ClinVar Miner

Variants studied for central nervous system cancer

Included ClinVar conditions (39):
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 other not provided total
487 551 3878 3432 191 1 7 17 8435

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
SMARCA4 118 54 2030 2261 115 0 0 1 4548
SDHA 156 85 1246 808 53 0 0 9 2298
SDHB 165 63 508 318 20 0 0 1 1047
TP53 18 192 6 5 2 0 0 0 215
LOC129929542, SDHB 6 1 27 26 0 0 0 0 60
SDHAF2 4 10 31 4 1 0 0 2 50
PIK3CA 0 47 0 0 0 0 0 0 47
EGFR 0 13 0 0 0 0 0 0 13
LOC129929541, SDHB 3 0 1 9 0 0 0 0 13
PTEN 0 9 0 0 0 0 0 1 10
BRAF 0 8 0 0 0 0 0 0 8
DICER1 6 1 0 0 0 0 0 0 7
MTOR 0 7 0 0 0 0 0 0 7
IDH1 0 5 1 0 0 0 0 1 6
ALK 0 3 2 0 0 0 0 0 5
FBXW7 0 5 0 0 0 0 0 0 5
FGFR1 0 5 0 0 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 0 5
ACVR1 0 4 0 0 0 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 0 4
LOC129929541, LOC129929542, SDHB 2 0 2 0 0 0 0 0 4
BRCA2 1 0 2 0 0 0 0 0 3
H3-3A 0 2 0 0 0 0 1 0 3
HRAS, LRRC56 0 3 0 0 0 0 0 0 3
PTPN11 0 3 0 0 0 0 0 0 3
ATM, C11orf65 1 1 0 0 0 0 0 0 2
ATRX 1 0 1 0 0 0 0 0 2
CIC 0 2 0 0 0 0 0 0 2
CTNNB1, LOC126806658 0 2 0 0 0 0 0 0 2
FANCA 0 0 2 0 0 0 0 0 2
H3C11 0 2 0 0 0 0 0 0 2
LOC129929542, LOC129929543, SDHB 2 0 0 0 0 0 0 0 2
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4 1 0 1 0 0 0 0 0 2
NF1 0 0 2 0 0 0 0 0 2
PIK3R1 0 2 0 0 0 0 0 0 2
PMS2 0 1 1 0 0 0 0 0 2
SMARCB1 0 0 2 0 0 0 0 0 2
ACRBP 0 0 0 0 0 1 0 0 1
AP1B1, ASCC2, CABP7, CASTOR1, CCDC157, DUSP18, EWSR1, GAL3ST1, GAS2L1, HORMAD2, INPP5J, LIF, LIMK2, MORC2, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PLA2G3, RASL10A, RFPL1, RFPL1S, RNF185, RNF215, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SF3A1, SLC35E4, SMTN, TBC1D10A, TCN2, THOC5, TUG1, UQCR10, ZMAT5 0 1 0 0 0 0 0 0 1
ATM 0 0 1 0 0 0 0 0 1
BCOR 0 0 0 0 0 0 1 0 1
BRD7, LOC126862343 0 1 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 0 0 1
CHD6 0 0 1 0 0 0 0 0 1
CNTNAP3, NTRK2 0 0 1 0 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 0 1
FGFR2, ZNF135 0 0 1 0 0 0 0 0 1
FGFR3 0 0 1 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 1 0 1
KDM5B 0 0 1 0 0 0 0 0 1
KIF5C, NTRK3 0 0 1 0 0 0 0 0 1
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 1
LOC129929542, LOC129929543, PADI2, SDHB 1 0 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 1 0 1
MGMT 0 0 0 0 0 0 0 1 1
MSH2 1 0 0 0 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 1 0 1
NSD1 0 0 0 0 0 0 1 0 1
PALB2 0 0 1 0 0 0 0 0 1
POLE 0 1 0 0 0 0 0 0 1
POT1 0 1 0 0 0 0 0 0 1
RAD51B 0 0 1 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 0 1
RNF213 0 0 0 0 0 0 1 0 1
RUNX1 0 0 1 0 0 0 0 0 1
SDHD 1 0 0 0 0 0 0 0 1
SLX4 0 1 0 0 0 0 0 0 1
STK11 0 0 0 1 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 1 1
ZMYND11 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 419 140 3757 3389 181 0 0 0 7886
Database of Curated Mutations (DoCM) 0 324 0 0 0 0 0 3 326
Myriad Genetics, Inc. 89 40 35 9 3 0 0 0 176
Baylor Genetics 3 12 155 0 0 0 0 0 170
Fulgent Genetics, Fulgent Genetics 22 11 96 33 2 0 0 0 164
Counsyl 2 7 50 13 2 0 0 0 74
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 2 0 13 33 0 0 0 49
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 8 4 29 2 0 0 0 0 43
Color Diagnostics, LLC DBA Color Health 10 4 1 4 11 0 0 0 30
OMIM 29 0 0 0 0 0 0 0 29
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 3 13 0 0 0 0 0 16
Center for Human Genetics, Inc, Center for Human Genetics, Inc 8 1 1 0 0 0 0 0 10
Mendelics 2 1 2 4 1 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 6 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 9 9
MGZ Medical Genetics Center 7 1 0 0 0 0 0 0 8
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 7 0 8
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 6 2 0 0 0 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 0 0 6
Genome Sciences Centre, British Columbia Cancer Agency 0 3 2 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 0 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 0 0 4
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science 0 0 4 0 0 0 0 0 4
Illumina Laboratory Services, Illumina 1 2 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 0 0 2 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Tampere Brain Tumor Research Consortium, University of Tampere 2 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 0 0 2
3billion 1 0 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 0 0 0 1
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Center for Personalized Medicine, Roswell Park Cancer Institute 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 0 1
Murat Gunel Laboratory, Yale University 0 1 0 0 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 0 0 1
Michigan Center for Translational Pathology, University of Michigan 1 0 0 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
Department of Neurosurgery, Guangxi Colleges and Universities Key Laboratory of Preclinical Medicine Research 0 0 0 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1

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