Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: HUWE1 & Disease: X-Linked Intellectual Disability, Turner Type, 140 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
379239	HUWE1	c.328C>T	p.Arg110Trp (p.R110W)	NM_031407.7 M	SNV	P	3 +	3
10678	HUWE1	c.12559C>T	p.Arg4187Cys (p.R4187C)	NM_031407.7 M	SNV	P	4 +	3
375725	HUWE1	c.12928G>C	p.Gly4310Arg (p.G4310R)	NM_031407.7 M	SNV	P	3 +	3
129253	HUWE1	c.2109A>G	p.Ser703= (p.S703=)	NM_031407.7 M	SNV	LB	3 +	2
129256	HUWE1	c.99A>G	p.Gln33= (p.Q33=)	NM_031407.7 M	SNV	LB	3 +	2
129254	HUWE1	c.5716+5G>A	--	NM_031407.7 M	SNV	LB	3 +	2
129255	HUWE1	c.6031-4T>A	--	NM_031407.7 M	SNV	LB	3 +	2
10677	HUWE1	c.8942G>A	p.Arg2981His (p.R2981H)	NM_031407.7 M	SNV	P	3 +	2
10676	HUWE1	c.12037C>T	p.Arg4013Trp (p.R4013W)	NM_031407.7 M	SNV	P	3 +	2
1805084	HUWE1	c.7598G>A	p.Gly2533Asp (p.G2533D)	NM_031407.7 M	SNV	VUS	3 +	2
1805148	HUWE1	c.11501A>G	p.Glu3834Gly (p.E3834G)	NM_031407.7 M	SNV	VUS	3 +	2
1805171	HUWE1	c.120G>C	p.Gln40His (p.Q40H)	NM_031407.7 M	SNV	VUS	3 +	2
1805179	HUWE1	c.11591T>C	p.Leu3864Pro (p.L3864P)	NM_031407.7 M	SNV	VUS	3 +	2
375709	HUWE1	c.329G>A	p.Arg110Gln (p.R110Q)	NM_031407.7 M	SNV	P	3 +	2
375718	HUWE1	c.12067C>T	p.Arg4023Cys (p.R4023C)	NM_031407.7 M	SNV	P	3 +	2
1211318	HUWE1	c.6030+20G>A	--	NM_031407.7 M	SNV	LB	3 +	2
129249	HUWE1	c.10551G>T	p.Leu3517= (p.L3517=)	NM_031407.7 M	SNV	LB	3 +	2
1805457	HUWE1	c.5915T>G	p.Met1972Arg (p.M1972R)	NM_031407.7 M	SNV	VUS	3 +	2
1197326	HUWE1	c.963+18T>C	--	NM_031407.7 M	SNV	LB	3 +	2
1805726	HUWE1	c.1826G>T	p.Ser609Ile (p.S609I)	NM_031407.7 M	SNV	VUS	3 +	2

140 Results, 20 per Page

Comparison