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
20 10 84 36 46 4 3 174

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
not provided 5 2 23 5 27 0 0 62
Short Rib Polydactyly Syndrome 0 0 44 11 6 0 0 61
Short rib-polydactyly syndrome, Majewski type 15 2 10 4 14 0 0 43
not specified 0 0 5 13 15 0 0 32
Motor neuron disease 0 6 4 5 0 0 3 18
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 0 0 0 0 0 4 0 4
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
Jeune thoracic dystrophy 0 0 1 0 0 0 0 1
See cases 0 0 0 1 0 0 0 1
Type IV short rib polydactyly syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Illumina Clinical Services Laboratory,Illumina 0 0 45 11 6 0 0 62
GeneDx 2 1 4 14 36 0 0 57
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 15 3 3 0 0 24
Invitae 0 0 9 3 7 0 0 19
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 4 2 6 0 0 13
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 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

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