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Gene: EMD & Disease: EDMD, 57 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
163403	EMD	c.266-2A>G	--	NM_000117.3 M	SNV	P	3 +	7
201781	EMD	c.545_547del	p.Tyr182_Pro183delinsSer	NM_000117.3 M	Del	P	3 +	5
201783	EMD	c.215A>T	p.Asp72Val (p.D72V)	NM_000117.3 M	SNV	VUS	3 +	3
237013	EMD	c.428C>T	p.Ser143Phe (p.S143F)	NM_000117.3 M	SNV	LB	3 +	3
163404	EMD	c.598T>C	p.Trp200Arg (p.W200R)	NM_000117.3 M	SNV	LB	3 +	3
227353	EMD	c.400-9C>T	--	NM_000117.3 M	SNV	LB	3 +	2
841836	EMD	c.399+10C>T	--	NM_000117.3 M	SNV	LB	3 +	2
444835	EMD	c.400G>A	p.Val134Met (p.V134M)	NM_000117.3 M	SNV	VUS	3 +	2
840117	EMD	c.271A>G	p.Asn91Asp (p.N91D)	NM_000117.3 M	SNV	VUS	3 +	2
447314	EMD	c.537G>A	p.Leu179= (p.L179=)	NM_000117.3 M	SNV	LB	3 +	2
201773	EMD	c.449+5G>A	--	NM_000117.3 M	SNV	LB	3 +	2
201776	EMD	c.610C>T	p.Arg204Cys (p.R204C)	NM_000117.3 M	SNV	VUS	3 +	2
201777	EMD	c.671C>T	p.Pro224Leu (p.P224L)	NM_000117.3 M	SNV	LB	3 +	2
42275	EMD	c.494C>T	p.Thr165Met (p.T165M)	NM_000117.3 M	SNV	VUS	3 +	2
42276	EMD	c.495G>A	p.Thr165= (p.T165=)	NM_000117.3 M	SNV	LB	3 +	2
423352	EMD	c.355C>A	p.Gln119Lys (p.Q119K)	NM_000117.3 M	SNV	VUS	3 +	2
179659	EMD	c.77T>C	p.Val26Ala (p.V26A)	NM_000117.3 M	SNV	VUS	3 +	2
237014	EMD	c.445G>C	p.Asp149His (p.D149H)	NM_000117.3 M	SNV	LB	3 +	2
745521	EMD	c.714C>T	p.Val238= (p.V238=)	NM_000117.3 M	SNV	LB	3 +	1
755785	EMD	c.234G>A	p.Lys78= (p.K78=)	NM_000117.3 M	SNV	LB	3 +	1

57 Results, 20 per Page

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