ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy with suppression bursts

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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
1587 548 4782 5264 616 12796

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
SPTAN1 32 19 807 1059 144 2061
LOC102724058, SCN1A 420 139 466 476 39 1540
KCNQ2 328 104 481 506 52 1471
SCN8A 71 45 648 603 64 1431
SCN1A 447 126 446 362 38 1419
HCN1 10 4 316 362 30 722
STXBP1 116 27 162 302 49 656
CACNA2D2 22 11 260 330 23 646
KCNH5 2 2 280 290 70 643
ARHGEF15 0 1 329 188 36 554
SLC25A22 11 2 153 213 16 395
GNAO1 31 13 85 164 27 320
ST3GAL3 5 9 119 150 12 295
CACNA2D2, CYB561D2, LOC101928965, LOC127898564 10 4 114 133 6 267
CACNA2D2, CYB561D2, LOC127898564 2 0 43 85 5 135
LOC114803470, SCN8A 2 1 34 27 2 66
SNAP25 1 18 6 0 0 25
SCN2A 24 0 0 0 0 24
LOC130002651, STXBP1 3 0 5 9 3 20
CACNA1E 0 13 0 0 0 13
CHRNA4, KCNQ2 9 0 3 0 0 12
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 2 0 2 0 0 4
KCNB1 2 2 0 0 0 4
SCN1A, SCN9A 2 0 2 0 0 4
SCN1A, TTC21B 4 0 0 0 0 4
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 3 0 0 0 0 3
DYNC2I2, SPTAN1 1 0 1 1 0 3
EEF1A2, KCNQ2 2 0 1 0 0 3
GOT2 0 3 0 0 0 3
ARTN, ATP6V0B, B4GALT2, CCDC24, DPH2, IPO13, SLC6A9, ST3GAL3 0 1 1 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, TTC21B 0 0 2 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 0 1 0 2
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 2 0 0 0 0 2
LOC114827831, STXBP1 0 0 0 2 0 2
PIGP 0 0 2 0 0 2
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 1
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 1 0 0 0 0 1
ADGRG1, ADGRG3, ADGRG5, AMFR, ARL2BP, BBS2, CCDC102A, CCDC113, CCL17, CCL22, CETP, CFAP20, CIAPIN1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GNAO1, GOT2, HERPUD1, KATNB1, KIFC3, MIR138-2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NDRG4, NLRC5, NUDT21, NUP93, OGFOD1, PLLP, POLR2C, PRSS54, PSME3IP1, RSPRY1, SETD6, SLC12A3, SLC38A7, SPMIP8, USB1, ZNF319 1 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 1 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860771, LOC129390114, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 0 1
AKR1A1, ARMH1, ARTN, ATP6V0B, B4GALT2, BEST4, BTBD19, CCDC17, CCDC24, DMAP1, DPH2, DYNLT4, EIF2B3, ERI3, GPBP1L1, HECTD3, HPDL, IPO13, IPP, KIF2C, KLF17, MAST2, MMACHC, MUTYH, NASP, PIK3R3, PLK3, POMGNT1, PRDX1, PTCH2, RNF220, RPS8, SLC6A9, ST3GAL3, TESK2, TMEM53, TMEM69, TOE1, TSPAN1, UROD, ZSWIM5 0 0 1 0 0 1
AMIGO3, APEH, BSN, C3orf18, CACNA2D2, CAMKV, CDHR4, CISH, CYB561D2, DAG1, GMPPB, GNAI2, GNAT1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, INKA1, IP6K1, LSMEM2, MAPKAPK3, MON1A, MST1, MST1R, NAA80, NPRL2, RASSF1, RBM5, RBM6, RNF123, SEMA3B, SEMA3F, SLC38A3, TMEM115, TRAIP, TUSC2, UBA7, ZMYND10 1 0 0 0 0 1
ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NUP98, OSBPL5, PGAP2, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, SCT, SIGIRR, SLC22A18, SLC22A18AS, SLC25A22, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 0 0 1 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 1 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 1
CACNA2D2, CYB561D2, NPRL2, TMEM115, ZMYND10 0 0 1 0 0 1
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, RASSF7, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 1
CDKL5 1 0 0 0 0 1
CEND1, DEAF1, EPS8L2, GATD1, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 1
CHD2, LOC130057985 0 0 0 1 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 1 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 1 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC132090595, LOC132090596 1 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 1 0 0 0 0 1
EEF1A2, KCNQ2, PPDPF 1 0 0 0 0 1
FGF10, HCN1, MRPS30 0 0 1 0 0 1
GABRA2 0 0 1 0 0 1
GALNT3, SCN1A, TTC21B 1 0 0 0 0 1
GOT2, LOC126862363 0 1 0 0 0 1
HCN1, LOC126807381 0 0 1 0 0 1
ITPA 1 0 0 0 0 1
KCNC2 0 1 0 0 0 1
KCNQ2, LOC125387319 1 0 0 0 0 1
KCNQ2, LOC125387319, LOC129391211 1 0 0 0 0 1
LOC102724058, LOC129935046, LOC129935047, SCN1A, SCN9A, TTC21B 1 0 0 0 0 1
MAST3 0 0 1 0 0 1
MIR3911, STXBP1 0 1 0 0 0 1
NPHP3-ACAD11, UBA5 1 0 0 0 0 1
SCN1A, SCN9A, TTC21B 1 0 0 0 0 1
SCN3A 1 0 0 0 0 1
TNK2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1555 508 4770 5263 616 12712
Institute of Human Genetics, University of Leipzig Medical Center 1 18 6 0 0 25
Neurology Department, Shenzhen Children's Hospital 23 0 0 0 0 23
Yale Center for Mendelian Genomics, Yale University 0 13 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 7 0 0 7
TIDEX, University of British Columbia 0 4 0 0 0 4
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 1

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