ClinVar Miner

Variants studied for Seizure; Intellectual disability

Coded as:
Minimum submission review status: Collection method:
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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 total
7 18 5 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SLC32A1 0 3 1 4
STX1A 0 3 1 4
HNRNPU 1 0 1 2
KDM5A 0 2 0 2
SCN8A 0 2 0 2
CACNA2D1 0 1 0 1
CACNA2D1, CD36, DMTF1, ELAPOR2, GNAI1, GNAT3, GRM3, HGF, LINC00972, LINC03017, LOC100128317, LOC101927269, LOC105369146, LOC110121304, LOC110121310, LOC111413046, LOC121175349, LOC123956173, LOC123956174, LOC123956175, LOC126860080, LOC126860081, LOC126860082, LOC126860083, LOC126860084, LOC126860085, LOC126860086, LOC126860087, LOC126860088, LOC126860089, LOC126860090, LOC126860091, LOC126860092, LOC126860093, LOC126860094, LOC126860095, LOC129389819, LOC129389820, LOC129998722, LOC129998723, LOC129998724, LOC129998725, LOC129998726, LOC129998727, LOC129998728, LOC129998729, LOC129998730, LOC129998731, LOC129998732, LOC129998733, LOC129998734, LOC129998735, LOC129998736, LOC129998737, LOC129998738, LOC129998739, LOC129998740, LOC129998741, LOC129998742, LOC129998743, LOC129998744, LOC129998745, LOC129998746, LOC129998747, LOC132089505, LOC132089506, LOC132089507, LOC132089508, LOC132089509, LOC132089510, LOC132089511, LOC132089512, LOC132090781, PCLO, SEMA3A, SEMA3C, SEMA3D, SEMA3E 0 1 0 1
CACNA2D1, HGF, LOC100128317, LOC110121310, LOC123956174, LOC126860086, LOC126860087, LOC126860088, LOC126860089, LOC126860090, LOC126860091, LOC129998724, LOC129998725, LOC129998726, LOC129998727, LOC129998728, LOC129998729, LOC129998730, LOC129998731, LOC129998732, LOC129998733, LOC129998734, LOC132089506, PCLO, SEMA3A, SEMA3E 0 1 0 1
CHRNA2 0 0 1 1
FOXP1 1 0 0 1
KCNA2 1 0 0 1
KCND3 0 1 0 1
KCNQ3 1 0 0 1
KDM5A, LOC126861410 1 0 0 1
MYOCD 0 1 0 1
OTOG 0 1 0 1
PPP3CA 1 0 0 1
SEC24D 0 1 0 1
SLC6A1 0 1 0 1
STXBP1 0 1 0 1
ZNF142 1 0 0 1
ZSWIM6 0 0 1 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance total
Institute of Human Genetics, University of Leipzig Medical Center 1 8 2 11
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 3 0 4
Baylor Genetics 1 0 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 2
Center for Medical Genetics Ghent, University of Ghent 0 2 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 1
New York Genome Center 0 0 1 1

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