ClinVar Miner

Variants in gene TRPM4

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Minimum submission review status: Collection method:
Minimum conflict level:
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 total
9 2 341 156 59 502

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Progressive familial heart block type IB 8 0 283 76 36 367
not provided 0 1 54 42 15 109
not specified 0 0 3 49 31 81
Cardiovascular phenotype 0 0 14 13 20 47
none provided 0 0 2 5 13 20
Cardiomyopathy 0 0 1 4 1 6
Hypertrophic cardiomyopathy 0 0 3 1 1 5
Brugada syndrome 0 0 4 0 0 4
Inborn genetic diseases 0 0 3 0 0 3
Progressive familial heart block 0 0 2 1 0 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 2 0 0 0 0 2
Sudden cardiac death 0 1 1 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 0 0 0 0 1 1
Cardiac arrest 0 0 1 0 0 1
Cardiac conduction defect, nonspecific 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 1
Conduction disorder of the heart 0 0 0 1 0 1
Family history of sudden cardiac death 0 0 0 1 0 1
Long QT syndrome 0 0 1 0 0 1
Restrictive cardiomyopathy; Cardiomyopathy 0 0 0 1 0 1
Seizures; Failure to thrive; Patent foramen ovale; Tachycardia; Bradycardia; Hypsarrhythmia; Hypoxemia 0 0 0 1 0 1
Sudden unexplained death 0 0 1 0 0 1
TRPM4-Related Disorders 0 0 1 0 0 1
Ventricular fibrillation 0 0 1 0 0 1
Ventricular tachycardia 0 0 0 1 0 1
Wolff-Parkinson-White pattern 0 0 1 0 0 1
short QT syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 203 74 33 311
GeneDx 0 0 27 56 43 126
Illumina Clinical Services Laboratory,Illumina 0 0 88 18 8 114
Ambry Genetics 0 0 17 13 20 50
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 10 8 13 31
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 19 2 0 22
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 3 8 3 14
Blueprint Genetics 0 0 8 1 0 9
OMIM 6 0 0 0 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 6 0 6
Baylor Genetics 3 0 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 3 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 2 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 1 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 1

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