ClinVar Miner

Variants studied for Peroxisome biogenesis disorder 1A (Zellweger)

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
24 105 175 16 28 336

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX1 15 75 60 5 13 159
GATAD1, PEX1 6 22 49 3 1 79
LOC129998796, PEX1 1 6 7 0 1 14
PEX16 0 0 8 2 2 12
PEX5 0 0 8 1 3 12
PEX6 1 1 6 1 1 10
PEX26 0 0 6 0 3 9
PEX3 1 1 6 0 0 8
PEX12 0 0 3 2 1 6
PEX2 0 0 4 1 1 6
LOC113788293, PEX2 0 0 5 0 0 5
PEX19 0 0 4 1 0 5
PEX13 0 0 4 0 0 4
PEX14 0 0 2 0 0 2
GNMT, PEX6 0 0 0 0 1 1
LOC129998796, PEX1, RBM48 0 0 0 0 1 1
PEX10 0 0 1 0 0 1
PEX10, RER1 0 0 1 0 0 1
PEX13, PUS10 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 137 12 16 166
Counsyl 2 86 30 1 0 119
Genome-Nilou Lab 0 5 8 1 11 25
Mendelics 0 0 0 1 5 6
OMIM 5 0 0 0 0 5
Baylor Genetics 2 2 0 0 0 4
Invitae 2 1 1 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 3 1 0 0 0 4
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 1 0 0 0 3
Wangler Lab, Baylor College of Medicine 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 2 0 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1

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