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
73 79 609 395 144 3 1114

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 20 11 342 228 43 1 644
not provided 22 25 102 103 76 0 317
Spastic paraplegia 30, autosomal recessive 36 18 177 12 25 0 258
not specified 0 0 49 112 31 0 166
History of neurodevelopmental disorder 0 0 17 38 13 0 68
Intellectual disability, autosomal dominant 9 16 30 27 1 0 1 63
none provided 0 0 5 11 14 0 30
Inborn genetic diseases 4 7 4 0 0 0 15
Hereditary sensory and autonomic neuropathy type IIA; Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 0 1 11 0 0 0 12
Hereditary sensory and autonomic neuropathy type IIA 3 0 7 0 0 0 10
Spastic paraplegia 3 1 5 0 0 0 9
Intellectual disability 0 1 3 3 1 0 7
Hereditary sensory and autonomic neuropathy type II 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
Hereditary sensory and autonomic neuropathy type IIC 2 0 2 0 0 0 4
PEHO syndrome 3 0 0 0 0 0 3
Hereditary spastic paraplegia 2 0 0 0 0 0 2
Dandy-Walker syndrome; Laryngomalacia; Sensorineural hearing loss; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Nyctalopia; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Duane anomaly; Small hand; Cleft palate 0 0 1 0 0 0 1
Hyperreflexia; Clonus; Lower limb hyperreflexia; Spastic paraplegia 0 1 0 0 0 0 1
KIF1A-related disorders 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizures 0 0 1 0 0 0 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 11 342 274 47 0 692
GeneDx 20 10 47 106 74 0 257
Illumina Clinical Services Laboratory,Illumina 0 0 169 10 25 0 204
Ambry Genetics 4 7 21 38 13 0 83
Genetic Services Laboratory, University of Chicago 1 3 37 28 2 0 71
Athena Diagnostics Inc 0 0 20 7 25 0 52
CeGaT Praxis fuer Humangenetik Tuebingen 2 7 34 8 0 0 51
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 13 13 15 0 41
SIB Swiss Institute of Bioinformatics 3 26 8 0 0 0 37
Paris Brain Institute,Inserm - ICM 31 0 4 0 0 0 35
Baylor Genetics 5 4 24 0 0 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 9 2 7 0 19
OMIM 17 0 0 0 0 0 17
Fulgent Genetics,Fulgent Genetics 0 1 11 0 0 0 12
CHU Sainte-Justine Research Center,University of Montreal 2 9 0 0 0 0 11
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 7 0 0 0 0 9
Mendelics 1 3 1 2 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 2 3 1 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 1 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 3
Child and Family Research Institute 3 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
New York Genome Center 0 0 3 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 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
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare 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
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Developmental Genetics Unit,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 Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 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
CHLA 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
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 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

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