ClinVar Miner

Variants in gene KIF1A

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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 not provided total
122 137 1458 1599 259 10 3132

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 62 34 835 1390 103 2 2423
not provided 36 35 420 254 181 2 874
Inborn genetic diseases 5 8 180 159 16 0 368
Hereditary spastic paraplegia 30 41 38 188 13 25 0 292
not specified 0 0 77 90 42 0 181
KIF1A-related disorder 4 1 35 60 8 1 109
Intellectual disability, autosomal dominant 9 23 39 53 2 2 1 108
Hereditary spastic paraplegia 4 4 54 18 11 0 91
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 1 1 25 3 0 0 30
Neuropathy, hereditary sensory, type 2C 3 0 10 0 1 0 14
Neuropathy, hereditary sensory and autonomic, type 2A 4 0 7 0 0 0 11
History of neurodevelopmental disorder 0 0 8 2 0 0 10
Spastic paraplegia 3 1 5 0 0 0 9
Intellectual disability 0 1 2 3 1 0 7
KIF1A related neurological disorder 2 0 3 0 2 0 7
Hereditary sensory and autonomic neuropathy type 2 0 0 5 0 0 0 5
Intellectual Disability, Dominant 0 0 5 0 0 0 5
See cases 1 0 3 0 0 1 5
Spastic Paraplegia, Recessive 0 0 5 0 0 0 5
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C 0 0 0 0 0 3 3
PEHO syndrome 3 0 0 0 0 0 3
Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9 1 1 0 0 0 0 2
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30b, autosomal recessive 0 1 1 0 0 0 2
Spastic paraplegia 30b, autosomal recessive 2 0 0 0 0 0 2
Autosomal dominant non-syndromic intellectual disability 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2 0 1 0 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Hyperreflexia; Clonus; Lower limb hyperreflexia; Spastic paraplegia 0 1 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1
Syndromic intellectual disability 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 107
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 34 833 1396 103 0 2428
GeneDx 30 14 296 213 158 0 711
Ambry Genetics 5 8 187 161 16 0 377
Illumina Laboratory Services, Illumina 1 0 167 9 24 0 201
CeGaT Center for Human Genetics Tuebingen 11 10 80 74 9 0 184
Breakthrough Genomics, Breakthrough Genomics 0 0 12 36 75 0 123
PreventionGenetics, part of Exact Sciences 4 1 34 60 8 0 107
Genome Diagnostics Laboratory, The Hospital for Sick Children 2 4 54 18 11 0 89
Genetic Services Laboratory, University of Chicago 1 3 50 30 5 0 89
Athena Diagnostics 0 0 34 11 31 0 76
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 15 20 28 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 21 11 1 0 39
SIB Swiss Institute of Bioinformatics 3 26 8 0 0 0 37
Baylor Genetics 5 4 27 0 0 0 36
Paris Brain Institute, Inserm - ICM 31 0 4 0 0 0 35
Revvity Omics, Revvity 3 2 28 0 0 0 33
Fulgent Genetics, Fulgent Genetics 0 2 20 3 0 0 25
Clinical Genetics, Academic Medical Center 0 0 3 12 9 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 7 3 1 0 21
Mayo Clinic Laboratories, Mayo Clinic 0 0 20 0 0 0 20
Eurofins Ntd Llc (ga) 1 0 9 2 7 0 19
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 16 1 0 19
OMIM 17 0 0 0 0 0 17
3billion 6 6 2 0 0 0 14
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 10 0 0 0 0 12
New York Genome Center 0 1 11 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 2 0 10 0 0 0 12
Mendelics 2 3 2 2 2 0 11
CHU Sainte-Justine Research Center, University of Montreal 2 9 0 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 2 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 6 2 1 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 7 0 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 5 0 1 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 2 3 1 0 8
Solve-RD Consortium 0 8 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 2 3 1 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 5 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 3 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 2 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
Child and Family Research Institute 3 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 2 0 0 0 0 3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 2 1 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 2 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1

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