RBM20 Chromosome 10
RNA binding motif protein 20
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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 |
|---|---|---|---|
| RS1325394520 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1431456617 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1443137430 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1554842805 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1590696621 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1844336329 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1844347315 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1844355459 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1844944666 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS1861840105 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2135073795 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2135103989 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493192910 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493410346 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493412604 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493413225 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493417684 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493421291 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493449411 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493472844 | Health Risk | Pathogenic | Cardiomyopathy, Cardiomyopathy |
| RS2493473672 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493473776 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493475607 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2493495479 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS267607002 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS794729144 | Health Risk | Pathogenic | — |
| RS796734066 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Cardiovascular phenotype, Dilated cardiomyopathy 1DD |
| RS991930637 | Health Risk | Pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS2135041646 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD |
| RS267607004 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1DD, Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS397516607 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD, Cardiomyopathy |