, SYNGR2, TBC1D16, TIMP2, TK1, TMC6, TMC8, TMEM235, USP36 0 0 1 0 0 0 0 0 1
ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FNDC10, GABRD, GNB1, INTS11, MIB2, MMP23B, MRPL20, MXRA8, NADK, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, VWA1 0 0 1 0 0 0 0 0 1
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, EME2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, IFT140, IGFALS, JMJD8, JPT2, LMF1, LUC7L, MAPK8IP3, MCRIP2, METRN, METTL26, MRPL28, MRPS34, MSLN, NHLRC4, NME3, NME4, NUBP2, PDIA2, PGAP6, PIGQ, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDL1, RHOT2, RPUSD1, SOX8, SPSB3, SSTR5, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1 0 0 1 0 0 0 0 0 1
ANTKMT, AXIN1, C1QTNF8, CACNA1H, CAPN15, CCDC78, CHTF18, CIAO3, DECR2, FBXL16, GNG13, HAGHL, JMJD8, LMF1, MCRIP2, METRN, METTL26, MRPL28, MSLN, NHLRC4, NME4, PGAP6, PIGQ, PRR25, PRR35, RAB11FIP3, RAB40C, RHBDL1, RHOT2, RPUSD1, SOX8, SSTR5, STUB1, WDR24, WDR90, WFIKKN1 0 0 1 0 0 0 0 0 1
ANTKMT, BAIAP3, C1QTNF8, CACNA1H, CCDC154, CCDC78, CHTF18, CIAO3, CLCN7, CRAMP1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PIGQ, PKD1, PRR25, PTX4, RAB40C, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 0 0 1 0 0 0 0 0 1
ANTKMT, C1QTNF8, CACNA1H, CCDC78, CHTF18, CIAO3, GNG13, HAGHL, LMF1, METRN, MSLN, PRR25, RPUSD1, SOX8, SSTR5 0 0 1 0 0 0 0 0 1
ARL5A, CACNB4, NEB 0 0 1 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3 1 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, OCA2 1 0 0 0 0 0 0 0 1
CALML6, CFAP74, FAAP20, GABRD, GNB1, MORN1, PEX10, PRKCZ, RER1, SKI, TMEM52 0 0 1 0 0 0 0 0 1
CAPRIN1 1 0 0 0 0 0 0 0 1
CASR 0 0 1 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 1
GABRA1, GABRA6 0 0 1 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 0 1
GABRA5, GABRB3, GABRG3, HERC2, OCA2 0 0 1 0 0 0 0 0 1
GABRB3, LOC126862077, LOC126862078 0 0 1 0 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 0 0 0 1
KCNIP1 1 0 0 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 0 1
SCN1B 0 0 1 0 0 0 0 0 1
SCN3A 0 0 1 0 0 0 0 0 1
SNAP25 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 136 52 2155 2577 878 0 0 0 5798
Fulgent Genetics, Fulgent Genetics 1 4 361 270 18 0 0 0 654
Illumina Laboratory Services, Illumina 0 0 236 86 31 0 0 0 352
Baylor Genetics 5 2 22 0 0 0 0 0 29
OMIM 6 0 4 0 0 0 18 0 28
New York Genome Center 0 0 27 0 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 3 1 7 0 0 0 0 0 11
Mendelics 3 3 2 0 2 0 0 0 10
Athena Diagnostics 0 0 0 0 9 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 4 3 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 0 0 0 8
Paris Brain Institute, Inserm - ICM 2 5 0 0 0 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 6 0 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 6 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 5 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 0 0 5
MGZ Medical Genetics Center 0 0 4 0 0 0 0 0 4
School Of Forensic, Xinxiang Medical University 0 4 0 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 0 0 0 3
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 1 1 0 0 1 0 0 3
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 3 0 0 0 0 0 0 3
3billion 0 0 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 1 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 0 2
Ambry Genetics 0 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 1
Neurogenetics group, VIB, Antwerp, Belgium 0 1 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 0 1

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