ClinVar Miner

Variants in gene PLA2G6

See also:
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
132 117 383 486 68 1 1038

Condition and significance breakdown #

Total conditions: 20
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Infantile neuroaxonal dystrophy 104 42 215 437 22 0 806
not provided 35 41 110 74 52 0 293
PLA2G6-associated neurodegeneration 14 23 104 5 8 0 153
Iron accumulation in brain 21 16 18 0 0 0 55
not specified 0 0 29 4 13 0 44
Inborn genetic diseases 6 3 28 2 0 0 39
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 7 5 24 1 0 0 36
Neurodegeneration with brain iron accumulation 2B 16 9 4 0 0 0 27
Neurodegeneration with brain iron accumulation 8 9 0 0 0 1 18
Autosomal recessive Parkinson disease 14 8 3 2 0 0 0 12
Abnormality of the nervous system 2 3 0 0 0 0 5
PLA2G6-related condition 1 0 3 0 0 0 4
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B 1 0 2 0 0 0 3
Abnormal brain morphology 0 2 0 0 0 0 2
See cases 0 1 1 0 0 0 2
Autism; Seizure 0 0 1 0 0 0 1
Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression 1 0 0 0 0 0 1
Infantile osteopetrosis with neuroaxonal dysplasia 0 1 0 0 0 0 1
Karak syndrome 1 0 0 0 0 0 1
Spastic ataxia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 22 196 437 22 0 761
GeneDx 21 27 66 49 49 0 212
CeGaT Center for Human Genetics Tuebingen 10 7 43 29 4 0 93
Broad Institute Rare Disease Group, Broad Institute 14 23 45 0 0 0 81
Illumina Laboratory Services, Illumina 2 1 63 6 8 0 80
Genetic Services Laboratory, University of Chicago 22 20 19 2 9 0 72
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 8 23 1 0 0 40
Ambry Genetics 6 3 28 2 0 0 39
Fulgent Genetics, Fulgent Genetics 6 3 24 1 0 0 34
Mendelics 10 8 1 0 1 0 20
Baylor Genetics 13 1 3 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 1 0 16 0 0 0 17
OMIM 15 0 0 0 0 0 15
Revvity Omics, Revvity Omics 7 4 4 0 0 0 15
Clinical Genetics, Academic Medical Center 0 0 3 2 9 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 5 6 0 14
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 5 7 0 0 0 14
Athena Diagnostics Inc 0 0 7 2 2 0 11
3billion 3 3 4 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 4 2 0 0 0 8
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 1 0 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 5 1 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 4 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 2 3 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 1 1 0 5
AiLife Diagnostics, AiLife Diagnostics 0 2 3 0 0 0 5
Preventiongenetics, part of Exact Sciences 1 0 3 0 0 0 4
Centogene AG - the Rare Disease Company 3 1 0 0 0 0 4
Genomics England Pilot Project, Genomics England 1 3 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Undiagnosed Diseases Network, NIH 0 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 2 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 0 2
Department of Neurology, Xijing Hospital, Fourth Military Medical University 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.