ClinVar Miner

Variants in gene NEK1

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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 other total
22 11 127 66 55 4 3 250

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Short rib-polydactyly syndrome, Majewski type 17 2 91 23 29 0 0 150
not provided 5 2 24 27 27 0 0 83
not specified 0 0 4 13 15 0 0 31
Motor neuron disease 0 6 4 5 0 0 3 18
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 0 0 3 1 6 4 0 14
Short Rib Polydactyly Syndrome 0 0 3 2 0 0 0 5
Immunodeficiency; Lymphopenia; Cor triatriatum dexter; Cough 0 0 2 0 0 0 0 2
Short rib-polydactyly syndrome, Majewski type; AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 1 0 1 0 0 0 0 2
Short-rib thoracic dysplasia 1 with or without polydactyly 0 0 2 0 0 0 0 2
Short-rib thoracic dysplasia 3 with or without polydactyly 2 0 0 0 0 0 0 2
Amyotrophic lateral sclerosis 0 0 1 0 0 0 0 1
Cerebellar ataxia; Seizures; Psychomotor retardation 0 1 0 0 0 0 0 1
Cryptorchidism; Global developmental delay; Hydronephrosis; Scrotal hypoplasia; Pectus carinatum; Generalized hypotonia; Pulmonary artery stenosis; Unusual dermatoglyphics 0 0 1 0 0 0 0 1
Jeune thoracic dystrophy 0 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 0 1
Strabismus; Concomitant strabismus; Exodeviation 0 0 1 0 0 0 0 1
Type IV short rib polydactyly syndrome 1 0 0 0 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 other total
Illumina Clinical Services Laboratory,Illumina 0 0 80 13 20 0 0 113
Invitae 2 0 15 34 14 0 0 65
GeneDx 2 1 4 14 36 0 0 57
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 15 3 3 0 0 24
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 6 4 5 0 0 3 18
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 5 3 8 0 0 17
Dan Cohn Lab,University Of California Los Angeles 10 1 1 0 0 0 0 12
OMIM 8 0 0 0 0 4 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 8 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 4 0 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University 0 0 1 0 0 0 0 1

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