ClinVar Miner

Variants in gene TRPV4

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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 association total
56 12 154 123 46 1 337

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Charcot-Marie-Tooth disease type 2C 11 3 82 29 29 0 152
not specified 0 0 11 82 28 0 112
not provided 10 8 51 7 17 0 88
Metatrophic dysplasia 13 1 14 40 10 0 78
Distal spinal muscular atrophy, congenital nonprogressive 5 0 14 40 10 0 69
Scapuloperoneal spinal muscular atrophy 3 0 14 40 10 0 67
Brachyolmia 0 0 14 40 10 0 64
Charcot-Marie-Tooth disease, type 2 0 0 14 40 10 0 64
Spondylometaphyseal dysplasia 0 0 14 40 10 0 64
Skeletal dysplasia 28 0 0 0 0 0 28
Skeletal dysplasia; Neuromuscular Diseases 13 0 0 0 0 0 13
Charcot-Marie-Tooth disease 4 0 8 0 0 0 12
Inborn genetic diseases 3 1 6 0 0 0 10
Brachyrachia (short spine dysplasia); Digital arthropathy-brachydactyly, familial; Metatrophic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepiphyseal dysplasia Maroteaux type; Distal spinal muscular atrophy, congenital nonprogressive; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease type 2C; Avascular necrosis of femoral head, primary, 2 1 0 5 0 0 0 6
Neuromuscular Diseases 6 0 0 0 0 0 6
Spondylometaphyseal dysplasia, Kozlowski type 5 0 1 0 0 0 6
Spondyloepiphyseal dysplasia Maroteaux type 5 0 0 0 0 0 5
Autosomal dominant distal hereditary motor neuropathy 0 0 4 0 0 0 4
Digital arthropathy-brachydactyly, familial 4 0 0 0 0 0 4
Brachyrachia (short spine dysplasia) 2 0 0 0 0 0 2
Avascular necrosis of femoral head, primary, 2 1 0 0 0 0 0 1
Parastremmatic dwarfism 1 0 0 0 0 0 1
Sodium serum level quantitative trait locus 1 0 0 0 0 0 1 1
TRPV4-Associated Disorders 0 0 1 0 0 0 1
Talipes equinovarus; EMG abnormality; Lower limb amyotrophy 1 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 association total
Invitae 9 2 81 29 29 0 150
GeneDx 6 5 42 77 10 0 140
Illumina Clinical Services Laboratory,Illumina 0 0 15 40 10 0 65
GeneReviews 49 0 0 0 3 0 52
Athena Diagnostics Inc 5 0 8 1 21 0 35
OMIM 33 0 0 0 0 1 34
PreventionGenetics 0 0 0 8 16 0 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 7 5 11 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 3 6 8 0 18
Inherited Neuropathy Consortium 0 0 12 0 0 0 12
Ambry Genetics 3 1 6 0 0 0 10
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 3 1 0 0 0 6
Fulgent Genetics 1 0 5 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 2 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 0 4
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 1 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 0 0 0 1
Medical Genetics,Meyer Children Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1

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