ClinVar Miner

Variants studied for urinary bladder disorder

Included ClinVar conditions (30):
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 other not provided total
196 298 298 79 102 23 35 1004

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
ROBO2 2 0 73 34 77 0 0 175
TP53 11 119 0 0 0 0 0 126
RB1 11 4 102 1 0 0 0 118
TNXB 4 6 69 13 15 0 2 108
TSC1 7 0 2 0 0 0 33 42
FGFR3 15 7 12 5 1 0 0 37
PIK3CA 1 32 0 0 0 0 0 33
HRAS, LRRC56 7 13 7 4 0 0 0 26
MRE11 0 0 0 0 0 23 0 23
CTNNB1, LOC126806658 2 21 0 0 0 0 0 22
ARID1A 20 0 1 0 0 0 0 21
BRCA2 20 0 0 0 0 0 0 20
ABCG8 1 0 12 2 1 0 0 16
KRAS 5 1 4 6 0 0 0 16
LOC106780803, TNXB 0 0 5 7 4 0 0 16
ERBB2 5 10 0 0 0 0 0 15
ATM 12 0 0 0 0 0 0 12
BRAF 0 11 0 0 0 0 0 11
NF1 11 0 0 0 0 0 0 11
SOX17 2 1 2 6 1 0 0 11
ATM, C11orf65 10 0 0 0 0 0 0 10
FBXW7 0 10 0 0 0 0 0 10
KDM6A 9 0 0 0 0 0 0 9
BRCA1 8 0 0 0 0 0 0 8
ERBB3 4 5 0 0 0 0 0 8
LOC126806727, ROBO2 0 0 5 1 2 0 0 8
NFE2L2 0 8 0 0 0 0 0 8
NRAS 0 8 0 0 0 0 0 8
CDKN2A 2 5 0 0 0 0 0 7
EGFR 6 0 0 0 0 0 0 6
IDH1 0 5 0 0 0 0 0 5
PTEN 3 1 1 0 0 0 0 5
CREBBP 0 4 0 0 0 0 0 4
ERCC2 4 0 0 0 0 0 0 4
MAP2K1 0 3 0 0 0 0 0 3
SF3B1 0 3 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 2
BRCA1, LOC126862571 2 0 0 0 0 0 0 2
CDKN1A 1 0 1 0 0 0 0 2
CNOT9 0 2 0 0 0 0 0 2
CYP21A2, TNXB 0 0 1 0 1 0 0 2
EFEMP1 2 0 0 0 0 0 0 2
EP300 0 2 0 0 0 0 0 2
FGFR1 0 2 0 0 0 0 0 2
HARS1 2 0 0 0 0 0 0 2
LOC110806263, TERT 2 0 0 0 0 0 0 2
MTOR 0 2 0 0 0 0 0 2
RHEB 0 2 0 0 0 0 0 2
RXRA 0 2 0 0 0 0 0 2
U2AF1 0 2 0 0 0 0 0 2
ABCG5, ABCG8 1 0 0 0 0 0 0 1
AFAP1L2, VWA2 0 1 0 0 0 0 0 1
AKT1 0 1 0 0 0 0 0 1
C12orf57 1 0 0 0 0 0 0 1
CTNNA3 0 1 0 0 0 0 0 1
EBF3 1 0 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 0 1
LOC126859654, TNXB 0 1 0 0 0 0 0 1
MAPK1 0 1 0 0 0 0 0 1
MED13L 1 0 0 0 0 0 0 1
NIPBL 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Database of Curated Mutations (DoCM) 0 280 0 0 0 0 0 280
Illumina Laboratory Services, Illumina 0 0 64 21 76 0 0 161
Laboratory of Urology, Hospital Clinic de Barcelona 150 0 6 0 0 0 0 156
Fulgent Genetics, Fulgent Genetics 19 0 63 56 15 0 0 153
Baylor Genetics 1 2 99 0 0 0 0 102
Revvity Omics, Revvity 2 7 30 0 0 0 0 39
Tuberous sclerosis database (TSC1) 0 0 0 0 0 0 33 33
Gray Institute for Radiation Oncology & Biology, University of Oxford 0 0 0 0 0 23 0 23
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 19 1 0 0 0 22
OMIM 12 0 1 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 2 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 5 0 0 0 0 6
Mendelics 1 2 0 1 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 4 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Women's and Children's Health, University of Otago 2 0 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 1
Human Genetic Laboratory, University of Liege 0 0 1 0 0 0 0 1
Genomic Center, National Cancer Institute 0 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 0 1

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