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Gene: MYL3 & Disease: CMH8, 62 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
31780	MYL3	c.170C>G	p.Ala57Gly (p.A57G)	NM_000258.3 M	SNV	P	2 +	30
43121	MYL3	c.170C>A	p.Ala57Asp (p.A57D)	NM_000258.3 M	SNV	LP	4 +	20
14063	MYL3	c.427G>A	p.Glu143Lys (p.E143K)	NM_000258.3 M	SNV	P	3 +	18
14062	MYL3	c.461G>A	p.Arg154His (p.R154H)	NM_000258.3 M	SNV	P	3 +	14
31778	MYL3	c.466G>A	p.Val156Met (p.V156M)	NM_000258.3 M	SNV	LP	3 +	11
36648	MYL3	c.530A>G	p.Glu177Gly (p.E177G)	NM_000258.3 M	SNV	VUS	3 +	10
14061	MYL3	c.445A>G	p.Met149Val (p.M149V)	NM_000258.3 M	SNV	P	2 +	8
43123	MYL3	c.446T>C	p.Met149Thr (p.M149T)	NM_000258.3 M	SNV	LP	2 +	7
177841	MYL3	c.466G>T	p.Val156Leu (p.V156L)	NM_000258.3 M	SNV	P	3 +	7
31779	MYL3	c.517A>G	p.Met173Val (p.M173V)	NM_000258.3 M	SNV	VUS	2 +	7
31777	MYL3	c.281G>A	p.Arg94His (p.R94H)	NM_000258.3 M	SNV	P	3 +	6
161329	MYL3	c.235G>A	p.Val79Ile (p.V79I)	NM_000258.3 M	SNV	LP	3 +	5
639935	MYL3	c.170C>T	p.Ala57Val (p.A57V)	NM_000258.3 M	SNV	VUS	2 +	2
345570	MYL3	c.219C>T	p.Tyr73= (p.Y73=)	NM_000258.3 M	SNV	LB	2 +	2
181441	MYL3	c.220G>A	p.Gly74Arg (p.G74R)	NM_000258.3 M	SNV	LB	2 +	2
1011968	MYL3	c.308-3C>T	--	NM_000258.3 M	SNV	VUS	2 +	2
1402380	MYL3	c.158-2A>G	--	NM_000258.3 M	SNV	VUS	2 +	1
1517630	MYL3	c.157+1G>A	--	NM_000258.3 M	SNV	P	2 +	1
1172131	MYL3	c.557A>C	p.Glu186Ala (p.E186A)	NM_000258.3 M	SNV	VUS	1 +	1
1402380	MYL3	c.158-2A>G	--	NM_001406939.1	SNV	VUS	2 +	1

62 Results, 20 per Page

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