ClinVar Miner

Variants in gene KIF5A

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Minimum submission review status: Collection method:
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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 risk factor not provided total
51 46 542 607 77 4 1 1218

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Spastic paraplegia 24 10 391 531 43 0 0 999
not provided 12 17 102 89 44 0 0 245
Hereditary spastic paraplegia 10 27 9 50 21 19 0 0 121
not specified 0 1 10 25 13 0 0 47
Hereditary spastic paraplegia 3 4 19 11 6 0 1 42
KIF5A-related condition 1 1 11 25 1 0 0 39
Inborn genetic diseases 0 0 22 0 0 0 0 22
Myoclonus, intractable, neonatal 3 2 6 1 1 0 0 13
Amyotrophic lateral sclerosis, susceptibility to, 25 1 0 1 0 0 4 0 6
Hereditary spastic paraplegia 10; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 2 2 0 0 0 4
Amyotrophic lateral sclerosis 0 0 3 0 0 0 0 3
Demyelinating peripheral neuropathy 1 0 1 0 0 0 0 2
KIF5A-Related Disorders 1 1 0 0 0 0 0 2
Spastic paraplegia, autosomal dominant 0 0 1 1 0 0 0 2
Auditory neuropathy 0 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 2 0 1 0 0 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 0 0 0 0 1
Inherited neurodegenerative disorder 0 0 1 0 0 0 0 1
KIF5A-related amyotrophic lateral sclerosis 0 0 1 0 0 0 0 1
KIF5A-related intractable neonatal myoclonus 0 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
Paroxysmal dyskinesia 0 0 1 0 0 0 0 1
Peripheral neuropathy 0 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 24 10 389 532 43 0 0 998
GeneDx 4 6 42 58 40 0 0 150
CeGaT Center for Human Genetics Tuebingen 4 4 27 35 6 0 0 76
Illumina Laboratory Services, Illumina 0 0 36 18 18 0 0 72
PreventionGenetics, part of Exact Sciences 1 1 11 25 1 0 0 39
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 2 18 11 6 0 0 38
Athena Diagnostics Inc 2 2 10 5 7 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 3 12 8 0 0 26
Ambry Genetics 0 0 22 0 0 0 0 22
Paris Brain Institute, Inserm - ICM 19 0 3 0 0 0 0 22
OMIM 13 0 0 0 0 4 0 17
Revvity Omics, Revvity 0 1 8 1 0 0 0 10
Eurofins Ntd Llc (ga) 0 0 5 3 2 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 3 0 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 6 2 0 0 0 9
Clinical Genetics, Academic Medical Center 1 0 1 4 2 0 0 8
MGZ Medical Genetics Center 0 2 4 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 3 0 2 0 0 6
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 2 2 1 0 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 1 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 1 0 0 0 2
UM ALS/MND Lab, University Of Malta 0 0 2 0 0 0 0 2
3billion 1 0 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 0 1 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 0 0 0 0 0 1
Department of Next Generation Sequencing, Access to Genome 0 0 1 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 0 1
Genetic Medicine Clinic, University Of Washington Medical Center 0 0 0 0 0 0 1 1

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