ClinVar Miner

Variants in gene TRPV4

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 not provided total
56 15 189 165 69 1 1 422

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 10 8 54 79 62 0 0 199
Charcot-Marie-Tooth disease type 2C 11 5 112 11 3 0 1 140
not specified 0 0 11 82 31 0 0 114
Metatrophic dysplasia 13 1 14 40 10 0 0 78
Distal spinal muscular atrophy, congenital nonprogressive 5 0 15 40 10 0 0 69
Scapuloperoneal spinal muscular atrophy 3 0 14 40 10 0 0 67
Brachyolmia 0 0 14 40 10 0 0 64
Charcot-Marie-Tooth disease, type 2 0 0 14 40 10 0 0 64
Spondylometaphyseal dysplasia 0 0 14 40 10 0 0 64
Skeletal dysplasia 28 0 0 0 0 0 0 28
Charcot-Marie-Tooth disease 4 0 11 0 0 0 0 15
Skeletal dysplasia; Neuromuscular Diseases 13 0 0 0 0 0 0 13
Inborn genetic diseases 3 1 6 0 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 0 6
Neuromuscular Diseases 6 0 0 0 0 0 0 6
Spondylometaphyseal dysplasia, Kozlowski type 5 0 1 0 0 0 0 6
Spondyloepiphyseal dysplasia Maroteaux type 5 0 0 0 0 0 0 5
Autosomal dominant distal hereditary motor neuropathy 0 0 4 0 0 0 0 4
Digital arthropathy-brachydactyly, familial 4 0 0 0 0 0 0 4
Distal spinal muscular atrophy 0 0 3 0 0 0 0 3
Brachyrachia (short spine dysplasia) 2 0 0 0 0 0 0 2
Charcot-Marie-Tooth disease type 4 0 0 2 0 0 0 0 2
Avascular necrosis of femoral head, primary, 2 1 0 0 0 0 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 0 0 1
Genetic motor neuron disease 0 1 0 0 0 0 0 1
Parastremmatic dwarfism 1 0 0 0 0 0 0 1
Sodium serum level quantitative trait locus 1 0 0 0 0 0 1 0 1
TRPV4-Associated Disorders 0 0 1 0 0 0 0 1
Talipes equinovarus; EMG abnormality; Lower limb amyotrophy 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 9 3 111 77 38 0 0 238
GeneDx 6 5 42 85 25 0 0 163
Illumina Clinical Services Laboratory,Illumina 0 0 15 40 10 0 0 65
GeneReviews 49 0 0 0 3 0 0 52
Athena Diagnostics Inc 5 0 9 1 28 0 0 43
OMIM 33 0 0 0 0 1 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 7 16 0 0 27
PreventionGenetics,PreventionGenetics 0 0 0 8 16 0 0 24
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 7 5 11 0 0 24
Inherited Neuropathy Consortium 0 1 12 0 0 0 0 13
Ambry Genetics 3 1 6 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 2 0 0 0 9
Genesis Genome Database 0 0 9 0 0 0 0 9
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 3 1 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 1 0 5 0 0 0 0 6
Mendelics 0 0 0 2 2 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 2 0 0 4
Institute of Human Genetics,Cologne University 1 0 1 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 1 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 0 1
Medical Genetics,Meyer Children Hospital 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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