ClinVar Miner

Variants studied for early myoclonic encephalopathy

Included ClinVar conditions (20):
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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 not provided total
62 27 2016 1365 260 3 3700

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JMJD1C 0 0 780 413 60 0 1253
SIK1 5 2 419 417 83 0 911
CNTN2 18 10 306 322 29 0 675
KCND2 5 1 179 149 14 0 348
TBC1D24 7 5 148 29 29 2 217
SLC25A22 7 3 96 4 16 0 123
CNTN2, LOC126805985 3 0 25 26 4 0 58
SLC1A2 4 6 27 3 6 0 45
YEATS2 1 0 3 1 6 0 11
RAPGEF2 1 0 3 0 5 0 9
TNRC6A 1 0 2 0 6 0 9
SAMD12 3 0 2 0 0 0 5
STARD7 2 0 3 0 0 0 5
ADRA2B 0 0 4 0 0 1 4
MARCHF6 2 0 2 0 0 0 4
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 0 2 0 0 0 2
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 2
KCND2, TSPAN12 0 0 2 0 0 0 2
PRICKLE2 0 0 2 0 0 0 2
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, CACNA1S, CAMSAP2, CDK18, CHI3L1, CHIT1, CNTN2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PHLDA3, PIK3C2B, PKP1, PLEKHA6, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, ZBED6, ZC3H11A 0 0 1 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 0 0 1 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10, U2AF1 0 0 1 0 0 0 1
CCNF, TBC1D24 0 0 0 0 1 0 1
CHRNA2 0 0 1 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 1
EGR2, JMJD1C, NRBF2 0 0 1 0 0 0 1
JMJD1C, LOC129390177 0 0 0 0 1 0 1
LOC129934328, STARD7 0 0 1 0 0 0 1
LOC129993307, RAPGEF2 0 0 1 0 0 0 1
LOC130058245, TBC1D24 0 0 1 0 0 0 1
PIDD1 0 0 0 1 0 0 1
SCN1A 0 0 1 0 0 0 1
SCN2A 1 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 24 10 1688 1320 183 0 3225
Illumina Laboratory Services, Illumina 0 0 211 28 44 0 283
Genome-Nilou Lab 0 0 0 0 37 0 37
Fulgent Genetics, Fulgent Genetics 0 1 19 13 2 0 35
Revvity Omics, Revvity 0 0 30 0 0 0 30
OMIM 24 0 1 0 0 0 25
New York Genome Center 1 0 18 1 0 0 20
Baylor Genetics 0 1 14 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 0 0 13 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 3 0 0 12
Genetic Services Laboratory, University of Chicago 1 3 6 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 6 2 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 2 0 4
Mendelics 1 0 0 1 2 0 4
3billion 2 0 1 1 0 0 4
Neurogenetics, Research Centre for Medical Genetics 0 3 1 0 0 0 4
Centogene AG - the Rare Disease Company 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Medical Genetic Team, CHRU Montpellier 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Institute for Human Genetics, University Hospital Essen 1 0 0 0 0 0 1
The Walter and Eliza Hall Institute of Medical Research 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 1 0 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 1 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1

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