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
30 74 116 19 19 1 228

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Peroxisome biogenesis disorder 1A (Zellweger) 17 69 44 4 7 0 132
not provided 11 4 78 2 6 0 100
Peroxisome biogenesis disorder 1B 3 31 2 0 0 0 36
not specified 0 0 0 15 15 0 27
Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B 2 1 4 0 0 0 7
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 5 2 0 0 0 0 7
Deafness enamel hypoplasia nail defects 6 0 0 0 0 0 6
Peroxisome biogenesis disorder 1 0 1 0 0 0 2
Leber congenital amaurosis 0 0 0 0 0 1 1
Peroxisomal disorder 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 0 72 10 11 0 102
Counsyl 4 66 19 1 0 0 90
Illumina Clinical Services Laboratory,Illumina 1 0 25 3 2 0 31
Invitae 12 1 5 0 4 0 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 3 1 5 0 11
PreventionGenetics 0 0 0 4 6 0 10
OMIM 8 0 0 0 0 0 8
GeneDx 4 1 1 0 2 0 8
Integrated Genetics/Laboratory Corporation of America 4 2 0 0 1 0 7
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 0 6
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 1 0 0 3
Baylor Genetics 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
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
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 1 1 0 0 0 0 2
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
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 0 1

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