ClinVar Miner

Variants in gene TPM1

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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 not provided total
16 49 243 148 33 32 440

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cardiomyopathy 2 6 54 86 13 0 158
Hypertrophic cardiomyopathy 7 11 85 28 6 0 132
not provided 10 18 55 22 13 26 128
not specified 0 0 58 45 14 1 111
Familial hypertrophic cardiomyopathy 3 4 1 28 1 3 3 37
Dilated cardiomyopathy 1Y 2 1 26 3 1 2 33
Cardiovascular phenotype 1 4 14 5 3 0 27
Primary dilated cardiomyopathy 1 10 2 0 0 0 13
Primary familial hypertrophic cardiomyopathy 2 3 7 0 0 0 12
Familial hypertrophic cardiomyopathy 1 0 2 2 0 1 0 5
Dilated Cardiomyopathy, Dominant 0 0 2 2 0 0 4
Left ventricular noncompaction 9 4 0 0 0 0 0 4
Left ventricular noncompaction cardiomyopathy 0 1 2 0 0 0 3
mitochondrial 1 0 1 0 0 0 2
Atrial septal defect 1 0 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 1
Dilated cardiomyopathy 0 1 0 0 0 0 1
Effort-induced polymorphic ventricular tachycardias 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 1 0 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 1
Myopathy; EMG abnormality; EMG: myopathic abnormalities; Shoulder girdle muscle weakness; Scapular winging; Pelvic girdle muscle weakness; Proximal upper limb amyotrophy 0 0 1 0 0 0 1
Pulmonary atresia with intact ventricular septum 0 1 0 0 0 0 1
Tachycardia 0 0 1 0 0 0 1
Tetralogy of Fallot 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color 1 0 44 85 11 0 141
Invitae 7 1 80 32 6 0 126
GeneDx 10 13 44 35 23 0 125
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 17 48 23 7 1 99
Illumina Clinical Services Laboratory,Illumina 0 0 27 5 3 0 33
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 31 31
Ambry Genetics 1 4 14 5 3 0 27
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 3 11 2 3 0 20
Blueprint Genetics 2 4 14 1 0 0 20
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 3 12 0 0 0 16
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 5 1 2 0 11
OMIM 9 0 0 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 2 0 4 0 0 0 6
Center for Human Genetics,University of Leuven 0 2 3 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 1 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 3 2 0 0 0 5
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 1 3 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 0 0 3
PreventionGenetics,PreventionGenetics 0 0 0 0 3 0 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 1 0 0 0 3
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 0 0 0 2
Mendelics 0 1 0 0 1 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 0 2
Klaassen Lab,Charite University Medicine Berlin 0 1 1 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 1 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Phosphorus, Inc. 1 0 0 0 0 0 1

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