ClinVar Miner

Variants in gene KIF1A

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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
113 118 1303 1467 258 10 2848

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 59 29 755 1266 100 2 2208
not provided 33 32 318 228 168 2 736
Inborn genetic diseases 5 7 169 155 16 0 352
Hereditary spastic paraplegia 30 39 29 183 11 24 0 275
not specified 0 0 67 81 40 0 163
Hereditary spastic paraplegia 4 3 55 18 11 0 91
Intellectual disability, autosomal dominant 9 21 34 45 1 1 1 91
KIF1A-related condition 3 1 20 46 6 0 76
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 1 1 20 3 0 0 25
History of neurodevelopmental disorder 0 0 9 3 0 0 12
Neuropathy, hereditary sensory and autonomic, type 2A 4 0 7 0 0 0 11
Neuropathy, hereditary sensory, type 2C 3 0 7 0 1 0 11
Spastic paraplegia 3 1 5 0 0 0 9
Intellectual disability 0 1 3 3 1 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
Spastic Paraplegia, Recessive 0 0 5 0 0 0 5
See cases 0 0 3 0 0 1 4
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
Charcot-Marie-Tooth disease type 2 0 1 0 0 0 0 1
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate 0 0 1 0 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9 1 0 0 0 0 0 1
Hyperreflexia; Clonus; Lower limb hyperreflexia; Spastic paraplegia 0 1 0 0 0 0 1
KIF1A-related disorder 0 0 0 0 0 1 1
KIF1A-related disorders 0 0 1 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Seizure 0 0 1 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: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 29 753 1272 100 0 2213
GeneDx 28 12 225 213 158 0 636
Ambry Genetics 5 7 177 158 16 0 363
Illumina Laboratory Services, Illumina 1 0 167 9 24 0 201
CeGaT Center for Human Genetics Tuebingen 8 9 64 57 8 0 146
Genome Diagnostics Laboratory, The Hospital for Sick Children 2 3 55 18 11 0 89
Genetic Services Laboratory, University of Chicago 1 3 50 30 5 0 89
PreventionGenetics, part of Exact Sciences 3 1 20 46 6 0 76
Athena Diagnostics Inc 0 0 30 9 27 0 66
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 14 19 21 0 54
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
Clinical Genetics, Academic Medical Center 0 0 3 12 9 0 24
Fulgent Genetics, Fulgent Genetics 0 1 20 3 0 0 24
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 9 3 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 12 0 0 0 12
New York Genome Center 0 1 11 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 8 0 0 0 0 10
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 2 3 1 0 8
3billion 3 5 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 6 0 0 0 8
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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 4 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
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
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
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 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
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 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
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
Department of Laboratory Medicine, 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1

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