ClinVar Miner

Variants in gene GNE

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 affects not provided total
59 60 248 72 46 1 1 410

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
GNE myopathy 24 48 107 21 10 1 1 202
not provided 30 6 118 19 15 0 0 181
GNE myopathy; Sialuria 30 10 59 28 4 0 0 126
Sialuria 3 0 64 11 28 0 0 106
Inclusion Body Myopathy, Recessive 0 0 31 21 9 0 0 61
not specified 0 0 0 16 7 0 0 21
Thrombocytopenia 0 2 0 0 0 0 0 2
Inclusion body myositis; GNE myopathy 1 0 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 0 1
Stereotypy; Delayed speech and language development; Fragile skin; Neonatal hypotonia; Small for gestational age; Bell-shaped thorax; Calcaneovalgus deformity; Severe muscular hypotonia; Severe global developmental delay; Central hypotonia; Congenital microcephaly 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 24 2 112 1 5 0 0 144
Invitae 30 5 59 35 4 0 0 133
Illumina Clinical Services Laboratory,Illumina 2 0 74 26 28 0 0 105
Counsyl 5 45 35 0 0 0 0 85
GeneDx 6 4 6 20 18 0 0 54
OMIM 16 0 0 0 0 0 0 16
GeneReviews 13 0 0 0 0 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 7 0 4 2 0 0 0 13
PreventionGenetics,PreventionGenetics 0 0 0 4 5 0 0 9
Fulgent Genetics,Fulgent Genetics 2 4 1 0 0 0 0 7
Baylor Genetics 3 2 0 0 0 0 0 5
Athena Diagnostics Inc 2 0 2 1 0 0 0 5
Myriad Women's Health, Inc. 5 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 0 0 0 0 0 0 4
Sema4, Sema4 2 0 1 0 0 0 0 3
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 1 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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