ClinVar Miner

Variants studied for sleep-related hypermotor epilepsy

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
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
48 24 962 1072 194 16 2248

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNT1 33 18 740 991 120 5 1849
CHRNA2 2 1 83 6 56 3 146
PRIMA1 4 0 63 64 6 0 137
CHRNA4 3 2 43 3 10 4 62
CHRNB2 3 3 21 6 1 2 34
CHRNA4, LOC100130587 0 0 2 2 1 0 5
CHRNA4, LOC126863087 0 0 3 0 0 2 5
SPAG1 3 0 0 0 0 0 3
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CLIC3, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, MAMDC4, MAN1B1, MIR126, NACC2, NOTCH1, NPDC1, PAXX, PHPT1, PMPCA, PTGDS, QSOX2, RABL6, SAPCD2, SEC16A, SNAPC4, SNHG7, TMEM141, TMEM250, TRAF2, UAP1L1, UBAC1 0 0 1 0 0 0 1
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 0 0 1 0 0 0 1
KCNT1, SOHLH1 0 0 1 0 0 0 1
OPLAH 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 34 11 777 1029 109 0 1960
Genome-Nilou Lab 0 0 64 172 82 0 318
Illumina Laboratory Services, Illumina 0 0 58 4 55 0 117
Fulgent Genetics, Fulgent Genetics 1 0 27 17 1 0 46
Revvity Omics, Revvity 1 0 27 0 0 0 28
Baylor Genetics 3 1 16 0 0 0 20
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 15 2 0 0 18
New York Genome Center 0 0 15 0 0 0 15
OMIM 14 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 4 6 1 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 8 0 1 0 9
GeneReviews 0 0 0 0 0 8 8
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 2 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
Athena Diagnostics 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Suma Genomics, Suma Genomics 1 0 0 0 0 0 1

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