ClinVar Miner

Variants studied for Peroxisome biogenesis disorder

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
255 155 673 1233 49 5 2350

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX6 152 47 493 890 32 2 1602
PEX16 24 11 168 342 15 0 559
PEX1 25 46 4 1 1 2 77
GATAD1, PEX1 9 16 1 0 0 0 24
PEX10 10 14 0 0 0 1 24
PEX12 10 4 1 0 0 0 15
PEX2 9 3 0 0 0 0 12
PEX26 5 4 1 0 0 0 10
PEX13 4 1 0 0 0 0 5
PEX3 1 3 0 0 0 0 4
LOC129998796, PEX1 1 2 0 0 0 0 3
PEX5 1 2 0 0 0 0 3
PEX7 1 0 2 0 0 0 3
GNMT, PEX6 0 1 0 0 1 0 2
ABCC10, BICRAL, BYSL, C6orf132, CCND3, CNPY3, CRIP3, CUL7, CUL9, DLK2, DNPH1, FOXP4, FRS3, GNMT, GTPBP2, GUCA1A, GUCA1B, KLC4, KLHDC3, LRRC73, MAD2L1BP, MDFI, MEA1, MED20, MRPL2, MRPS10, MRPS18A, NCR2, PEX39, 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
PEX19 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 173 47 663 1231 48 0 2162
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 83 53 0 0 0 0 136
Myriad Genetics, Inc. 7 58 1 0 0 0 66
Department of Pathology and Laboratory Medicine, Sinai Health System 4 1 4 1 0 0 10
GeneReviews 0 0 0 0 0 4 4
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
OMIM 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1

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