ClinVar Miner

Variants studied for seizures, benign familial neonatal, 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
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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
68 56 24 3 7 92 233

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNQ2 66 46 24 3 7 90 219
CHRNA4, KCNQ2 0 2 0 0 0 0 2
KCNQ2, LOC125387319 1 0 0 0 0 1 2
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BIRC7, CHRNA4, COL20A1, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, NKAIN4, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ATP1A3 1 0 0 0 0 0 1
CHRNA4, COL20A1, KCNQ2 0 1 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, SRMS 0 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2 0 1 0 0 0 0 1
EEF1A2, KCNQ2 0 1 0 0 0 0 1
KCNQ2, LOC129391211 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneReviews 11 0 0 0 0 91 102
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 25 0 0 0 0 27
Mendelics 10 6 0 1 3 0 20
Fulgent Genetics, Fulgent Genetics 4 2 8 2 0 0 16
Génétique des Maladies du Développement, Hospices Civils de Lyon 11 5 0 0 0 0 16
OMIM 8 0 0 0 0 0 8
Center of Excellence for Medical Genomics, Chulalongkorn University 7 0 0 0 0 0 7
MGZ Medical Genetics Center 1 3 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 3 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 4 0 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 2 0 0 0 4
Athena Diagnostics 0 0 0 0 3 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Baylor Genetics 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia of Catanzaro 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 1 0 0 0 0 0 1

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