ClinVar Miner

Variants in gene PEX6

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 not provided total
37 36 142 24 26 1 240

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 4 101 5 15 0 134
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 5 25 18 2 0 0 50
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 27 6 6 0 39
not specified 0 0 3 12 20 0 33
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 4 5 3 1 4 1 18
Heimler syndrome 2 10 1 0 0 0 0 11
Peroxisome biogenesis disorder 4a (zellweger) 7 3 1 0 0 0 11
Peroxisome biogenesis disorder 4B 5 2 0 0 0 0 7
Inborn genetic diseases 2 0 0 0 0 0 2
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 1 0 1 0 0 0 2
PEX6 POLYMORPHISM 0 0 0 0 1 0 1
Zellweger syndrome spectrum (PEX6-related) 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 96 8 18 0 132
Counsyl 6 25 18 2 0 0 51
Illumina Clinical Services Laboratory,Illumina 1 3 28 6 6 0 44
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 2 13 0 17
Integrated Genetics/Laboratory Corporation of America 2 5 1 0 8 0 16
OMIM 14 0 0 0 1 0 15
PreventionGenetics 0 0 0 5 9 0 14
Invitae 2 0 3 1 4 0 10
Leeds Amelogenesis Imperfecta Research Group,Leeds University 7 0 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 3 1 0 6
GeneDx 0 1 2 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
Fulgent Genetics 1 0 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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.