ClinVar Miner

Variants in gene KIF1B

Minimum submission review status: Collection method:
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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 risk factor total
3 4 372 162 89 4 584

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Charcot-Marie-Tooth disease, type 2 0 0 200 76 36 0 311
Neuroblastoma 0 1 129 39 57 0 226
Charcot-Marie-Tooth disease 1 1 49 44 30 0 124
not provided 0 2 27 32 4 0 63
Pheochromocytoma 1 0 20 4 2 0 27
not specified 0 0 2 5 17 0 21
none provided 0 0 1 3 16 0 20
Neuroblastoma 1 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease, type 2A1 2 0 1 0 0 0 3
Charcot-Marie-Tooth disease type 4 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease, type I 0 0 2 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
Malignant tumor of breast 0 0 0 2 0 0 2
Adult proximal spinal muscular atrophy, autosomal dominant 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2A1; Neuroblastoma; Pheochromocytoma 0 0 1 0 0 0 1
Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Short lower limbs; Upper limb undergrowth 0 0 1 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 0 1 0 1
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 1 0 0 0 1
Palpitations; Recurrent paroxysmal headache; Adrenal pheochromocytoma 0 0 1 0 0 0 1
Vitiligo; Distal muscle weakness; EMG abnormality; EMG: axonal abnormality 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 0 0 184 84 35 0 303
Illumina Clinical Services Laboratory,Illumina 0 0 127 38 57 0 222
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 35 44 30 0 109
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 3 17 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 12 1 6 0 19
Genesis Genome Database 0 0 18 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 3 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 0 9 0 9
OMIM 3 0 0 0 0 4 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 4 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 3 0 3
GeneDx 0 0 3 0 0 0 3
Mendelics 0 0 2 1 0 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 2 0 0 1 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 2 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Center for Statistical Genetics, Columbia University 0 0 2 0 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 1 0 0 0 1

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