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
2 4 148 79 44 4 251

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Charcot-Marie-Tooth disease, type 2 0 0 126 74 34 0 213
Neuroblastoma 0 1 90 52 8 0 151
Pheochromocytoma 1 0 90 52 8 0 151
not provided 0 2 18 3 5 0 27
not specified 0 0 0 5 16 0 18
Neuroblastoma 1 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease 1 1 0 0 0 0 2
Charcot-Marie-Tooth disease, type 2A1 1 0 1 0 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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 90 52 8 0 150
Invitae 0 0 37 22 26 0 85
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 12 1 6 0 19
PreventionGenetics 0 0 0 0 9 0 9
OMIM 2 0 0 0 0 4 5
Genetic Services Laboratory, University of Chicago 0 0 0 4 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 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
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 2 0 0 1 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 2 0 2
Division of Genomic Diagnostics,The 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
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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