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Mutation Direct

Effortless mutation search and display tool

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Gene: GNS & Disease: MPS3D, 553 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2932	GNS	c.1063C>T	p.Arg355Ter (p.R355X)	NM_002076.4 M	SNV	P	1 +	3
2934	GNS	c.1168C>T	p.Gln390Ter (p.Q390X)	NM_002076.4 M	SNV	P	1 +	3
2506276	GNS	c.1098+1G>A	--	NM_002076.4 M	SNV	P	1 +	3
966660	GNS	c.876-3C>T	--	NM_002076.4 M	SNV	VUS	2 +	2
1075633	GNS	c.1414C>T	p.Gln472Ter (p.Q472X)	NM_002076.4 M	SNV	P	1 +	2
1479117	GNS	c.1200+2T>A	--	NM_002076.4 M	SNV	LP	1 +	2
842217	GNS	c.1308+2T>C	--	NM_002076.4 M	SNV	LP	2 +	2
258550	GNS	c.1598G>A	p.Arg533His (p.R533H)	NM_002076.4 M	SNV	LB	2 +	2
1024560	GNS	c.1581-1G>A	--	NM_002076.4 M	SNV	VUS	1 +	2
193221	GNS	c.4C>T	p.Arg2Trp (p.R2W)	NM_002076.4 M	SNV	LB	2 +	2
1166126	GNS	c.792+16A>G	--	NM_002076.4 M	SNV	LB	1 +	2
1440594	GNS	c.525G>A	p.Leu175= (p.L175=)	NM_002076.4 M	SNV	VUS	1 +	2
1299282	GNS	c.875+2del	--	NM_002076.4 M	Del	P	1 +	2
1452923	GNS	c.875+1G>A	--	NM_002076.4 M	SNV	P	1 +	2
598985	GNS	c.1594C>G	p.Pro532Ala (p.P532A)	NM_002076.4 M	SNV	VUS	4 +	2
1410005	GNS	c.415A>G	p.Met139Val (p.M139V)	NM_002076.4 M	SNV	VUS	1 +	2
2102240	GNS	c.1200+1G>T	--	NM_002076.4 M	SNV	LP	1 +	2
1465334	GNS	c.252+1G>T	--	NM_002076.4 M	SNV	LP	1 +	2
2018370	GNS	c.792+1G>A	--	NM_002076.4 M	SNV	LP	1 +	2
836831	GNS	c.791C>T	p.Thr264Met (p.T264M)	NM_002076.4 M	SNV	VUS	2 +	2

553 Results, 20 per Page

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