ClinVar Miner

Variants in gene KIF1A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
38 39 272 220 54 2 520

Condition and significance breakdown #

Total conditions: 20
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 8 6 107 86 40 0 247
not specified 0 0 50 112 24 0 162
not provided 20 14 78 9 7 0 126
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 10 16 3 0 0 1 23
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
Inborn genetic diseases 4 1 4 0 0 0 9
PEHO syndrome 3 0 0 0 0 0 3
Spastic paraplegia 30, autosomal recessive 2 0 1 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: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 6 107 86 40 0 249
GeneDx 20 10 47 86 16 0 179
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 13 10 3 0 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 9 2 7 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 14 2 0 0 19
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 2 1 0 8
Baylor Miraca Genetics Laboratories, 0 1 3 0 0 0 4
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 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 2 0 0 0 0 0 2
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 2 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.