ClinVar Miner

Variants studied for brain neoplasm

Included ClinVar conditions (50):
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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 affects association risk factor other not provided total
257 481 1007 608 84 1 9 1 15 62 2470

Gene and significance breakdown #

Total genes and gene combinations: 87
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other not provided total
SUFU 48 17 521 439 22 0 0 0 0 0 1034
CDH23 42 114 103 12 11 0 0 0 0 0 279
TP53 17 173 6 5 2 0 0 0 0 0 196
BRCA2 66 4 69 26 17 0 0 0 0 1 183
ELP1 6 13 113 35 1 0 0 0 0 0 167
AIP 9 9 47 11 15 0 0 0 0 49 123
LOC130004614, SUFU 12 0 71 34 3 0 0 0 0 0 117
GNAS 12 0 11 33 2 0 0 0 0 0 57
PIK3CA 0 35 0 0 0 0 0 0 0 0 35
C10orf105, CDH23 5 13 9 0 2 0 0 0 0 0 29
AIP, LOC130006206 0 0 13 1 4 0 0 0 0 9 24
CTNNB1, LOC126806658 2 22 0 1 0 0 0 0 3 0 24
ALK 0 3 11 1 0 0 0 0 0 0 15
PTCH2 1 0 6 4 1 0 0 0 0 0 12
EGFR 0 10 0 0 0 0 0 0 0 0 10
GPR161 1 0 8 0 1 0 0 0 0 0 10
DICER1 6 1 1 0 0 0 0 0 0 0 8
NRAS 0 8 0 0 0 0 0 0 0 0 8
MEN1 1 2 0 1 3 0 0 0 0 0 7
NF1 5 0 1 0 0 0 0 0 0 0 6
USP8 5 0 1 0 0 0 0 0 0 0 6
CDH23, LOC111982869 2 2 1 0 0 0 0 0 0 0 5
FBXW7 0 5 0 0 0 0 0 0 0 0 5
FGFR1 0 5 0 0 0 0 0 0 0 0 5
IDH1 0 5 0 0 0 0 0 0 0 0 5
PTEN 1 4 0 0 0 0 0 0 0 0 5
ACVR1 0 4 0 0 0 0 0 0 0 0 4
BRAF 0 4 0 0 0 0 0 0 0 0 4
CLDN14 0 0 2 0 0 0 2 0 0 0 4
CREBBP 0 4 0 0 0 0 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 0 0 4
IDH2 0 4 0 0 0 0 0 0 0 0 4
DDX3X 0 0 0 0 0 0 0 0 3 0 3
PTPN11 0 3 0 0 0 0 0 0 0 0 3
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L 1 0 1 0 0 0 0 0 0 0 2
CTNNB1 0 0 0 2 0 0 0 0 0 0 2
EP300 0 2 0 0 0 0 0 0 0 0 2
EPHB4 0 0 0 0 0 0 2 0 0 0 2
FOXO3 0 0 0 0 0 0 0 0 2 0 2
GNAI2 1 0 1 0 0 0 0 0 0 0 2
GPR101 2 0 1 0 0 0 0 0 0 2 2
H3-3A 0 2 0 0 0 0 0 0 0 0 2
H3C11 0 2 0 0 0 0 0 0 0 0 2
KEL 0 0 0 0 0 0 2 0 0 0 2
PCSK7 0 0 2 0 0 0 0 0 0 0 2
PIK3R1 0 2 0 0 0 0 0 0 0 0 2
ACRBP 0 0 0 0 0 0 0 1 0 0 1
ACTR1A, ARL3, AS3MT, ATP5MK, BORCS7, BORCS7-ASMT, C10orf95, CALHM1, CALHM2, CALHM3, CFAP43, CFAP58, CFAP58-DT, CNNM2, COL17A1, CYP17A1, GSTO1, GSTO2, INA, ITPRIP, LINC02620, LOC107984265, LOC110408762, LOC111501773, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC116216120, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121815965, LOC121815966, LOC121815967, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC128772341, LOC129390226, LOC130004609, LOC130004610, LOC130004611, LOC130004612, LOC130004613, LOC130004614, LOC130004615, LOC130004616, LOC130004617, LOC130004618, LOC130004619, LOC130004620, LOC130004621, LOC130004622, LOC130004623, LOC130004624, LOC130004625, LOC130004626, LOC130004627, LOC130004628, LOC130004629, LOC130004630, LOC130004631, LOC130004632, LOC130004633, LOC130004634, LOC130004635, LOC130004636, LOC130004637, LOC130004638, LOC130004639, LOC130004640, LOC130004641, LOC130004642, LOC130004643, LOC130004644, LOC130004645, LOC130004646, LOC130004647, LOC130004648, LOC130004649, LOC130004650, LOC130004651, LOC130004652, LOC130004653, LOC130004654, LOC130004655, LOC130004656, LOC130004657, LOC130004658, LOC130004659, LOC130004660, LOC130004661, LOC130004662, LOC130004663, LOC130004664, LOC130004665, LOC130004666, LOC130004667, LOC130004668, LOC130004669, LOC130004670, MFSD13A, MIR1307, MIR4482, MIR609, MIR936, NEURL1, NT5C2, PCGF6, PDCD11, RPEL1, SFR1, SFXN2, SH3PXD2A, SLK, SORCS3, STN1, SUFU, TAF5, TRIM8, TRIM8-DT, WBP1L 1 0 0 0 0 0 0 0 0 0 1
