ClinVar Miner

Variants in gene KIF1A

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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
134 148 1567 1686 263 44 3357

Condition and significance breakdown #

Total conditions: 48
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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 68 37 896 1472 104 2 2576
not provided 38 38 487 278 182 3 964
Inborn genetic diseases 7 8 189 163 16 0 383
Hereditary spastic paraplegia 30 42 38 190 13 25 0 295
not specified 0 0 95 114 51 0 222
Intellectual disability, autosomal dominant 9 23 42 57 3 2 1 116
KIF1A-related disorder 6 1 36 60 8 1 112
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 11 0 1 0 15
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
KIF1A related neurological disorder 4 1 3 1 2 0 11
Neuropathy, hereditary sensory and autonomic, type 2A 4 0 7 0 0 0 11
Spastic paraplegia 3 1 5 0 0 0 9
History of neurodevelopmental disorder 0 0 6 2 0 0 8
Intellectual disability 0 1 2 3 1 0 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Lung cancer 0 0 0 0 0 5 5
See cases 1 0 3 0 0 1 5
Spastic paraplegia 30A, autosomal dominant 3 2 0 0 0 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C 0 0 0 0 0 3 3
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30B, autosomal recessive 0 1 2 0 0 0 3
PEHO syndrome 3 0 0 0 0 0 3
Familial cancer of breast 0 0 0 0 0 2 2
Hereditary ataxia 0 0 1 1 0 0 2
Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9 1 1 0 0 0 0 2
Spastic paraplegia 30B, autosomal recessive 2 0 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
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
Craniosynostosis syndrome 0 0 0 1 0 0 1
Developmental disorder 0 0 1 0 0 0 1
Early-infantile developmental and epileptic encephalopathy 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hereditary spastic paraplegia 30; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30B, autosomal recessive 1 0 0 0 0 0 1
Hyperreflexia; Clonus; Lower limb hyperreflexia; Spastic paraplegia 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 9; Spastic paraplegia 30A, autosomal dominant 0 1 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Neuropathy, hereditary sensory, type 2C; Spastic paraplegia 30B, autosomal recessive 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Spastic ataxia 0 1 0 0 0 0 1
Syndromic intellectual disability 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 121
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 68 37 893 1477 104 0 2579
GeneDx 32 16 336 214 158 0 756
Ambry Genetics 7 8 194 165 16 0 390
CeGaT Center for Human Genetics Tuebingen 11 10 94 91 10 0 216
Illumina Laboratory Services, Illumina 1 0 162 9 24 0 196
Breakthrough Genomics, Breakthrough Genomics 0 0 12 36 75 0 123
PreventionGenetics, part of Exact Sciences 4 1 34 60 8 0 107
Genetic Services Laboratory, University of Chicago 1 3 50 30 5 0 89
Genome Diagnostics Laboratory, The Hospital for Sick Children 2 4 54 18 11 0 89
Athena Diagnostics 0 0 42 12 33 0 87
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 40 37 2 0 87
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 19 29 31 0 79
Mayo Clinic Laboratories, Mayo Clinic 0 0 28 16 25 0 69
Revvity Omics, Revvity 3 2 37 0 0 0 42
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
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 33 33
Fulgent Genetics, Fulgent Genetics 0 2 20 3 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 3 7 4 1 0 25
Clinical Genetics, Academic Medical Center 0 0 3 12 9 0 24
3billion 9 8 5 0 0 0 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 16 1 0 19
Eurofins Ntd Llc (ga) 1 0 9 2 7 0 19
OMIM 17 0 0 0 0 0 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 11 0 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 2 0 11 0 0 0 13
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 6 4 0 12
Mendelics 2 3 3 2 2 0 12
New York Genome Center 0 1 11 0 0 0 12
CHU Sainte-Justine Research Center, University of Montreal 2 9 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 5 2 1 0 10
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 2 0 9
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 1 2 3 1 0 0 7
GenomeConnect - Brain Gene Registry 0 0 0 0 0 6 6
Institute of Human Genetics Munich, TUM University Hospital 4 2 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 3 0 0 0 5
Dasa 5 0 0 0 0 0 5
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 5 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 3 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 5 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
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 2 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 2 1 0 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 1 2 0 0 3
Child and Family Research Institute 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 1 1 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 2 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
MVZ Martinsried, Medicover Genetics 0 0 3 0 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
Center of Human Genetics, Hôpital Erasme 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 2 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 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
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg 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
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 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 Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 1
Next Generation Genetic Polyclinic 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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