Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: ACTN2 & Disease: Hypertrophic Cardiomyopathy, 64 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
43911	ACTN2	c.1484C>T	p.Thr495Met (p.T495M)	NM_001103.4 M	SNV	P	3 +	7
43911	ACTN2	c.1484C>T	p.Thr495Met (p.T495M)	NM_001278343.2	SNV	P	3 +	7
162727	ACTN2	c.355G>A	p.Ala119Thr (p.A119T)	NM_001103.4 M	SNV	P	4 +	6
162727	ACTN2	c.355G>A	p.Ala119Thr (p.A119T)	NM_001278343.2	SNV	P	4 +	6
43928	ACTN2	c.2386C>T	p.Arg796Cys (p.R796C)	NM_001103.4 M	SNV	VUS	3 +	3
178985	ACTN2	c.1040C>T	p.Thr347Met (p.T347M)	NM_001103.4 M	SNV	LB	4 +	3
810757	ACTN2	c.1748A>C	p.Glu583Ala (p.E583A)	NM_001103.4 M	SNV	LB	5 +	3
43928	ACTN2	c.2386C>T	p.Arg796Cys (p.R796C)	NM_001278343.2	SNV	VUS	3 +	3
178985	ACTN2	c.1040C>T	p.Thr347Met (p.T347M)	NM_001278343.2	SNV	LB	4 +	3
810757	ACTN2	c.1748A>C	p.Glu583Ala (p.E583A)	NM_001278343.2	SNV	LB	5 +	3
35649	ACTN2	c.2139G>A	p.Thr713= (p.T713=)	NM_001103.4 M	SNV	LB	3 +	1
619267	ACTN2	c.253C>T	p.Pro85Ser (p.P85S)	NM_001103.4 M	SNV	VUS	3 +	1
35649	ACTN2	c.2139G>A	p.Thr713= (p.T713=)	NM_001278343.2	SNV	LB	3 +	1
619267	ACTN2	c.253C>T	p.Pro85Ser (p.P85S)	NM_001278343.2	SNV	VUS	3 +	1
296492	ACTN2	c.-98CGCCGCC[4]	--	NM_001103.4 M	MS	B	1 +	0
296493	ACTN2	c.-98CGCCGCC[2]	--	NM_001103.4 M	MS	LB	1 +	0
296512	ACTN2	c.*111A>G	--	NM_001103.4 M	SNV	LB	1 +	0
296517	ACTN2	c.*447C>G	--	NM_001103.4 M	SNV	LB	1 +	0
296515	ACTN2	c.*396G>A	--	NM_001103.4 M	SNV	B	1 +	0
296516	ACTN2	c.*423A>G	--	NM_001103.4 M	SNV	LB	1 +	0

64 Results, 20 per Page

Comparison