ClinVar Miner

Variants studied for urinary tract obstruction

Included ClinVar conditions (10):
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 total
9 3 10 1 2 25

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TBX18 5 0 4 1 2 12
XDH 0 0 2 0 0 2
​intergenic 1 0 0 0 0 1
AIFM3, CRKL, LZTR1, P2RX6, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7 0 1 0 0 0 1
C12orf57 1 0 0 0 0 1
CHN1 0 1 0 0 0 1
ERF 0 0 1 0 0 1
FLNA 0 0 1 0 0 1
GATA4 0 0 1 0 0 1
KIF1A 0 0 1 0 0 1
SETBP1 0 1 0 0 0 1
TBX4 1 0 0 0 0 1
WFS1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 5 0 0 7
OMIM 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 2
Baylor Genetics 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 1 0 0 1
Department of Medical Genetics, Nizam's Institute of Medical Sciences 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 1

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