ClinVar Miner

Variants studied for Epilepsy

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
40 10 341 287 26 703

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PIGQ 30 2 299 257 19 607
LOC102724058, SCN1A 0 0 20 17 3 40
SCN1A 2 1 10 9 3 25
ARHGEF9 0 0 1 2 1 4
CHRNA1 0 0 2 0 0 2
SCN8A 1 1 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 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 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 1 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 1
APTX 1 0 0 0 0 1
ARFGEF1-DT, CPA6 0 1 0 0 0 1
ARHGDIG, AXIN1, CAPN15, DECR2, FAM234A, LUC7L, MRPL28, NHLRC4, NME4, PDIA2, PGAP6, PIGQ, PRR35, RAB11FIP3, RGS11 1 0 0 0 0 1
ARHGDIG, AXIN1, CAPN15, DECR2, FAM234A, MRPL28, NHLRC4, NME4, PDIA2, PGAP6, PIGQ, PRR35, RAB11FIP3, RGS11 0 0 1 0 0 1
ATP1A2 0 1 0 0 0 1
CHD2 1 0 0 0 0 1
COBLL1, SCN3A, SLC38A11 0 0 1 0 0 1
COL9A3, MRGBP, NTSR1, OGFR, TCFL5 0 0 1 0 0 1
CSRNP3, GALNT3, SCN2A, SCN3A 1 0 0 0 0 1
DEPDC5 1 0 0 0 0 1
GRIN2A 0 1 0 0 0 1
IER3IP1 0 0 0 1 0 1
KCNT1 0 0 0 1 0 1
LOC100287175, LOC121530607, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, MCRIP2, METTL26, PIGQ, RAB40C, TRG-CCC2-2, WFIKKN1 0 0 1 0 0 1
NR4A2 0 1 0 0 0 1
PCDH19 1 0 0 0 0 1
SCN2A 1 0 0 0 0 1
SCN9A 0 0 1 0 0 1
SETD1B 0 1 0 0 0 1
TANC2 0 1 0 0 0 1
TTC21B 1 0 0 0 0 1
URB2 0 0 1 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 31 2 304 257 19 613
Illumina Laboratory Services, Illumina 0 0 30 26 6 62
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 4 3 1 10
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 4
Center of Medical Genomics-TUH, Thammasat University 4 0 0 0 0 4
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 2 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 1

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