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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520425	NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter)	RBM20 (W339*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1DD	GLikely pathogenic
Select item 202056	NM_001134363.3(RBM20):c.1183C>T (p.Gln395Ter)	RBM20 (Q395*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1527870	NM_001134363.3(RBM20):c.1385del (p.Ala462fs)	RBM20 (A462fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD	GLikely pathogenic
Select item 202058	NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr)	RBM20 (I536T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1065528	NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro)	RBM20 (Q598P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 411653	NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)	RBM20 (R634W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 689585	NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu)	RBM20 (R634L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 269	NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)	RBM20 (R634Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GPathogenic/Likely pathogenic
Select item 265814	NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys)	RBM20 (S635C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1S	GLikely pathogenic
Select item 270	NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)	RBM20 (R636S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 2994241	NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)	RBM20 (R636L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GPathogenic
Select item 2691235	NM_001134363.3(RBM20):c.1907_1909delinsTTG (p.Arg636_Ser637delinsLeuGly)	RBM20	Indel (missense variant)	Cardiomyopathy	GPathogenic
Select item 271	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	RBM20 (R636H)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 268	NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)	RBM20 (P638L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 202078	NM_001134363.3(RBM20):c.2501dup (p.Asp834fs)	RBM20 (D834fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 560165	NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)	RBM20 (M905K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GPathogenic/Likely pathogenic
Select item 43998	NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)	RBM20 (E913K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 2125396	NM_001134363.3(RBM20):c.2738A>T (p.Glu913Val)	RBM20 (E913V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely pathogenic
Select item 930180	NM_001134363.3(RBM20):c.3147del (p.Lys1050fs)	RBM20 (K1050fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1DD	GLikely pathogenic
Select item 3063141	GRCh37/hg19 10q25.2(chr10:112516278-112583094)x1	RBM20	Copy number loss	not specified	GLikely pathogenic
Select item 1703676	GRCh37/hg19 10q25.2(chr10:112516278-112591134)	RBM20	Copy number loss	Dilated cardiomyopathy 1DD	GPathogenic

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Items: 21