ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 1A (Zellweger)

Coded as:
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
16 89 481 86 47 713

Gene and significance breakdown #

Total genes and gene combinations: 17
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX1 9 67 40 4 7 122
PEX26 0 0 50 22 9 81
PEX5 0 0 60 7 3 70
GATAD1, PEX1 6 21 32 1 0 59
PEX2 0 0 45 8 5 58
PEX19 0 0 40 10 1 51
PEX13 0 0 40 4 3 47
PEX6 0 0 27 6 6 39
PEX16 0 0 27 7 3 37
PEX12 0 0 25 6 4 35
PEX3 1 1 27 3 2 34
PEX14 0 0 22 5 2 29
PEX10 0 0 21 3 2 26
PEX10, RER1 0 0 14 0 0 14
LOC113788293, PEX2 0 0 5 0 0 5
PEX13, PUS10 0 0 4 0 0 4
PEX10, PLCH2 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 448 85 42 576
Counsyl 4 87 31 1 0 123
Invitae 5 0 5 0 4 14
OMIM 5 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 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.