ClinVar Miner

Variants in gene PEX6

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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
74 53 251 162 37 1 503

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 42 16 102 128 21 1 306
not provided 15 6 105 26 20 0 169
Peroxisome biogenesis disorder 4a (zellweger) 9 6 45 4 17 0 81
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 4 24 19 2 0 0 49
Zellweger syndrome 2 3 16 4 16 0 41
not specified 0 0 4 13 21 0 35
Heimler syndrome 2 11 2 5 0 0 0 18
Peroxisome biogenesis disorder 1A (Zellweger) 1 1 6 1 2 0 11
Peroxisome biogenesis disorder 4B 7 2 1 0 0 0 10
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
PEX6-Related Disorders 0 2 0 0 0 0 2
Peroxisome biogenesis disorders 2 0 0 0 0 0 2
Retinal dystrophy 0 0 2 0 0 0 2
Sensorineural hearing loss; Cerebellar ataxia; Cognitive impairment; Paroxysmal dystonia; Premature ovarian insufficiency; Peripheral neuropathy 2 0 0 0 0 0 2
none provided 0 0 2 0 0 0 2
PEX6 POLYMORPHISM 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 10 102 141 22 0 315
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 9 1 96 8 18 0 132
Illumina Clinical Services Laboratory,Illumina 1 3 48 5 19 0 76
Counsyl 6 25 18 2 0 0 51
Natera, Inc. 2 3 16 4 16 0 41
Integrated Genetics/Laboratory Corporation of America 6 5 3 2 9 0 25
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 2 13 0 17
OMIM 15 0 0 0 1 0 16
PreventionGenetics, PreventionGenetics 0 0 0 5 9 0 14
Athena Diagnostics Inc 0 0 1 0 8 0 9
GeneDx 1 1 2 0 4 0 8
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 7 0 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 3 2 2 0 0 0 7
Baylor Genetics 1 0 5 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 3 1 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 1 1 0 0 0 4
Mendelics 1 0 0 0 2 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 2
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Clinical Genetics laboratory, 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
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
GeneReviews 1 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1

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