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
41 50 328 345 127 2 767

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 20 17 82 201 108 0 410
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 13 9 169 30 7 0 227
not specified 0 0 53 113 29 0 169
Hereditary sensory and autonomic neuropathy type II 0 0 74 34 0 0 108
Intellectual Disability, Dominant 0 0 74 34 0 0 108
Spastic Paraplegia, Recessive 0 0 74 34 0 0 108
History of neurodevelopmental disorder 0 0 18 37 13 0 68
Mental retardation, autosomal dominant 9 12 18 4 0 0 1 27
Hereditary sensory and autonomic neuropathy type IIA; Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 1 11 0 0 0 12
Spastic paraplegia 30, autosomal recessive 4 4 2 2 0 0 12
Inborn genetic diseases 4 1 4 0 0 0 9
PEHO syndrome 3 0 0 0 0 0 3
Hereditary sensory and autonomic neuropathy type IIA 2 0 0 0 0 0 2
Hereditary sensory and autonomic neuropathy type IIC 2 0 0 0 0 0 2
Hereditary spastic paraplegia 2 0 0 0 0 0 2
Spastic paraplegia 0 1 1 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
See cases 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 9 169 209 47 0 446
GeneDx 20 10 47 106 74 0 257
Illumina Clinical Services Laboratory,Illumina 0 0 74 34 0 0 108
Ambry Genetics 4 1 22 37 13 0 77
Genetic Services Laboratory, University of Chicago 1 3 41 24 2 0 71
Athena Diagnostics Inc 0 0 14 11 11 0 36
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 20 4 0 0 30
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 3 8 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 9 2 7 0 19
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
OMIM 10 0 0 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 6 2 1 0 9
Mendelics 1 3 1 2 0 0 7
Baylor Genetics 2 1 2 0 0 0 5
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
Child and Family Research Institute 3 0 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
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Neuromuscular disorders lab,University of Helsinki 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 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
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
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1

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