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Gene: LTBP2 & Disease: WMS3, 45 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1507148	LTBP2	c.2389-2A>G	--	NM_000428.3 M	SNV	LP	4 +	3
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
1365526	LTBP2	c.804_821del	p.265PQSPPA[1]	NM_000428.3 M	Del	VUS	1 +	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
314311	LTBP2	c.1301C>T	p.Pro434Leu (p.P434L)	NM_000428.3 M	SNV	LB	7 +	2
725005	LTBP2	c.1399+10G>T	--	NM_000428.3 M	SNV	LB	6 +	2
595867	LTBP2	c.1686+3G>A	--	NM_000428.3 M	SNV	VUS	7 +	2
828006	LTBP2	c.1978C>G	p.Arg660Gly (p.R660G)	NM_000428.3 M	SNV	VUS	6 +	2
1362045	LTBP2	c.2012A>T	p.Gln671Leu (p.Q671L)	NM_000428.3 M	SNV	VUS	3 +	2
886736	LTBP2	c.2388+8C>T	--	NM_000428.3 M	SNV	LB	7 +	2
256097	LTBP2	c.2406T>C	p.Thr802= (p.T802=)	NM_000428.3 M	SNV	B	5 +	2
1174683	LTBP2	c.2502T>C	p.Thr834= (p.T834=)	NM_000428.3 M	SNV	B	1 +	2
1427437	LTBP2	c.2758G>A	p.Ala920Thr (p.A920T)	NM_000428.3 M	SNV	VUS	4 +	2
785818	LTBP2	c.3611C>T	p.Ala1204Val (p.A1204V)	NM_000428.3 M	SNV	B	6 +	2

45 Results, 20 per Page

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