ClinVar Miner

Variants studied for hypnic headache

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
152 98 695 525 151 46 1592

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A2 62 37 482 443 100 6 1084
CACNA1A 28 26 56 14 20 31 158
LOC102724058, SCN1A 17 8 59 13 16 5 112
SCN1A 27 14 38 14 7 3 102
ATP1A2, LOC126805890 7 3 43 36 5 0 91
CACNA1A, LOC108663985 0 0 0 2 3 0 5
CACNA1A, LOC126862865 0 1 2 2 0 0 5
NOTCH3 1 4 0 0 0 0 5
CACNA1A, LOC126862864 2 1 1 0 0 1 3
CACNA1A, LOC126862866 0 1 1 1 0 0 3
CAPN3 2 0 0 0 0 0 2
MYH6 0 0 2 0 0 0 2
​intergenic 1 0 0 0 0 0 1
AHNAK2 0 0 1 0 0 0 1
ATP1A2, ATP1A4, CASQ1, COPA, DCAF8, DCAF8-DT, NCSTN, PEA15, PEX19 0 0 1 0 0 0 1
ATP1A2, IGSF8, KCNJ10, KCNJ9 0 0 1 0 0 0 1
BRCA2 1 0 0 0 0 0 1
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718 1 0 0 0 0 0 1
CLCN1 0 1 0 0 0 0 1
DGUOK 0 0 1 0 0 0 1
DGUOK, LOC129934096 0 0 1 0 0 0 1
DSP 0 0 1 0 0 0 1
EMD, FLNA 1 0 0 0 0 0 1
FLNA 1 0 0 0 0 0 1
LOC126859827, TAB2 0 1 0 0 0 0 1
MAP2K2 0 0 1 0 0 0 1
MT-ND1 0 1 0 0 0 0 1
PPOX 1 0 0 0 0 0 1
SCN5A 0 0 1 0 0 0 1
SLC2A1 0 0 1 0 0 0 1
STIM1 0 0 1 0 0 0 1
WDR45 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 54 27 445 471 47 0 1044
Illumina Laboratory Services, Illumina 0 0 133 39 68 0 240
Fulgent Genetics, Fulgent Genetics 20 5 61 23 4 0 113
Genome-Nilou Lab 0 0 0 0 88 0 88
Centre for Mendelian Genomics, University Medical Centre Ljubljana 13 13 21 2 0 0 49
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 33
OMIM 29 0 0 0 0 0 29
UniProtKB/Swiss-Prot 0 0 0 0 0 19 19
Juno Genomics, Hangzhou Juno Genomics, Inc 5 7 7 0 0 0 19
GenomeConnect - Brain Gene Registry 0 0 0 0 0 16 16
GeneReviews 0 0 0 0 0 14 14
Institute of Human Genetics, University of Leipzig Medical Center 4 2 8 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 9 1 0 0 14
Center of Excellence for Medical Genomics, Chulalongkorn University 11 2 0 0 0 0 13
Baylor Genetics 1 3 5 0 0 0 9
New York Genome Center 0 0 9 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 4 0 0 0 8
MGZ Medical Genetics Center 0 0 4 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 1 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 1 0 0 0 3
Molecular Genetics Lab, CHRU Brest 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
DASA 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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