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Gene: LTBP2 & Disease: GLC3D, 231 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7554	LTBP2	c.895C>T	p.Arg299Ter (p.R299X)	NM_000428.3 M	SNV	P	2 +	5
888083	LTBP2	c.1612C>T	p.Arg538Trp (p.R538W)	NM_000428.3 M	SNV	VUS	4 +	3
1507148	LTBP2	c.2389-2A>G	--	NM_000428.3 M	SNV	LP	4 +	3
256098	LTBP2	c.2788+13C>T	--	NM_000428.3 M	SNV	B	4 +	2
1307743	LTBP2	c.1487G>A	p.Gly496Asp (p.G496D)	NM_000428.3 M	SNV	VUS	4 +	2
487467	LTBP2	c.220G>C	p.Glu74Gln (p.E74Q)	NM_000428.3 M	SNV	VUS	6 +	2
885925	LTBP2	c.587A>G	p.Gln196Arg (p.Q196R)	NM_000428.3 M	SNV	VUS	7 +	2
1354646	LTBP2	c.654C>T	p.Cys218= (p.C218=)	NM_000428.3 M	SNV	LB	4 +	2
731625	LTBP2	c.785C>T	p.Pro262Leu (p.P262L)	NM_000428.3 M	SNV	B	4 +	2
314315	LTBP2	c.818C>T	p.Ser273Leu (p.S273L)	NM_000428.3 M	SNV	LB	5 +	2
487460	LTBP2	c.804_821dup	p.265_270PQSPPA[3]	NM_000428.3 M	Dup	LB	3 +	2
1510194	LTBP2	c.950C>T	p.Pro317Leu (p.P317L)	NM_000428.3 M	SNV	VUS	4 +	2
256101	LTBP2	c.956C>A	p.Pro319Gln (p.P319Q)	NM_000428.3 M	SNV	B	4 +	2
314311	LTBP2	c.1301C>T	p.Pro434Leu (p.P434L)	NM_000428.3 M	SNV	LB	7 +	2
256096	LTBP2	c.1287G>A	p.Leu429= (p.L429=)	NM_000428.3 M	SNV	B	4 +	2
725005	LTBP2	c.1399+10G>T	--	NM_000428.3 M	SNV	LB	6 +	2
126951	LTBP2	c.1553G>T	p.Ser518Ile (p.S518I)	NM_000428.3 M	SNV	LB	5 +	2
595867	LTBP2	c.1686+3G>A	--	NM_000428.3 M	SNV	VUS	7 +	2
314305	LTBP2	c.1796C>T	p.Pro599Leu (p.P599L)	NM_000428.3 M	SNV	LB	5 +	2
828006	LTBP2	c.1978C>G	p.Arg660Gly (p.R660G)	NM_000428.3 M	SNV	VUS	6 +	2

231 Results, 20 per Page

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