ClinVar Miner

Variants in gene KIF1B

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
7 7 2279 1423 188 47 3733

Condition and significance breakdown #

Total conditions: 51
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 1840 1001 50 0 2875
Charcot-Marie-Tooth disease type 2 0 0 674 606 52 0 1332
not provided 0 2 86 89 118 0 267
Neuroblastoma 0 1 108 31 53 0 193
Charcot-Marie-Tooth disease 0 1 45 41 30 0 116
KIF1B-related disorder 0 0 22 52 8 0 82
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1 0 0 61 3 1 0 65
Charcot-Marie-Tooth disease type 2A1 3 0 26 0 4 0 33
Pheochromocytoma 0 0 28 1 4 0 33
Neuroblastoma, susceptibility to, 1 3 0 24 0 0 0 27
Acute myeloid leukemia 0 0 0 0 0 8 8
Hereditary cancer-predisposing syndrome 0 0 2 1 5 0 8
Lung cancer 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Meniere disease 0 0 4 0 0 0 4
Cervical cancer 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1 0 0 1 2 0 0 3
Gastric cancer 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 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
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Glioma susceptibility 1 0 0 0 0 0 2 2
Hereditary cancer 0 0 0 2 0 0 2
Malignant tumor of breast 0 0 0 2 0 0 2
Ovarian cancer 0 1 0 0 1 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Adult-onset 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
Cholangiocarcinoma 0 0 0 0 0 1 1
Gait ataxia 0 0 1 0 0 0 1
Global developmental delay; EEG abnormality; Exaggerated startle response 0 1 0 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
Hepatocellular carcinoma 0 0 0 0 0 1 1
Intellectual disability 0 0 1 0 0 0 1
Joint laxity; EMG abnormality; EMG: myopathic abnormalities; Pain 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Multiple endocrine neoplasia type 2A 0 1 0 0 0 0 1
NEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED 1 0 0 0 0 0 1
Neuromuscular disease 0 0 0 1 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Vitiligo; Distal muscle weakness; EMG abnormality; EMG: axonal abnormality 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 1829 978 41 0 2848
Labcorp Genetics (formerly Invitae), Labcorp 0 0 674 609 52 0 1335
Illumina Laboratory Services, Illumina 0 0 106 30 53 0 189
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 32 41 30 0 103
CeGaT Center for Human Genetics Tuebingen 0 0 26 66 10 0 102
PreventionGenetics, part of Exact Sciences 0 0 22 52 16 0 90
GeneDx 0 0 3 0 78 0 81
Breakthrough Genomics, Breakthrough Genomics 0 0 7 11 60 0 78
Fulgent Genetics, Fulgent Genetics 0 0 58 3 0 0 61
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 48 0 0 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 12 11 24 0 47
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 47 47
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 19 28 0 0 47
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 21 0 0 0 21
Clinical Genetics, Academic Medical Center 0 0 1 5 14 0 20
Eurofins Ntd Llc (ga) 0 0 11 1 6 0 18
Genesis Genome Database 0 0 16 0 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 0 4 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 6 1 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 10 4 0 14
Revvity Omics, Revvity 0 0 13 0 0 0 13
Mendelics 0 0 5 3 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 0 0 7
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 2 1 4 0 7
OMIM 6 0 0 0 0 0 6
Dasa 0 0 1 1 3 0 5
Genetic Services Laboratory, University of Chicago 0 0 1 4 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Center for Computational Biology & Bioinformatics, University of California, San Diego 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 1 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 2 0 0 1 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Center of Medical Genetics and Primary Health Care 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 2 0 2
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 1 0 2
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 1 1 0 0 2
Next Generation Genetic Polyclinic 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 1 0 0 0 0 1
Meniere Disease Neuroscience Research Program, Faculty of Medicine and Health, Kolling Institute, The University of Sydney 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.