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
24 21 137 79 55 4 3 270

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
Short rib-polydactyly syndrome, Majewski type 19 11 99 34 29 0 0 170
not provided 5 2 23 28 26 0 0 81
not specified 0 0 4 13 15 0 0 31
none provided 1 0 7 7 9 0 0 24
Motor neuron disease 0 6 4 5 0 0 3 18
Amyotrophic lateral sclerosis, susceptibility to, 24 0 1 2 1 0 4 0 8
Short Rib Polydactyly Syndrome 0 0 3 2 0 0 0 5
Amyotrophic lateral sclerosis 0 0 2 0 0 0 0 2
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 1 1 0 0 0 0 1
See cases 0 0 0 1 0 0 0 1
Type IV short rib polydactyly syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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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 3 0 20 44 14 0 0 81
GeneDx 2 1 4 14 36 0 0 57
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 10 10 10 0 0 32
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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 4 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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
ALS/MND Lab,University of Malta 0 0 1 0 0 0 0 1

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