ClinVar Miner

Variants in gene NEK1

See also:
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 risk factor other total
50 43 355 287 103 4 3 742

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Short-rib thoracic dysplasia 6 with or without polydactyly 44 26 277 199 42 0 0 545
not provided 7 5 44 82 76 0 0 201
NEK1-related condition 0 7 28 35 0 0 0 70
not specified 1 0 5 12 16 0 0 32
Inborn genetic diseases 0 0 21 3 0 0 0 24
Connective tissue disorder 1 0 11 4 3 0 0 19
Motor neuron disease 0 4 6 5 0 0 3 18
Amyotrophic lateral sclerosis, susceptibility to, 24 1 4 3 1 0 4 0 13
Short rib-polydactyly syndrome 0 0 3 2 0 0 0 5
Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis, susceptibility to, 24 1 1 2 1 0 0 0 5
Amyotrophic lateral sclerosis 0 0 2 0 0 0 0 2
Asphyxiating thoracic dystrophy 1 0 0 2 0 0 0 0 2
Asphyxiating thoracic dystrophy 3 2 0 0 0 0 0 0 2
Immunodeficiency; Lymphopenia; Cor triatriatum dexter; Cough 0 0 2 0 0 0 0 2
Mohr syndrome 2 0 0 0 0 0 0 2
Jeune thoracic dystrophy 0 1 1 0 0 0 0 1
Type IV short rib polydactyly syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Invitae 24 10 205 197 36 0 0 472
GeneDx 5 3 11 58 80 0 0 157
Illumina Laboratory Services, Illumina 0 0 79 13 18 0 0 110
PreventionGenetics, part of Exact Sciences 0 7 28 35 0 0 0 70
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 14 15 11 0 0 42
Ambry Genetics 0 0 21 3 0 0 0 24
Eurofins Ntd Llc (ga) 3 0 15 3 3 0 0 24
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 0 11 4 3 0 0 19
CeGaT Center for Human Genetics Tuebingen 1 1 5 12 0 0 0 19
Centre for Genomic and Experimental Medicine, University of Edinburgh 0 4 6 5 0 0 3 18
OMIM 10 0 0 0 0 4 0 13
University of Washington Center for Mendelian Genomics, University of Washington 0 12 0 0 0 0 0 12
Dan Cohn Lab, University Of California Los Angeles 10 1 1 0 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 8 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 4 2 2 0 0 8
Clinical Genetics, Academic Medical Center 0 0 0 0 8 0 0 8
Revvity Omics, Revvity 2 0 4 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 1 2 1 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 1 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
3billion 1 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 1 0 0 0 0 1
UM ALS/MND Lab, University Of Malta 0 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 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.