ClinVar Miner

Variants studied for familial hemiplegic migraine

Included ClinVar conditions (21):
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
134 79 622 474 156 46 1440

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A2 56 32 439 398 100 6 988
CACNA1A 27 26 50 14 24 31 155
LOC102724058, SCN1A 17 4 58 13 16 5 107
SCN1A 24 11 31 14 8 3 90
ATP1A2, LOC126805890 6 3 37 30 5 0 79
CACNA1A, LOC108663985 0 0 0 2 3 0 5
CACNA1A, LOC126862865 0 1 2 2 0 0 5
CACNA1A, LOC126862864 2 1 1 0 0 1 3
CACNA1A, LOC126862866 0 1 1 1 0 0 3
​intergenic 1 0 0 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
CACNA1A, LOC108663985, LOC129391066, LOC130063715, LOC130063716, LOC130063717, LOC130063718 1 0 0 0 0 0 1
WDR45 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 48 26 396 420 47 0 937
Illumina Laboratory Services, Illumina 0 0 133 39 68 0 240
Fulgent Genetics, Fulgent Genetics 16 3 54 23 4 0 100
Genome-Nilou Lab 0 0 0 0 88 0 88
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 33
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 10 12 2 0 0 32
OMIM 29 0 0 0 0 0 29
UniProtKB/Swiss-Prot 0 0 0 0 0 19 19
GenomeConnect - Brain Gene Registry 0 0 0 0 0 16 16
GeneReviews 0 0 0 0 0 14 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 9 1 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 4 2 7 0 0 0 13
Center of Excellence for Medical Genomics, Chulalongkorn University 11 2 0 0 0 0 13
Baylor Genetics 1 3 5 0 0 0 9
Athena Diagnostics 0 0 0 0 8 0 8
New York Genome Center 0 0 8 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 3 0 0 0 5
MGZ Medical Genetics Center 0 0 4 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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 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 Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
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
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
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 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics, 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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