Gene entry
RBM20
RNA binding motif protein 20
- Chromosome
- 10
- Cytoband
- 10q25.2
- Variants (rsID)
- 90
RBM20 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q25.2). Its official name is “RNA binding motif protein 20”. The reference table lists 90 variants (rsID) for this gene.
Clinically classified variants
39 reference-table entries with clinical significance.
- rs189569984Benignsingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome
- rs61735268Benignsingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1DD|Cardiomyopathy
- rs7077757Benignsingle nucleotide variantDilated cardiomyopathy 1DD
- rs79603535Benignsingle nucleotide variantDilated cardiomyopathy 1DD
- rs874241Benignsingle nucleotide variantDilated cardiomyopathy 1DD
- rs138926584Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs181769913Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1DD|Cardiomyopathy
- rs187423999Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs187915202Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs191342808Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiomyopathy
- rs199842148Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs200271618Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiomyopathy
- rs200588338Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy
- rs201047984Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1DD
- rs201370621Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Cardiac arrest|Cardiomyopathy|Primary dilated cardiomyopathy
- rs202238753Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiovascular phenotype|Primary dilated cardiomyopathy|Cardiomyopathy
- rs373797219Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiomyopathy
- rs397516616Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiomyopathy
- rs41292592Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy
- rs537723089Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy
- rs550942448Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs554167951Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Dilated cardiomyopathy 1DD
- rs563762318Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1DD
- rs60618533Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiomyopathy|Hypertrophic cardiomyopathy
- rs61735272Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiovascular phenotype|Cardiomyopathy
- rs727503388Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiomyopathy
- rs727503392Conflicting interpretationssingle nucleotide variantPrimary dilated cardiomyopathy|Dilated cardiomyopathy 1DD|Hypertrophic cardiomyopathy|Cardiomyopathy
- rs745544964Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs76048624Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs764304126Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD|Cardiovascular phenotype
- rs766779254Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1DD
- rs563500712Likely benignsingle nucleotide variantDilated cardiomyopathy 1DD
- rs77555440Likely benignsingle nucleotide variantDilated cardiomyopathy 1DD
- rs267607001Pathogenicsingle nucleotide variantDilated cardiomyopathy 1DD
- rs267607002Pathogenicsingle nucleotide variantDilated cardiomyopathy 1DD|Primary dilated cardiomyopathy
- rs267607003Pathogenicsingle nucleotide variantDilated cardiomyopathy 1DD|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1S|Cardiovascular phenotype|Dilated cardiomyopathy 1A
- rs267607004Pathogenicsingle nucleotide variantDilated cardiomyopathy 1DD|Primary dilated cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiomyopathy
- rs183130427Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1DD
- rs397516618Uncertain significancesingle nucleotide variantDilated cardiomyopathy 1DD
Other listed variants
- rs1322998
- rs1322999
- rs1417636
- rs2031130
- rs2146545
- rs2146546
- rs2900925
- rs4918565
- rs4918600
- rs6585015
- rs7069118
- rs7085626
- rs7904854
- rs9633720
- rs9971359
- rs10749041
- rs10787259
- rs10885008
- rs10885023
- rs10885031
- rs10885041
- rs11195286
- rs11592409
- rs12219040
- rs12356300
- rs12358914
- rs12359907
- rs12783409
- rs17762956
- rs17831429
- rs28697872
- rs34038942
- rs55873340
- rs59523266
- rs61862866
- rs61862917
- rs61862943
- rs74853168
- rs74926028
- rs75497793
- rs78010021
- rs79754691
- rs117121692
- rs117177806
- rs117234122
- rs117302013
- rs117325635
- rs117921405
- rs118088040
- rs138722848
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.