RBM20[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 20

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11633321.	NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter) GRCh37: Chr10:112540827 GRCh38: Chr10:110781069	RBM20	Q154*	not provided	Likely pathogenic (Aug 18, 2020)	criteria provided, single submitter
Select item 5204252.	NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter) GRCh37: Chr10:112541383 GRCh38: Chr10:110781625	RBM20	W339*	Dilated cardiomyopathy 1DD	Likely pathogenic (Feb 20, 2018)	criteria provided, single submitter
Select item 2020563.	NM_001134363.3(RBM20):c.1183C>T (p.Gln395Ter) GRCh37: Chr10:112541550 GRCh38: Chr10:110781792	RBM20	Q395*	not provided	Pathogenic (Jul 9, 2013)	criteria provided, single submitter
Select item 15278704.	NM_001134363.3(RBM20):c.1385del (p.Ala462fs) GRCh37: Chr10:112544146 GRCh38: Chr10:110784388	RBM20	A462fs	Dilated cardiomyopathy 1DD	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 2020585.	NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) GRCh37: Chr10:112557345 GRCh38: Chr10:110797587	RBM20	I536T	not provided	Likely pathogenic (Apr 10, 2014)	criteria provided, single submitter
Select item 10655286.	NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro) GRCh37: Chr10:112559669 GRCh38: Chr10:110799911	RBM20	Q598P	Primary dilated cardiomyopathy	Likely pathogenic (Nov 8, 2020)	no assertion criteria provided
Select item 4116537.	NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) GRCh37: Chr10:112572055 GRCh38: Chr10:110812297	RBM20	R634W	Dilated cardiomyopathy 1DD, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6895858.	NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) GRCh37: Chr10:112572056 GRCh38: Chr10:110812298	RBM20	R634L	Cardiovascular phenotype	Likely pathogenic (Feb 27, 2018)	criteria provided, single submitter
Select item 2699.	NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) GRCh37: Chr10:112572056 GRCh38: Chr10:110812298	RBM20	R634Q	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1DD	Pathogenic/Likely pathogenic (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26581410.	NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) GRCh37: Chr10:112572059 GRCh38: Chr10:110812301	RBM20	S635C	Dilated cardiomyopathy 1S	Likely pathogenic (May 1, 2016)	no assertion criteria provided
Select item 27011.	NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) GRCh37: Chr10:112572061 GRCh38: Chr10:110812303	RBM20	R636S	not provided, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD	Pathogenic/Likely pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 27112.	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) GRCh37: Chr10:112572062 GRCh38: Chr10:110812304	RBM20	R636H	Cardiovascular phenotype, Primary familial dilated cardiomyopathy, not provided, Cardiomyopathy, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20206313.	NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) GRCh37: Chr10:112572068 GRCh38: Chr10:110812310	RBM20	P638R	not provided, Dilated cardiomyopathy 1DD	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26814.	NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) GRCh37: Chr10:112572068 GRCh38: Chr10:110812310	RBM20	P638L	Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1A, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20207815.	NM_001134363.3(RBM20):c.2501dup (p.Asp834fs) GRCh37: Chr10:112572655-112572656 GRCh38: Chr10:110812897-110812898	RBM20	D834fs	not provided	Likely pathogenic (Nov 1, 2013)	criteria provided, single submitter
Select item 56016516.	NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) GRCh37: Chr10:112581091 GRCh38: Chr10:110821333	RBM20	M905K	Dilated cardiomyopathy 1DD	Pathogenic/Likely pathogenic (Aug 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 4399817.	NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) GRCh37: Chr10:112581114 GRCh38: Chr10:110821356	RBM20	E913K	Cardiovascular phenotype, not provided, Cardiomyopathy, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD, Left ventricular noncompaction cardiomyopathy	Pathogenic/Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212539618.	NM_001134363.3(RBM20):c.2738A>T (p.Glu913Val) GRCh37: Chr10:112581115 GRCh38: Chr10:110821357	RBM20	E913V	Dilated cardiomyopathy 1DD	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 93018019.	NM_001134363.3(RBM20):c.3147del (p.Lys1050fs) GRCh37: Chr10:112581524 GRCh38: Chr10:110821766	RBM20	K1050fs	Dilated cardiomyopathy 1DD	Likely pathogenic (Dec 13, 2019)	criteria provided, single submitter
Select item 170367620.	GRCh37/hg19 10q25.2(chr10:112516278-112591134) GRCh37: Chr10:112516278-112591134	RBM20		Dilated cardiomyopathy 1DD	Pathogenic	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20