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Gene: MYF6 & Disease: CNM1, 39 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1060278	MYF6	c.520-3C>T	--	NM_002469.3 M	SNV	VUS	1 +	2
435911	MYF6	c.528T>C	p.Gly176= (p.G176=)	NM_002469.3 M	SNV	LB	1 +	2
566144	MYF6	c.559T>A	p.Trp187Arg (p.W187R)	NM_002469.3 M	SNV	LB	1 +	1
1414913	MYF6	c.273dup	p.Thr92fs (p.T92fs)	NM_002469.3 M	Dup	VUS	1 +	1
578567	MYF6	c.587G>A	p.Gly196Glu (p.G196E)	NM_002469.3 M	SNV	VUS	1 +	1
1034631	MYF6	c.193C>T	p.Pro65Ser (p.P65S)	NM_002469.3 M	SNV	VUS	1 +	1
1011466	MYF6	c.623T>C	p.Ile208Thr (p.I208T)	NM_002469.3 M	SNV	VUS	1 +	1
1038226	MYF6	c.511C>G	p.Gln171Glu (p.Q171E)	NM_002469.3 M	SNV	VUS	1 +	1
1434904	MYF6	c.91T>C	p.Ser31Pro (p.S31P)	NM_002469.3 M	SNV	VUS	1 +	1
658350	MYF6	c.79G>A	p.Val27Met (p.V27M)	NM_002469.3 M	SNV	LB	1 +	1
472751	MYF6	c.184G>A	p.Val62Ile (p.V62I)	NM_002469.3 M	SNV	VUS	1 +	1
853679	MYF6	c.220C>T	p.Pro74Ser (p.P74S)	NM_002469.3 M	SNV	VUS	1 +	1
472752	MYF6	c.269C>A	p.Ala90Asp (p.A90D)	NM_002469.3 M	SNV	LB	1 +	1
472753	MYF6	c.331G>C	p.Glu111Gln (p.E111Q)	NM_002469.3 M	SNV	VUS	1 +	1
472754	MYF6	c.347T>C	p.Leu116Pro (p.L116P)	NM_002469.3 M	SNV	LB	1 +	1
472755	MYF6	c.352C>A	p.Arg118= (p.R118=)	NM_002469.3 M	SNV	B	1 +	1
758194	MYF6	c.294C>T	p.Ala98= (p.A98=)	NM_002469.3 M	SNV	LB	1 +	1
472757	MYF6	c.544A>C	p.Thr182Pro (p.T182P)	NM_002469.3 M	SNV	LB	1 +	1
472758	MYF6	c.575A>C	p.Asp192Ala (p.D192A)	NM_002469.3 M	SNV	VUS	1 +	1
472756	MYF6	c.46G>A	p.Asp16Asn (p.D16N)	NM_002469.3 M	SNV	VUS	1 +	1

39 Results, 20 per Page

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