ClinVar Miner

Variants studied for cerebellar neoplasm

Included ClinVar conditions (15):
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 affects other not provided total
147 113 795 542 45 1 12 1 1635

Gene and significance breakdown #

Total genes and gene combinations: 43
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
SUFU 49 17 521 439 22 0 0 0 1035
BRCA2 65 4 69 26 17 0 0 1 182
ELP1 5 13 113 35 1 0 0 0 166
LOC130004614, SUFU 12 0 71 34 3 0 0 0 117
CTNNB1, LOC126806658 2 21 0 1 0 0 3 0 23
TP53 0 20 0 0 0 0 0 0 20
PTCH2 1 0 6 4 1 0 0 0 12
PIK3CA 0 11 0 0 0 0 0 0 11
GPR161 1 0 8 0 1 0 0 0 10
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
CREBBP 0 4 0 0 0 0 0 0 4
CTNNB1, LOC126806659 2 0 1 1 0 0 0 0 4
DDX3X 0 0 0 0 0 0 3 0 3
NRAS 0 3 0 0 0 0 0 0 3
ARL3, CYP17A1, SFXN2, SUFU, TRIM8, WBP1L 1 0 1 0 0 0 0 0 2
CTNNB1 0 0 0 2 0 0 0 0 2
EP300 0 2 0 0 0 0 0 0 2
ANK3 1 0 0 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
ARID2 1 0 0 0 0 0 0 0 1
BAP1 0 0 1 0 0 0 0 0 1
CTCF 1 0 0 0 0 0 0 0 1
DICER1 0 0 1 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 1 0 1
LOC100507346, PTCH1 1 0 0 0 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 0 0 1
LOC124416895, LOC130004614, LOC130004615, LOC130004616, SUFU 1 0 0 0 0 0 0 0 1
MSH6 0 0 0 0 0 1 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 1
NONO 0 0 0 0 0 0 1 0 1
PRKAR1A 0 0 0 0 0 0 1 0 1
PTCH1 1 0 0 0 0 0 0 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
TUBB4A 0 0 1 0 0 0 0 0 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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Invitae 59 17 534 451 16 0 0 0 1077
Fulgent Genetics, Fulgent Genetics 67 15 178 69 20 0 0 0 349
Illumina Laboratory Services, Illumina 0 0 62 21 10 0 0 0 93
Database of Curated Mutations (DoCM) 1 78 0 0 0 0 0 0 79
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 37 0 0 0 0 0 43
OMIM 13 0 0 0 0 0 0 0 13
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 12 0 12
Laboratory of Neurooncology, Almazov National Medical Research Centre 3 0 1 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 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 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 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 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 0 0 0 0 0 1 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 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 1

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