ClinVar Miner

Variants in gene TRPV4

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Minimum submission review status: Collection method:
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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 not provided total
58 22 327 204 94 1 1 597

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Charcot-Marie-Tooth disease axonal type 2C 13 6 252 115 44 0 1 410
not provided 12 10 59 44 40 0 0 159
Charcot-Marie-Tooth disease 5 2 48 47 23 0 0 124
Metatrophic dysplasia 13 2 33 11 58 0 0 117
not specified 0 0 11 82 30 0 0 113
Distal spinal muscular atrophy, congenital nonprogressive 5 0 34 11 58 0 0 107
Spondylometaphyseal dysplasia, Kozlowski type 5 0 32 11 59 0 0 107
Scapuloperoneal spinal muscular atrophy 3 1 33 11 58 0 0 105
Brachyrachia (short spine dysplasia) 3 0 33 10 58 0 0 104
Skeletal dysplasia 28 0 0 0 0 0 0 28
none provided 0 0 5 6 14 0 0 25
Skeletal dysplasia; Neuromuscular disease 13 0 0 0 0 0 0 13
Inborn genetic diseases 3 2 6 0 0 0 0 11
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 axonal type 2C; Avascular necrosis of femoral head, primary, 2 1 0 5 0 0 0 0 6
Neuromuscular disease 6 0 0 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
Charcot-Marie-Tooth disease type 4 0 0 2 0 0 0 0 2
Parastremmatic dwarfism 2 0 0 0 0 0 0 2
Avascular necrosis of femoral head, primary, 2 1 0 0 0 0 0 0 1
Brachyolmia 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 0 0 1
Clubfoot; EMG abnormality; Lower limb amyotrophy 1 0 0 0 0 0 0 1
Hereditary motor neuron disease 0 1 0 0 0 0 0 1
Skeletal dysplasia and progressive central nervous system degeneration, lethal 1 0 0 0 0 0 0 1
Sodium serum level quantitative trait locus 1 0 0 0 0 0 1 0 1
Spondylometaphyseal dysplasia 0 0 0 1 0 0 0 1
TRPV4-Associated Disorders 0 0 1 0 0 0 0 1
TRPV4-associated skeletal dysplasias 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 12 3 218 113 38 0 0 384
GeneDx 6 5 42 85 25 0 0 163
Molecular Genetics Laboratory,London Health Sciences Centre 3 2 38 47 23 0 0 113
Illumina Clinical Services Laboratory,Illumina 0 0 46 38 59 0 0 104
GeneReviews 49 0 0 0 3 0 0 52
Athena Diagnostics Inc 5 0 12 1 31 0 0 49
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 8 13 17 0 0 39
OMIM 33 0 0 0 0 1 0 34
PreventionGenetics, PreventionGenetics 0 0 0 8 16 0 0 24
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 7 5 11 0 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 7 4 0 0 0 15
Inherited Neuropathy Consortium 0 1 12 0 0 0 0 13
Ambry Genetics 3 2 6 0 0 0 0 11
Genesis Genome Database 0 0 9 0 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 5 0 0 0 0 8
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
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 2 0 0 0 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
Baylor Genetics 1 0 0 0 0 0 0 1
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 0 0 0 0 1

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