ClinVar Miner

Variants studied for autosomal dominant nocturnal frontal lobe epilepsy 5

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
36 17 743 990 120 5 1852

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNT1 33 17 737 990 120 5 1843
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

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 11 710 964 103 0 1818
Genome-Nilou Lab 0 0 64 172 71 0 307
Fulgent Genetics, Fulgent Genetics 1 0 8 7 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 8 1 0 0 10
Baylor Genetics 3 0 5 0 0 0 8
OMIM 7 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 3 3 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 1 0 5
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 1 0 0 0 5
GeneReviews 0 0 0 0 0 4 4
New York Genome Center 0 0 4 0 0 0 4
Illumina Laboratory Services, Illumina 0 0 3 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 0 0 0 3
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1

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