ClinVar Miner

Variants in gene PEX6

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
187 222 746 955 59 23 1978

Condition and significance breakdown #

Total conditions: 32
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Peroxisome biogenesis disorder 152 47 493 890 32 2 1602
not provided 25 23 151 52 42 1 273
Zellweger spectrum disorders 15 62 149 15 19 0 260
Inborn genetic diseases 5 0 129 11 0 0 145
Heimler syndrome 2 31 90 9 0 10 0 138
Peroxisome biogenesis disorder 4A (Zellweger) 18 41 47 4 21 0 128
PEX6-related disorder 7 5 53 53 3 0 120
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 14 42 19 3 1 1 77
not specified 0 0 22 19 22 0 60
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 4 24 19 2 0 0 49
Peroxisome biogenesis disorder 4B 10 7 9 0 10 0 34
Ovarian serous cystadenocarcinoma 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 2 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 1 0 0 0 0 2
Retinal dystrophy 0 0 2 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
See cases 0 1 1 0 0 0 2
Sensorineural hearing loss disorder; Cerebellar ataxia; Cognitive impairment; Paroxysmal dystonia; Premature ovarian insufficiency; Peripheral neuropathy 2 0 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Autosomal recessive PEX6-related disorders 0 1 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Leukodystrophy; Global developmental delay; CNS demyelination; Hypotonia; Megalencephaly 0 0 1 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Peroxisome biogenesis disorder 2B 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 81
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 147 36 493 890 32 0 1598
Natera, Inc. 15 62 149 15 19 0 260
Ambry Genetics 5 0 129 11 0 0 145
PreventionGenetics, part of Exact Sciences 7 3 53 58 12 0 133
Eurofins Ntd Llc (ga) 9 1 96 8 17 0 131
Baylor Genetics 24 87 6 0 0 0 117
GeneDx 7 10 21 32 32 0 102
Fulgent Genetics, Fulgent Genetics 11 39 17 3 1 0 71
Illumina Laboratory Services, Illumina 1 3 41 4 17 0 66
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 14 22 6 9 0 62
Counsyl 6 25 18 2 0 0 51
Mayo Clinic Laboratories, Mayo Clinic 0 2 15 10 19 0 46
Breakthrough Genomics, Breakthrough Genomics 0 0 7 27 0 0 34
CeGaT Center for Human Genetics Tuebingen 8 3 7 10 4 0 32
Myriad Genetics, Inc. 2 20 0 0 0 0 22
Revvity Omics, Revvity 1 5 16 0 0 0 22
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 20 20
OMIM 15 0 0 0 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 1 6 0 12
Athena Diagnostics 0 1 2 0 8 0 11
Genome-Nilou Lab 0 0 1 0 10 0 11
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 7 1 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 3 5 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 1 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 1 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 3 1 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 3 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 2 3 1 0 0 0 6
Mendelics 2 1 0 0 2 0 5
3billion 1 2 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 1 1 1 1 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Centre de Génétique Humaine, Institut de Pathologie Et de Génétique 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 1 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 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
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 0 2 0 0 0 0 2
Dasa 0 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 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
Next Generation Genetic Polyclinic 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 0 1 0 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.