ClinVar Miner

Variants studied for Peroxisome biogenesis disorder

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 not provided total
216 84 654 1127 47 5 2116

Gene and significance breakdown #

Total genes and gene combinations: 19
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX6 137 43 485 825 31 2 1510
PEX16 19 10 162 302 15 0 507
PEX1 21 8 3 0 0 2 32
PEX10 6 7 0 0 0 1 13
PEX12 9 3 1 0 0 0 13
GATAD1, PEX1 6 3 0 0 0 0 9
PEX2 7 2 0 0 0 0 9
PEX26 4 2 0 0 0 0 6
PEX13 3 0 0 0 0 0 3
PEX3 1 2 0 0 0 0 3
GNMT, PEX6 0 1 0 0 1 0 2
LOC129998796, PEX1 1 1 0 0 0 0 2
ABCC10, BICRAL, BYSL, C6orf132, C6orf226, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, PEX6, PGC, POLH, POLR1C, PPP2R5D, PRICKLE4, PRPH2, PTCRA, PTK7, RPL7L1, RRP36, RSPH9, SLC22A7, SRF, TAF8, TBCC, TFEB, TJAP1, TOMM6, TREM1, TREM2, TREML2, TREML4, TRERF1, TTBK1, UBR2, USP49, VEGFA, XPO5, YIPF3, ZNF318 1 0 0 0 0 0 1
CNPY3, GNMT, PEX6, PPP2R5D, PTCRA 0 0 1 0 0 0 1
CREB3L1, CRY2, DGKZ, FREY1, LARGE2, MAPK8IP1, PEX16, PHF21A, SLC35C1 1 0 0 0 0 0 1
CRY2, FREY1, MAPK8IP1, PEX16, SLC35C1 0 0 1 0 0 0 1
GNMT, PEX6, PPP2R5D 0 0 1 0 0 0 1
PEX11B 0 1 0 0 0 0 1
PEX5 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 156 43 650 1126 47 0 2022
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 65 42 0 0 0 0 107
GeneReviews 0 0 0 0 0 4 4
OMIM 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 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.