ClinVar Miner

Variants in gene GNE

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 affects total
44 54 190 41 15 1 311

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects total
not provided 25 6 113 1 0 0 143
Inclusion body myopathy 2 18 45 36 0 0 0 93
Nonaka myopathy 27 3 34 21 9 1 93
Sialuria 17 1 33 21 9 0 81
Inclusion Body Myopathy, Recessive 0 0 31 21 9 0 61
Inclusion body myopathy 2; Sialuria 7 2 32 6 4 0 51
not specified 0 0 3 16 7 0 24
Inclusion body myopathy 2; Nonaka myopathy; Sialuria 2 4 1 0 0 0 7
GNE myopathy 1 0 0 0 0 0 1
Inclusion body myositis; Nonaka myopathy 1 0 0 0 0 0 1
Nonaka myopathy; Sialuria 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 25 2 112 1 5 0 144
Counsyl 7 44 34 0 0 0 85
Illumina Clinical Services Laboratory,Illumina 2 0 34 21 9 0 66
Invitae 9 3 32 6 4 0 54
GeneDx 6 4 6 12 3 0 31
OMIM 16 0 0 0 0 0 16
PreventionGenetics 0 0 0 4 5 0 9
Fulgent Genetics 2 4 1 0 0 0 7
GeneReviews 6 0 0 0 0 0 6
Sema4,Sema4 2 0 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 0 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 3
Athena Diagnostics Inc 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 0 0 0 0 1

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