ClinVar Miner

Variants studied for cerebral malformation due to abnormal neuronal migration

Included ClinVar conditions (47):
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
163 58 495 172 132 4 1010

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 not provided total
FLNA 41 24 206 76 92 3 436
TSC1 5 1 93 82 21 0 200
ARFGEF2 3 0 80 10 1 1 94
TSC2 8 2 28 0 0 0 38
ADGRG1 20 3 14 0 0 0 37
LAMC3 4 0 9 2 13 0 28
TUBB2B 8 6 10 0 0 0 23
DCX 18 3 1 0 0 0 22
FLNA, LOC107988032 2 0 14 1 5 0 22
TUBB3 6 4 7 0 0 0 16
RTTN 6 0 2 0 0 0 8
MTOR 6 0 1 0 0 0 7
NEDD4L 4 1 3 0 0 0 7
TUBB2A 3 4 2 0 0 0 7
TUBA8 1 0 5 0 0 0 6
KIF2A 2 2 1 0 0 0 5
KIF5C 2 0 2 1 0 0 5
TUBB 4 0 1 0 0 0 5
EML1 4 0 0 0 0 0 4
FIG4 3 0 1 0 0 0 4
MAP1B 0 4 0 0 0 0 4
PAFAH1B1 3 0 0 0 0 0 3
TUBG1 3 0 0 0 0 0 3
ATP1A2 2 0 0 0 0 0 2
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 2 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
LAMA2 0 0 2 0 0 0 2
LAMA5 0 0 2 0 0 0 2
LINGO4 0 0 2 0 0 0 2
PI4KA 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
AKT3 0 1 0 0 0 0 1
BAG6 0 0 1 0 0 0 1
BORCS5 0 1 0 0 0 0 1
DYNC1H1 0 1 0 0 0 0 1
EHMT1 1 0 0 0 0 0 1
ENTPD1 0 0 1 0 0 0 1
ERMARD 1 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 1
NR2F1 0 0 1 0 0 0 1
NSDHL 0 0 1 0 0 0 1
SCN3A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 18 6 210 76 97 0 407
Illumina Clinical Services Laboratory,Illumina 0 0 167 92 21 0 280
OMIM 98 0 1 0 0 0 99
Genetic Services Laboratory, University of Chicago 19 9 22 0 0 0 50
Fulgent Genetics,Fulgent Genetics 8 1 41 0 0 0 50
Claritas Genomics 8 15 6 0 0 0 29
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 2 15 0 0 0 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 14 0 16
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 12 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 8 0 0 0 12
Baylor Miraca Genetics Laboratories, 1 1 5 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 2 0 0 0 6
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 1 2 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 4
Epi4K Consortium 0 4 0 0 0 0 4
Laboratoire de Cytogenetique,Hospices Civils de Lyon 3 0 1 0 0 0 4
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 2 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 2 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 0 0 0 3
Institute of Human Genetics,Cologne University 0 0 1 1 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 1 0 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Genetics Division,Universidade Federal de Sao Paulo 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Genetics Center,Sichuan Provincial People's Hospital 0 1 0 0 0 0 1

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