ClinVar Miner

Variants studied for Landau-Kleffner syndrome

Included ClinVar conditions (4):
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 total
141 15 194 116 22 481

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GRIN2A 39 14 191 116 22 375
DEPDC5 11 0 0 0 0 11
SZT2 11 0 0 0 0 11
SPTAN1 7 0 1 0 0 8
CNTNAP2 6 0 0 0 0 6
RELN 5 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 5
CHD2 4 0 0 0 0 4
KCNQ3 4 0 0 0 0 4
RBFOX1 4 0 0 0 0 4
ASAH1 3 0 0 0 0 3
GABRG2 3 0 0 0 0 3
KCNQ2 2 0 1 0 0 3
LOC101927870, RELN 3 0 0 0 0 3
PRICKLE1 3 0 0 0 0 3
STRADA 3 0 0 0 0 3
CPA6 2 0 0 0 0 2
SCARB2 2 0 0 0 0 2
SCN2A 2 0 0 0 0 2
WWOX 2 0 0 0 0 2
CPA6, LOC102724708 1 0 0 0 0 1
CSTB 1 0 0 0 0 1
EPM2A 1 0 0 0 0 1
GRIN1 1 0 0 0 0 1
GRIN2B 0 0 1 0 0 1
IER3IP1 1 0 0 0 0 1
ITSN2 0 1 0 0 0 1
KCNT1 1 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 1
NEXMIF 1 0 0 0 0 1
PCDH19 1 0 0 0 0 1
PLCB1 1 0 0 0 0 1
PRICKLE2 1 0 0 0 0 1
RBFOX3 1 0 0 0 0 1
SCN1A 1 0 0 0 0 1
SCN1B 1 0 0 0 0 1
SIK1B 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 1
SLC6A1 1 0 0 0 0 1
SNIP1 1 0 0 0 0 1
TBC1D24 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 80 92 21 193
Invitae 12 3 98 19 0 132
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 111 0 0 0 0 111
Mendelics 0 3 3 7 1 14
OMIM 12 0 0 0 0 12
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 4 0 0 12
GeneReviews 7 0 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 1 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Ambulatório de Genética Médica,Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1

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