Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: YARS1 & Disease: CMTDIC, 351 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6189	YARS1	c.586G>A	p.Glu196Lys (p.E196K)	NM_003680.4 M	SNV	P	3 +	6
6188	YARS1	c.121G>A	p.Gly41Arg (p.G41R)	NM_003680.4 M	SNV	P	2 +	5
1681512	YARS1	c.820G>A	p.Glu274Lys (p.E274K)	NM_003680.4 M	SNV	VUS	1 +	3
567612	YARS1	c.1099C>T	p.Arg367Trp (p.R367W)	NM_003680.4 M	SNV	P	2 +	3
243071	YARS1	c.586G>C	p.Glu196Gln (p.E196Q)	NM_003680.4 M	SNV	P	1 +	3
642748	YARS1	c.1100G>A	p.Arg367Gln (p.R367Q)	NM_003680.4 M	SNV	VUS	1 +	3
2418743	YARS1	c.511-3C>G	--	NM_003680.4 M	SNV	VUS	1 +	2
1681522	YARS1	c.591+3G>C	--	NM_003680.4 M	SNV	VUS	1 +	2
1681540	YARS1	c.57+4A>T	--	NM_003680.4 M	SNV	VUS	1 +	2
297149	YARS1	c.1374G>A	p.Pro458= (p.P458=)	NM_003680.4 M	SNV	LB	1 +	2
297157	YARS1	c.684+3A>G	--	NM_003680.4 M	SNV	LB	1 +	2
1026314	YARS1	c.1140+6C>T	--	NM_003680.4 M	SNV	VUS	1 +	2
662296	YARS1	c.499C>A	p.Pro167Thr (p.P167T)	NM_003680.4 M	SNV	P	2 +	2
969678	YARS1	c.380+4A>G	--	NM_003680.4 M	SNV	VUS	1 +	2
533460	YARS1	c.1042+3A>C	--	NM_003680.4 M	SNV	VUS	1 +	2
658402	YARS1	c.821-3T>C	--	NM_003680.4 M	SNV	VUS	1 +	2
1017302	YARS1	c.1042+6G>A	--	NM_003680.4 M	SNV	VUS	1 +	2
1681523	YARS1	c.587A>G	p.Glu196Gly (p.E196G)	NM_003680.4 M	SNV	VUS	1 +	2
6190	YARS1	c.458_469del	p.Val153_Val156del	NM_003680.4 M	Del	P	1 +	1
940101	YARS1	c.166A>G	p.Met56Val (p.M56V)	NM_003680.4 M	SNV	VUS	1 +	1

351 Results, 20 per Page

...