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Gene: RBM20 & Disease: DCM, 46 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
268	RBM20	c.1913C>T	p.Pro638Leu (p.P638L)	NM_001134363.3 M	SNV	P	5 +	16
43998	RBM20	c.2737G>A	p.Glu913Lys (p.E913K)	NM_001134363.3 M	SNV	P	2 +	15
270	RBM20	c.1906C>A	p.Arg636Ser (p.R636S)	NM_001134363.3 M	SNV	P	2 +	14
271	RBM20	c.1907G>A	p.Arg636His (p.R636H)	NM_001134363.3 M	SNV	P	3 +	11
43986	RBM20	c.2147G>A	p.Arg716Gln (p.R716Q)	NM_001134363.3 M	SNV	LB	2 +	8
165048	RBM20	c.3115C>T	p.Pro1039Ser (p.P1039S)	NM_001134363.3 M	SNV	LB	3 +	7
180484	RBM20	c.3545G>A	p.Arg1182His (p.R1182H)	NM_001134363.3 M	SNV	LP	2 +	4
43995	RBM20	c.2662G>A	p.Asp888Asn (p.D888N)	NM_001134363.3 M	SNV	LB	4 +	4
538028	RBM20	c.2176C>T	p.Arg726Ter (p.R726X)	NM_001134363.3 M	SNV	P	2 +	4
689585	RBM20	c.1901G>T	p.Arg634Leu (p.R634L)	NM_001134363.3 M	SNV	P	1 +	3
43974	RBM20	c.150A>T	p.Pro50= (p.P50=)	NM_001134363.3 M	SNV	LB	2 +	3
43975	RBM20	c.1527+8C>T	--	NM_001134363.3 M	SNV	B	2 +	3
43982	RBM20	c.1973C>G	p.Ser658Cys (p.S658C)	NM_001134363.3 M	SNV	LB	3 +	3
44016	RBM20	c.3667G>C	p.Glu1223Gln (p.E1223Q)	NM_001134363.3 M	SNV	B	2 +	3
44029	RBM20	c.90G>A	p.Arg30= (p.R30=)	NM_001134363.3 M	SNV	B	2 +	3
179284	RBM20	c.3261_3262delinsG	p.Ser1087fs (p.S1087fs)	NM_001134363.3 M	Indel	LP	1 +	3
1065186	RBM20	c.2893G>A	p.Gly965Arg (p.G965R)	NM_001134363.3 M	SNV	VUS	2 +	2
180481	RBM20	c.2393C>T	p.Pro798Leu (p.P798L)	NM_001134363.3 M	SNV	LB	2 +	2
1065529	RBM20	c.580A>G	p.Met194Val (p.M194V)	NM_001134363.3 M	SNV	VUS	2 +	2
418455	RBM20	c.3616G>A	p.Glu1206Lys (p.E1206K)	NM_001134363.3 M	SNV	LB	3 +	2

46 Results, 20 per Page

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