TMEM43 Chromosome 3

Transmembrane protein 43
107 variants 107 Health Risk

Upload your DNA to see your personal genotypes for variants in TMEM43.

What This Gene Does
This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
Associated Conditions (19)
Arrhythmogenic right ventricular dysplasia 5
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy
TMEM43-related disorder
Emery-Dreifuss muscular dystrophy 7
autosomal dominant
Auditory neuropathy
autosomal dominant 3
Cervical cancer
Arrhythmogenic right ventricular cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Long QT syndrome
Thyroid cancer
nonmedullary
1
Squamous cell lung carcinoma
Familial isolated arrhythmogenic right ventricular dysplasia
Primary dilated cardiomyopathy
Key Variants
RS1046932119
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1057524625
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS116911972
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1212663056
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1247757810
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1281893880
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
Health Risk
RS1285837389
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, TMEM43-related disorder
Health Risk
RS1320848788
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1363776385
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5
Health Risk
RS1365389365
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
Health Risk
RS138182276
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
Health Risk
RS1398278496
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
Health Risk
All Variants (107)
RSID Category Clinical Significance Conditions
RS369142200 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS369551282 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5
RS369588299 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
RS369779779 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS369878538 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
RS370973153 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS371797765 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS373839281 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Auditory neuropathy, autosomal dominant 3
RS374222050 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS376514478 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS397517384 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS397517386 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Auditory neuropathy, autosomal dominant 3
RS397517387 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS539753097 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS539945827 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS544554435 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS559271953 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
RS562700595 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS570836197 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS572474708 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS730880225 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS745331190 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS746183974 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Auditory neuropathy
RS746639451 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS746672224 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS748242385 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
RS748343919 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS749727938 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS751726505 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS752269639 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS752588115 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS754536393 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS754747623 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS754797146 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS756256793 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS756575126 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS758872772 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS759676847 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS760598925 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS767516734 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS767916602 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
RS770619613 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS773224617 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Auditory neuropathy
RS774276092 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Squamous cell lung carcinoma
RS775113815 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype, Cardiomyopathy
RS775872602 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS778127887 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS780142044 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS780299346 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy, Cardiovascular phenotype
RS780389237 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
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