RBM20 Chromosome 10

RNA binding motif protein 20
381 variants 381 Health Risk

Upload your DNA to see your personal genotypes for variants in RBM20.

What This Gene Does
This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
"Zinc fingers matrin-type|RNA binding motif containing"
Locus Type
gene with protein product
Location
10q25.2
Ensembl
ENSG00000203867
Associated Conditions (20)
Dilated cardiomyopathy 1DD
Cardiovascular phenotype
RBM20-related disorder
Cardiomyopathy
Dilated cardiomyopathy 1S
Primary dilated cardiomyopathy
Dilated cardiomyopathy 1A
Primary familial hypertrophic cardiomyopathy
Heart failure
Familial dilated cardiomyopathy and peripheral neuropathy
sudden unexplained death in epilepsy
Cardiac arrest
Hypertrophic cardiomyopathy
Primary familial dilated cardiomyopathy
Conduction disorder of the heart
Ventricular fibrillation
paroxysmal familial
type 1
Arrhythmogenic right ventricular cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Key Variants
RS1006368552
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1021465138
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1024449251
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1029261119
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1033220280
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1036333804
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1041725339
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, RBM20-related disorder
Health Risk
RS1051836531
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1054551313
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
Health Risk
RS1057521554
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiomyopathy, Dilated cardiomyopathy 1DD
Health Risk
RS1060503414
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
RS1060504913
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
Health Risk
All Variants (381)
RSID Category Clinical Significance Conditions
RS375626512 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Cardiomyopathy
RS375798246 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiomyopathy
RS376071070 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS376380567 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS376463335 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS377091991 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS377259044 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS377623370 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516593 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516595 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS397516596 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS397516597 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516598 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary familial dilated cardiomyopathy, Cardiovascular phenotype
RS397516599 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS397516601 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, RBM20-related disorder
RS397516602 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiomyopathy
RS397516603 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial, type 1
RS397516608 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516610 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS397516616 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy, Dilated cardiomyopathy 1DD
RS397516618 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS397516621 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS397516622 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Cardiomyopathy
RS397516625 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy, Cardiovascular phenotype
RS41292592 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy, Cardiovascular phenotype
RS529403382 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS534513476 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS535221986 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS536357058 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS537723089 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Cardiomyopathy
RS540014314 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy, Cardiovascular phenotype
RS540962668 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS541043583 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS542484442 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS543478618 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS544407865 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS548382173 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS550942448 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Cardiomyopathy
RS551819918 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS552114741 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS554167951 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS554690506 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS555981231 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS556897484 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS558440936 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS558674954 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS559040957 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS561085365 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS561904103 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS562882648 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD
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