ClinVar Miner

Variants studied for cerebral malformation due to abnormal neuronal migration

Included ClinVar conditions (60):
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 risk factor not provided total
225 100 970 301 271 3 8 1838

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FLNA 68 31 392 239 123 0 3 844
TSC1 5 1 157 32 84 0 0 277
ARFGEF2 5 2 138 4 9 0 1 158
ADGRG1 21 6 83 13 22 0 0 140
TSC2 9 3 32 0 0 0 0 44
LAMC3 5 0 20 2 13 0 0 40
FLNA, LOC107988032 4 2 22 4 5 0 0 36
TUBB2B 8 10 15 1 1 0 0 34
ADGRG1, ADGRG3 0 0 16 1 11 0 0 28
DCX 19 6 2 1 0 0 0 26
RTTN 6 0 14 0 1 0 0 21
TUBB3 7 6 9 0 0 0 0 20
MTOR 8 0 6 0 0 0 1 15
NEDD4L 4 3 9 0 0 0 0 15
TUBB2A 3 9 5 0 1 0 0 15
MAP1B 7 4 4 0 0 3 0 11
PI4KA 3 1 7 0 0 0 0 11
TUBB 5 2 3 0 0 0 1 10
FIG4 5 1 2 0 0 0 0 8
KIF2A 4 3 2 0 0 0 0 8
TUBA8 0 0 8 0 0 0 0 8
KIF5C 2 0 3 2 0 0 1 7
EML1 5 1 0 0 0 0 0 6
ERMARD 1 0 2 1 1 0 0 5
TUBG1 3 0 1 1 0 0 0 5
APC2 4 0 0 0 0 0 0 4
ARF1 3 1 0 0 0 0 0 4
CTNNA2 3 0 1 0 0 0 0 4
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 3 0 0 0 0 3
PAFAH1B1 3 0 0 0 0 0 0 3
TUBA1A 1 1 0 0 0 0 1 3
ATP1A2 2 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 2
LAMA2 0 0 2 0 0 0 0 2
LAMA5 0 0 2 0 0 0 0 2
LINGO4 0 0 2 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 1
BAG6 0 0 1 0 0 0 0 1
BORCS5 0 1 0 0 0 0 0 1
DHX37 0 1 0 0 0 0 0 1
DYNC1H1 0 1 0 0 0 0 0 1
EHMT1 1 0 0 0 0 0 0 1
ENTPD1 0 0 1 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 0 1
NR2F1 0 0 1 0 0 0 0 1
NSDHL 0 0 1 0 0 0 0 1
OFD1 0 1 0 0 0 0 0 1
PEX1 0 0 1 0 0 0 0 1
SCN3A 0 1 0 0 0 0 0 1
SETD5 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 43 11 403 242 128 0 0 827
Illumina Clinical Services Laboratory,Illumina 0 0 353 45 124 0 0 522
OMIM 114 0 2 0 0 0 0 116
Baylor Genetics 9 6 52 0 0 0 0 67
Genetic Services Laboratory, University of Chicago 19 9 22 0 0 0 0 50
Fulgent Genetics,Fulgent Genetics 8 1 41 0 0 0 0 50
Natera, Inc. 3 0 17 5 7 0 0 32
Claritas Genomics 8 15 6 0 0 0 0 29
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 3 17 0 0 0 0 26
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 5 17 0 0 0 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 14 0 0 16
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 5 10 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 13 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 3 5 6 0 0 0 0 14
Service de Génétique Moléculaire,Hôpital Robert Debré 3 3 2 4 0 0 0 12
Mendelics 3 1 1 1 3 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 8 8
Institute of Human Genetics, Klinikum rechts der Isar 4 3 0 0 0 0 0 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 0 2 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 2 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 2 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 1 0 0 0 0 4
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 0 4
Epi4K Consortium 0 4 0 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 1 2 0 1 0 0 4
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 0 3
deCODE genetics, Amgen 0 0 0 0 0 3 0 3
Genetics Institute, Tel Aviv Sourasky Medical Center 0 3 0 0 0 0 0 3
Engle Laboratory,Boston Children's Hospital 1 1 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 1 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 1 1 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 1 0 0 0 0 0 2
Nilou-Genome Lab 0 0 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Genetics Division,Universidade Federal de Sao Paulo 0 1 0 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Molecular Genetics Center,Sichuan Provincial People's Hospital 0 1 0 0 0 0 0 1
Department of Molecular Bıology and Genetics,Istanbul Technical University 0 1 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 0 1 0 0 0 0 0 1

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