ClinVar Miner

Variants in gene PLA2G6

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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 total
71 55 142 46 18 286

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Infantile neuroaxonal dystrophy 36 14 52 21 10 130
not provided 20 16 36 22 3 93
PLA2G6-associated neurodegeneration 2 1 62 5 9 79
Iron accumulation in brain 21 16 18 0 0 55
Neurodegeneration with brain iron accumulation 2b 12 6 1 0 0 18
not specified 0 0 5 2 8 15
Inborn genetic diseases 5 3 2 0 0 10
Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2b; Parkinson disease 14 1 2 7 0 0 10
Parkinson disease 14 6 1 0 0 0 6
Abnormality of brain morphology 0 2 0 0 0 2
Autistic disorder of childhood onset; Seizures 0 0 1 0 0 1
Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression 1 0 0 0 0 1
Karak syndrome 1 0 0 0 0 1
Neurodegeneration with brain iron accumulation 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 1 45 36 11 109
Illumina Clinical Services Laboratory,Illumina 2 1 63 6 9 81
Genetic Services Laboratory, University of Chicago 22 19 19 2 8 70
CeGaT Praxis fuer Humangenetik Tuebingen 6 4 29 6 0 45
GeneDx 13 11 1 0 0 25
Baylor Genetics 11 0 5 0 0 16
OMIM 15 0 0 0 0 15
Ambry Genetics 5 3 2 0 0 10
Mendelics 3 6 0 0 0 9
Fulgent Genetics,Fulgent Genetics 1 2 6 0 0 9
Athena Diagnostics Inc 0 0 5 1 2 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 4 1 0 0 8
Institute of Human Genetics, Klinikum rechts der Isar 4 1 0 0 0 5
Centogene AG - the Rare Disease Company 2 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 1

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