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
64 93 204 128 32 1 436

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Zellweger syndrome 38 11 84 87 5 0 220
Peroxisome biogenesis disorder 1A (Zellweger) 18 71 74 20 26 0 192
not provided 15 6 81 24 9 0 132
Peroxisome biogenesis disorder 1B 4 32 2 0 0 0 38
not specified 0 0 1 17 15 0 29
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 16 7 0 0 0 0 23
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 13 4 0 0 0 0 17
Heimler syndrome 1 6 0 5 0 0 0 11
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2 1 5 0 0 0 8
Peroxisome biogenesis disorders 3 0 1 0 0 0 4
Retinal dystrophy 3 1 0 0 0 0 4
Global developmental delay; Seizures; Polymicrogyria; Hypospadias, penile; Very long chain fatty acid accumulation 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Leber congenital amaurosis 0 0 0 0 0 1 1
Peroxisomal disorder 1 0 0 0 0 0 1
Peroxisome biogenesis disorder type 1A 1 0 0 0 0 0 1
Zellweger Spectrum Disorder 0 0 0 0 1 0 1
none provided 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 12 76 108 22 0 260
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 0 72 10 11 0 102
Counsyl 2 66 19 1 0 0 88
Illumina Clinical Services Laboratory,Illumina 1 0 47 3 8 0 59
Natera, Inc. 1 1 25 5 6 0 38
Integrated Genetics/Laboratory Corporation of America 15 7 1 3 2 0 28
Baylor Genetics 13 4 5 0 0 0 22
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 1 5 0 11
PreventionGenetics, PreventionGenetics 0 0 0 4 6 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 1 2 0 0 10
GeneDx 4 2 1 0 2 0 9
OMIM 8 0 0 0 0 0 8
Athena Diagnostics Inc 0 0 2 1 3 0 6
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 0 6
Blueprint Genetics 3 1 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 0 0 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare 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
GeneReviews 2 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
The Molecular Genetic Diagnosis Center, 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 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
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Lineagen, Inc 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 1

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