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Gene: MATN3 & Disease: EDM5, 68 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7541	MATN3	c.361C>T	p.Arg121Trp (p.R121W)	NM_002381.5 M	SNV	P	2 +	8
65664	MATN3	c.359C>T	p.Thr120Met (p.T120M)	NM_002381.5 M	SNV	P	3 +	5
65664	MATN3	c.[359C>T]	--	NM_002381.5 M	SNV	P	3 +	5
7540	MATN3	c.581T>A	p.Val194Asp (p.V194D)	NM_002381.5 M	SNV	P	2 +	4
7545	MATN3	c.209G>A	p.Arg70His (p.R70H)	NM_002381.5 M	SNV	P	2 +	3
7543	MATN3	c.656C>A	p.Ala219Asp (p.A219D)	NM_002381.5 M	SNV	P	2 +	2
7546	MATN3	c.382G>C	p.Ala128Pro (p.A128P)	NM_002381.5 M	SNV	P	1 +	2
7542	MATN3	c.908C>T	p.Thr303Met (p.T303M)	NM_002381.5 M	SNV	P	2 +	2
1683458	MATN3	c.368C>T	p.Ala123Val (p.A123V)	NM_002381.5 M	SNV	LP	1 +	1
258648	MATN3	c.754G>A	p.Glu252Lys (p.E252K)	NM_002381.5 M	SNV	B	2 +	1
896818	MATN3	c.477C>G	p.Gly159= (p.G159=)	NM_002381.5 M	SNV	VUS	1 +	1
898414	MATN3	c.733G>A	p.Val245Met (p.V245M)	NM_002381.5 M	SNV	LB	1 +	1
801652	MATN3	c.659T>C	p.Val220Ala (p.V220A)	NM_002381.5 M	SNV	VUS	2 +	1
198148	MATN3	c.1169-10G>A	--	NM_002381.5 M	SNV	B	2 +	0
631839	MATN3	c.541C>T	p.Arg181Ter (p.R181X)	NM_002381.5 M	SNV	VUS	1 +	0
560181	MATN3	c.224-2153_1168+903dup	--	NM_002381.5 M	Dup	LP	1 +	0
1228375	MATN3	c.477C>T	p.Gly159= (p.G159=)	NM_002381.5 M	SNV	VUS	1 +	0
258649	MATN3	c.909G>A	p.Thr303= (p.T303=)	NM_002381.5 M	SNV	B	1 +	0
258647	MATN3	c.1406-4C>T	--	NM_002381.5 M	SNV	LB	4 +	0
195169	MATN3	c.447C>T	p.Ala149= (p.A149=)	NM_002381.5 M	SNV	B	1 +	0

68 Results, 20 per Page

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