ClinVar Miner

Variants in gene PEX1

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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
164 222 466 611 64 2 1347

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Zellweger spectrum disorders 136 36 321 577 39 0 1066
not provided 23 19 107 35 36 0 202
Peroxisome biogenesis disorder 1A (Zellweger) 17 75 60 5 13 0 159
Heimler syndrome 1 45 67 11 1 4 0 125
PEX1-related disorder 9 2 19 39 2 0 71
Inborn genetic diseases 3 0 54 7 0 0 64
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 12 32 14 1 1 1 60
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 13 41 1 0 0 0 55
Peroxisome biogenesis disorder 1B 3 31 7 1 4 0 45
not specified 1 0 14 18 19 0 45
Peroxisome biogenesis disorder 24 8 3 1 1 2 37
Retinal dystrophy 5 1 3 0 0 0 9
Optic atrophy 1 0 2 0 0 0 3
Peroxisome biogenesis disorder due to PEX1 defect 3 0 0 0 0 0 3
Abnormality of metabolism/homeostasis 1 0 0 0 0 0 1
Global developmental delay; Seizure; Polymicrogyria; Penile hypospadias; Very long chain fatty acid accumulation 0 0 1 0 0 0 1
Leber congenital amaurosis 0 0 0 0 0 1 1
Peroxisomal disorder 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 135 35 292 566 39 0 1067
Natera, Inc. 16 6 74 29 15 0 140
Baylor Genetics 43 70 5 0 0 0 115
Eurofins Ntd Llc (ga) 9 0 70 10 10 0 99
Counsyl 1 61 17 1 0 0 80
PreventionGenetics, part of Exact Sciences 8 2 19 41 8 0 78
GeneDx 9 5 21 11 29 0 75
Ambry Genetics 3 0 54 7 0 0 64
Fulgent Genetics, Fulgent Genetics 12 32 11 1 1 0 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 24 8 14 5 3 0 54
Illumina Laboratory Services, Illumina 1 0 40 3 7 0 51
Myriad Genetics, Inc. 2 37 1 0 0 0 40
Breakthrough Genomics, Breakthrough Genomics 0 0 6 9 14 0 29
Mayo Clinic Laboratories, Mayo Clinic 2 3 15 1 4 0 25
CeGaT Center for Human Genetics Tuebingen 7 2 0 12 1 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 8 8 0 20
Genome-Nilou Lab 0 4 5 1 9 0 19
Revvity Omics, Revvity 8 5 3 0 0 0 16
Clinical Genetics, Academic Medical Center 1 0 1 3 11 0 16
Athena Diagnostics 2 0 3 1 3 0 9
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 4 0 5 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 5 1 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 1 4 0 8
OMIM 7 0 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 0 0 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 2 2 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 3 0 0 5
Genetic Services Laboratory, University of Chicago 1 0 0 2 1 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 2 1 0 4
Blueprint Genetics 3 1 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 1 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 2 0 3
Elsea Laboratory, Baylor College of Medicine 2 0 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 0 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 1 0 0 3
Wangler Lab, Baylor College of Medicine 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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