ClinVar Miner

Variants in gene PEX6

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 not provided total
49 42 174 74 37 1 326

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 13 5 104 26 20 0 165
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 16 8 24 35 21 1 102
Peroxisome biogenesis disorder 4a (zellweger) 8 3 43 4 17 0 75
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 3 24 18 2 0 0 47
not specified 0 0 3 12 20 0 33
Heimler syndrome 2 10 2 0 0 0 0 12
Peroxisome biogenesis disorder 1A (Zellweger) 1 1 6 1 2 0 11
Peroxisome biogenesis disorder 4B 7 2 0 0 0 0 9
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2 0 1 0 0 0 3
Inborn genetic diseases 2 0 0 0 0 0 2
Retinal dystrophy 0 0 2 0 0 0 2
PEX6 POLYMORPHISM 0 0 0 0 1 0 1
Peroxisome biogenesis disorder 1 0 0 0 0 0 1
Zellweger syndrome spectrum (PEX6-related) 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 96 8 18 0 132
Invitae 15 3 24 56 22 0 120
Illumina Clinical Services Laboratory,Illumina 1 3 48 5 19 0 76
Counsyl 6 25 18 2 0 0 51
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 2 13 0 17
Integrated Genetics/Laboratory Corporation of America 3 4 1 0 8 0 16
OMIM 14 0 0 0 1 0 15
PreventionGenetics,PreventionGenetics 0 0 0 5 9 0 14
Athena Diagnostics Inc 0 0 1 0 7 0 8
GeneDx 1 1 2 0 4 0 8
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 7 0 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 3 1 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 2 0 0 0 5
Mendelics 1 0 0 0 2 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Ambry Genetics 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
Blueprint Genetics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 0 2 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1

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