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Gene: LAMC2 & Disease: JEB3B, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14555	LAMC2	c.283C>T	p.Arg95Ter (p.R95X)	NM_005562.3 M	SNV	P	2 +	9
14555	LAMC2	c.283C>T	p.Arg95Ter (p.R95X)	NM_018891.3	SNV	P	2 +	9
14557	LAMC2	c.1659C>A	p.Cys553Ter (p.C553X)	NM_005562.3 M	SNV	P	1 +	3
1067977	LAMC2	c.640+1G>A	--	NM_005562.3 M	SNV	LP	3 +	3
14557	LAMC2	c.1659C>A	p.Cys553Ter (p.C553X)	NM_018891.3	SNV	P	1 +	3
1067977	LAMC2	c.640+1G>A	--	NM_018891.3	SNV	LP	3 +	3
14554	LAMC2	c.1067-1G>A	--	NM_005562.3 M	SNV	P	2 +	2
14556	LAMC2	c.1065C>G	p.Tyr355Ter (p.Y355X)	NM_005562.3 M	SNV	P	2 +	2
14554	LAMC2	c.1067-1G>A	--	NM_018891.3	SNV	P	2 +	2
14556	LAMC2	c.1065C>G	p.Tyr355Ter (p.Y355X)	NM_018891.3	SNV	P	2 +	2
14558	LAMC2	c.2137_2143del	p.Gln713fs (p.Q713fs)	NM_005562.3 M	Del	P	1 +	1
14558	LAMC2	c.2137_2143del	p.Gln713fs (p.Q713fs)	NM_018891.3	Del	P	1 +	1
1687040	LAMC2	c.1335_1342dup	p.Gly448fs (p.G448fs)	NM_005562.3 M	Dup	P	1 +	0
874261	LAMC2	c.2777G>A	p.Arg926His (p.R926H)	NM_005562.3 M	SNV	VUS	4 +	0
1687040	LAMC2	c.1335_1342dup	p.Gly448fs (p.G448fs)	NM_018891.3	Dup	P	1 +	0
874261	LAMC2	c.2777G>A	p.Arg926His (p.R926H)	NM_018891.3	SNV	VUS	4 +	0

16 Results, 20 per Page

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