ClinVar Miner

Variants studied for brain neoplasm

Included ClinVar conditions (42):
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
121 361 449 155 39 1 16 1 1105

Gene and significance breakdown #

Total genes and gene combinations: 62
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
SUFU 34 6 350 135 21 0 0 0 533
TP53 8 172 4 0 0 0 0 0 181
AIP 14 49 20 19 17 0 0 0 104
BRCA2 23 0 36 0 1 0 0 0 60
PIK3CA 0 35 0 0 0 0 0 0 35
CTNNB1 2 22 0 0 0 0 3 0 23
CDH23 6 1 15 0 0 0 0 0 22
EGFR 0 10 0 0 0 0 0 0 10
GNAS 7 0 2 0 0 0 0 0 9
DICER1 6 1 1 0 0 0 0 0 8
NRAS 0 8 0 0 0 0 0 0 8
NF1 5 0 1 0 0 0 0 0 6
C10orf105, CDH23 1 0 4 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
IDH1 0 5 0 0 0 0 0 0 5
PTCH2 1 0 4 0 0 0 0 0 5
USP8 5 0 0 0 0 0 0 0 5
ACVR1 0 4 0 0 0 0 1 0 4
ALK 0 3 1 0 0 0 0 0 4
BRAF 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
PTEN 0 4 0 0 0 0 0 0 4
DDX3X 0 0 0 0 0 0 3 0 3
MEN1 1 2 0 0 0 0 0 0 3
PTPN11 0 3 0 0 0 0 0 0 3
EP300 0 2 0 0 0 0 0 0 2
FOXO3 0 0 0 0 0 0 2 0 2
GNAI2 1 0 1 0 0 0 0 0 2
GPR101 2 0 2 0 0 0 0 0 2
H3-3A 0 2 0 0 0 0 0 0 2
H3C11 0 2 0 0 0 0 0 0 2
PCSK7 0 0 2 0 0 0 0 0 2
PIK3R1 0 2 0 0 0 0 0 0 2
ACRBP 0 0 0 0 0 1 0 0 1
ALX4 0 0 1 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 1 0 1
ARID1B 0 0 0 0 0 0 1 0 1
ATM 0 0 1 0 0 0 0 0 1
BAP1 0 0 1 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 1
CHEK2 1 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
LRP2 0 1 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
NONO 0 0 0 0 0 0 1 0 1
NSD1 0 0 0 0 0 0 1 0 1
PMS2 0 1 0 0 0 0 0 0 1
PRKAR1A 0 0 0 0 0 0 1 0 1
RB1 0 0 1 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 1
SMARCA4 0 0 0 0 0 0 1 0 1
SMO 1 0 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
VHL 1 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 30 6 292 113 11 0 0 0 452
Database of Curated Mutations (DoCM) 1 297 0 0 0 0 0 0 298
Illumina Clinical Services Laboratory,Illumina 0 0 73 31 27 0 0 0 131
Fulgent Genetics,Fulgent Genetics 31 2 61 0 1 0 0 0 95
GeneReviews 7 48 5 9 0 0 0 0 69
OMIM 35 0 0 0 0 0 0 0 35
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 5 3 8 0 0 0 0 0 16
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 15 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 4 0 0 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 5 0 0 0 0 0 0 0 5
Aziz Sancar Institute of Experimental Medicine,Istanbul University 2 2 0 0 0 0 0 0 4
Mendelics 0 0 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 2
Korbonits Lab,Queen Mary University of London 0 1 1 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 0 0 0 0 2
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
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 0 1 0 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 0 0 1
Cancer medicine,Gaomi People's Hospital 1 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 1 0 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 1 0 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

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