ClinVar Miner

Variants in gene WNK1

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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 total
40 4 527 213 144 861

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 11 2 392 149 33 586
Pseudohypoaldosteronism type 2C 2 1 81 16 97 197
not provided 2 2 39 69 37 149
Hereditary sensory and autonomic neuropathy type IIA 28 1 9 0 12 50
not specified 0 0 7 5 27 39
Pseudohypoaldosteronism type 2A 0 0 13 8 1 22
none provided 0 0 6 6 8 20
Hereditary sensory and autonomic neuropathy type II 0 0 13 6 0 19
Charcot-Marie-Tooth disease 0 0 5 0 0 5
Variant of unknown significance 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 2 391 182 36 622
Illumina Clinical Services Laboratory,Illumina 0 0 91 24 98 213
GeneDx 1 1 8 6 33 49
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 13 7 10 30
Athena Diagnostics Inc 0 0 1 0 20 21
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 12 2 6 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 12 5 0 17
Institute of Human Genetics, University Hospital Jena 16 0 0 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 0 15 15
OMIM 11 0 2 0 0 13
Baylor Genetics 0 1 6 0 0 7
GeneReviews 5 0 0 0 0 5
Inherited Neuropathy Consortium 0 0 5 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Department of Neurology,Hospital Garcia de Orta 1 0 0 0 0 1

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