AIP, LOC130006204 0 1 0 0 0 0 0 0 0 0 1
AIP, LOC130006204, LOC130006205, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 0 1
AIP, LOC130006206, LOC130006207 0 1 0 0 0 0 0 0 0 0 1
ALX4 0 0 1 0 0 0 0 0 0 0 1
ANK3 1 0 0 0 0 0 0 0 0 0 1
ARID1A 0 0 0 0 0 0 0 0 1 0 1
ARID1B 0 0 0 0 0 0 0 0 1 0 1
ARID2 1 0 0 0 0 0 0 0 0 0 1
ATM 0 0 1 0 0 0 0 0 0 0 1
BAP1 0 0 1 0 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 0 0 1
CTCF 1 0 0 0 0 0 0 0 0 0 1
GLI2 0 0 1 0 0 0 0 0 0 0 1
KAT6A 0 0 0 0 0 0 1 0 0 0 1
KMT2D 0 0 0 0 0 0 1 0 0 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 0 0 1
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU 1 0 0 0 0 0 0 0 0 0 1
LRP2 0 1 0 0 0 0 0 0 0 0 1
MSH6 0 0 0 0 0 1 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 0 0 1 0 1
NONO 0 0 0 0 0 0 0 0 1 0 1
NSD1 0 0 0 0 0 0 0 0 1 0 1
PMS2 0 1 0 0 0 0 0 0 0 0 1
PRKAR1A 0 0 0 0 0 0 0 0 1 0 1
PTCH1 1 0 0 0 0 0 0 0 0 0 1
RB1 0 0 1 0 0 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 0 0 0 1
SF3B2 0 1 0 0 0 0 0 0 0 0 1
SMARCA2 0 0 0 0 0 0 1 0 0 0 1
SMARCA4 0 0 0 0 0 0 0 0 1 0 1
SMO 1 0 0 0 0 0 0 0 0 0 1
STK11 0 0 0 1 0 0 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 0 0 1 1
TUBB4A 0 0 1 0 0 0 0 0 0 0 1
VHL 1 0 0 0 0 0 0 0 0 0 1
WRN 0 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor other not provided total
Invitae 59 17 534 451 16 0 0 0 0 0 1077
Fulgent Genetics, Fulgent Genetics 93 21 297 121 30 0 0 0 0 0 562
Database of Curated Mutations (DoCM) 1 297 0 0 0 0 0 0 0 0 298
Baylor Genetics 46 128 54 0 0 0 0 0 0 0 228
Illumina Laboratory Services, Illumina 1 0 73 31 27 0 0 0 0 0 132
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 5 58 2 0 0 0 0 0 0 71
GeneReviews 0 8 0 1 0 0 0 0 0 60 69
OMIM 38 0 0 0 0 0 0 0 0 0 38
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 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 0 0 9
Yale Center for Mendelian Genomics, Yale University 0 0 0 0 0 0 9 0 0 0 9
Genome-Nilou Lab 0 0 0 0 7 0 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 0 0 0 0 0 0 0 0 0 6
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 1 5 0 0 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 0 0 0 0 0 0 0 0 0 5
Mendelics 0 0 3 0 1 0 0 0 0 0 4
Aziz Sancar Institute of Experimental Medicine, Istanbul University 2 2 0 0 0 0 0 0 0 0 4
Laboratory of Neurooncology, Almazov National Medical Research Centre 3 0 1 0 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 3 0 0 0 0 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 0 0 2
Korbonits Lab, Queen Mary University of London 0 1 1 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 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 0 0 0 1
Tuberous sclerosis database (TSC2) 0 0 0 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 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 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 0 0 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 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 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 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 1 0 0 0 0 0 0 0 1
Pediatric Oncology, Johns Hopkins University 0 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 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 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 0 1 0 0 0 0 0 0 0 1

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