ClinVar Miner

Variants in gene KIF5A

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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 risk factor total
31 16 143 84 45 4 283

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Spastic paraplegia 7 2 61 31 16 0 117
Hereditary spastic paraplegia 10 24 3 36 20 18 0 98
not provided 7 6 39 25 18 0 94
not specified 0 1 3 31 13 0 45
Myoclonus, intractable, neonatal 3 1 5 1 0 0 10
none provided 0 0 1 2 6 0 9
Hereditary spastic paraplegia 2 2 1 0 0 0 5
Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 0 0 0 4 4
Spastic paraplegia, autosomal dominant 0 0 2 1 0 0 3
Amyotrophic lateral sclerosis 0 0 2 0 0 0 2
Demyelinating peripheral neuropathy 0 0 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 7 2 58 42 16 0 125
Illumina Clinical Services Laboratory,Illumina 0 0 35 18 18 0 71
GeneDx 0 2 12 28 23 0 65
Paris Brain Institute,Inserm - ICM 19 0 3 0 0 0 22
Athena Diagnostics Inc 0 2 7 5 7 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 15 3 0 0 20
OMIM 13 0 0 0 0 4 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 1 3 4 7 0 16
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 3 2 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 2 0 0 0 0 7
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 2 2 1 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 1 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
ALS/MND Lab,University of Malta 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 1

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