ClinVar Miner

Variants in gene PEX5

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
45 23 455 446 71 977

Condition and significance breakdown #

Total conditions: 15
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Peroxisome biogenesis disorder 2B 41 15 335 423 18 830
not provided 5 5 87 18 49 161
Peroxisome biogenesis disorder 2A (Zellweger) 2 2 85 9 13 111
Inborn genetic diseases 0 0 29 0 0 29
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 8 1 3 12
not specified 0 0 5 4 3 12
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 0 1 4 0 1 6
Rhizomelic chondrodysplasia punctata type 5 1 1 2 0 2 6
Microcephaly 0 0 3 0 0 3
PEX5-related condition 0 0 2 0 0 2
Peroxisome biogenesis disorder due to PEX5 defect 0 1 1 0 0 2
Abnormality of metabolism/homeostasis 0 1 0 0 0 1
Peroxisome biogenesis disorder 0 1 0 0 0 1
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger) 0 0 1 0 0 1
Rhizomelic chondrodysplasia punctata 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 14 334 424 16 828
Illumina Laboratory Services, Illumina 0 0 88 10 12 110
GeneDx 4 4 11 9 49 77
Eurofins Ntd Llc (ga) 1 0 69 1 0 71
Ambry Genetics 0 0 29 0 0 29
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 2 5 10
CeGaT Center for Human Genetics Tuebingen 0 0 3 6 0 9
Baylor Genetics 1 1 5 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 5 0 1 7
Revvity Omics, Revvity Omics 0 1 5 0 0 6
Preventiongenetics, part of Exact Sciences 0 0 2 3 1 6
Fulgent Genetics, Fulgent Genetics 0 1 2 0 1 4
OMIM 3 0 0 0 0 3
Elsea Laboratory, Baylor College of Medicine 0 0 3 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 2 0 1 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 3
Mendelics 0 0 0 0 2 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
3billion 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.