ClinVar Miner

Variants in gene combination BSCL2, HNRNPUL2-BSCL2

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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 total
40 12 151 86 18 276

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 2 11 4 97 50 6 168
not provided 4 2 41 26 7 76
Congenital generalized lipodystrophy type 2 28 2 24 7 6 67
Distal hereditary motor neuronopathy type 5 1 0 22 7 8 38
not specified 1 0 5 24 7 35
Monogenic diabetes 1 0 6 1 2 10
Encephalopathy, progressive, with or without lipodystrophy 3 1 4 0 0 8
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC 3 0 0 0 0 3
Spastic paraplegia 17 2 1 1 0 0 3
Charcot-Marie-Tooth disease 0 1 1 0 0 2
Hereditary spastic paraplegia 0 0 2 0 0 2
Congenital generalized lipodystrophy (disease) 0 0 0 1 0 1
Congenital generalized lipodystrophy type 2; Distal hereditary motor neuronopathy type 5; Spastic paraplegia 17; Encephalopathy, progressive, with or without lipodystrophy 0 0 1 0 0 1
Distal hereditary motor neuronopathy type 5; Spastic paraplegia 17 1 0 0 0 0 1
Familial partial lipodystrophy 3 0 1 0 0 0 1
Focal seizures with impairment of consciousness or awareness 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Neurologic Disorders/Seipinopathy 0 0 0 1 0 1
none provided 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 4 97 57 6 175
GeneDx 2 2 22 27 3 56
Illumina Clinical Services Laboratory,Illumina 0 0 24 10 8 38
OMIM 18 0 0 0 0 18
Athena Diagnostics Inc 2 0 7 4 5 18
GeneReviews 15 0 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 9 1 0 13
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 1 0 6 1 2 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 8 1 0 9
Genetic Services Laboratory, University of Chicago 3 0 2 2 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 2 1 6
PreventionGenetics, PreventionGenetics 0 0 0 0 6 6
Baylor Genetics 0 0 5 0 0 5
Laboratory of Metabolic Disorders,Peking University First Hospital 3 1 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 1 0 0 0 3
Mendelics 2 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 1 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 2 0 0 2
Inherited Neuropathy Consortium 0 1 1 0 0 2
Ambry Genetics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 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 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Paris Brain Institute,Inserm - ICM 1 0 0 0 0 1

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