NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Cardiovascular phenotype
β
β
ββ2026β Residue 634
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)Pathogenic
Primary dilated cardiomyopathy|not provided|Dilated cardiomyopathy 1DD|Cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Cardiovascular phenotype
β
β
ββ2026β Residue 913
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)Pathogenic
Dilated cardiomyopathy 1DD|Primary dilated cardiomyopathy|not provided|Cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiovascular phenotype|RBM20-related disorder
β
β
ββ2026β Residue 636
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Cardiovascular phenotype
β
β
ββ2026β Residue 634
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1S|Cardiovascular phenotype|Dilated cardiomyopathy 1A|RBM20-related disorder
β
β
ββ2025β Residue 638
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)Pathogenic
not provided|Dilated cardiomyopathy 1DD
β
β
ββ2025β Residue 154
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)Pathogenic
Dilated cardiomyopathy 1DD|not provided|Primary dilated cardiomyopathy|Cardiovascular phenotype|Primary familial dilated cardiomyopathy
β
β
ββ2025β Residue 636
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)Pathogenic
not specified|Dilated cardiomyopathy 1DD|not provided|Cardiovascular phenotype|Primary dilated cardiomyopathy
β
β
ββ2025β Residue 636
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)Pathogenic
Dilated cardiomyopathy 1DD
β
β
ββ2024β Residue 636
NM_001134363.3(RBM20):c.2389dup (p.His797fs)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2026β Residue 797
NM_001134363.3(RBM20):c.604del (p.Gly201_Val202insTer)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2026β Residue 201
NM_001134363.3(RBM20):c.3451+2T>GLikely pathogenic
Dilated cardiomyopathy 1DD
β
βββ2026
NM_001134363.3(RBM20):c.826del (p.Ala276fs)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2026β Residue 276
NM_001134363.3(RBM20):c.406C>T (p.Gln136Ter)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2026β Residue 136
NM_001134363.3(RBM20):c.2521del (p.Arg841fs)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2026β Residue 841
NM_001134363.3(RBM20):c.522del (p.Ser175fs)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2025β Residue 175
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2025β Residue 663
NM_001134363.3(RBM20):c.1155_1209dup (p.Gly404delinsProGlyValAlaIleCysAlaAlaProAlaGlySerTer)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2025β Residue 404
NM_001134363.3(RBM20):c.2551-1G>ALikely pathogenic
Dilated cardiomyopathy 1DD
β
βββ2025
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter)Pathogenic
Dilated cardiomyopathy 1DD
β
βββ2025β Residue 856