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Gene: LYZ & Disease: AMYL8, 53 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14376	LYZ	c.244T>C	p.Trp82Arg (p.W82R)	NM_000239.3 M	SNV	P	1 +	6
14375	LYZ	c.199G>C	p.Asp67His (p.D67H)	NM_000239.3 M	SNV	P	1 +	4
14378	LYZ	c.244T>A	p.Trp82Arg (p.W82R)	NM_000239.3 M	SNV	P	1 +	4
1338132	LYZ	c.175C>T	p.Arg59Ter (p.R59X)	NM_000239.3 M	SNV	VUS	1 +	2
14374	LYZ	c.221T>C	p.Ile74Thr (p.I74T)	NM_000239.3 M	SNV	P	1 +	2
722403	LYZ	c.434G>A	p.Gly145Asp (p.G145D)	NM_000239.3 M	SNV	LB	1 +	2
14377	LYZ	c.223T>A	p.Phe75Ile (p.F75I)	NM_000239.3 M	SNV	P	1 +	1
310330	LYZ	c.156G>A	p.Trp52Ter (p.W52X)	NM_000239.3 M	SNV	LB	1 +	1
310332	LYZ	c.269G>A	p.Gly90Glu (p.G90E)	NM_000239.3 M	SNV	VUS	1 +	1
882898	LYZ	c.10C>G	p.Leu4Val (p.L4V)	NM_000239.3 M	SNV	B	1 +	1
1337976	LYZ	c.209C>G	p.Thr70Ser (p.T70S)	NM_000239.3 M	SNV	VUS	1 +	1
882949	LYZ	c.*544C>T	--	NM_000239.3 M	SNV	VUS	1 +	0
882950	LYZ	c.*565G>A	--	NM_000239.3 M	SNV	VUS	1 +	0
881799	LYZ	c.*413G>T	--	NM_000239.3 M	SNV	B	1 +	0
881800	LYZ	c.*426C>T	--	NM_000239.3 M	SNV	VUS	1 +	0
882951	LYZ	c.*608T>C	--	NM_000239.3 M	SNV	VUS	1 +	0
631690	LYZ	c.86del	p.Thr29fs (p.T29fs)	NM_000239.3 M	Del	VUS	1 +	0
881798	LYZ	c.*404G>T	--	NM_000239.3 M	SNV	VUS	1 +	0
883743	LYZ	c.*771A>G	--	NM_000239.3 M	SNV	VUS	1 +	0
883744	LYZ	c.*866C>T	--	NM_000239.3 M	SNV	VUS	1 +	0

53 Results, 20 per Page

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