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Gene: LRP4 & Disease: CMS17, 825 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5689	LRP4	c.547+1G>A	--	NM_002334.4 M	SNV	P	3 +	5
428601	LRP4	c.316+1G>A	--	NM_002334.4 M	SNV	P	3 +	4
30410	LRP4	c.3557G>C	p.Trp1186Ser (p.W1186S)	NM_002334.4 M	SNV	P	3 +	3
2119457	LRP4	c.3699+1G>A	--	NM_002334.4 M	SNV	LP	3 +	3
706577	LRP4	c.3390G>A	p.Ala1130= (p.A1130=)	NM_002334.4 M	SNV	LB	3 +	2
1589270	LRP4	c.3267C>T	p.Asp1089= (p.D1089=)	NM_002334.4 M	SNV	LB	3 +	2
1542190	LRP4	c.4584-15T>C	--	NM_002334.4 M	SNV	LB	3 +	2
946244	LRP4	c.797-3C>T	--	NM_002334.4 M	SNV	VUS	3 +	2
1042526	LRP4	c.2917C>T	p.Arg973Trp (p.R973W)	NM_002334.4 M	SNV	VUS	3 +	2
1521778	LRP4	c.5186G>C	p.Gly1729Ala (p.G1729A)	NM_002334.4 M	SNV	VUS	3 +	2
569474	LRP4	c.4990A>G	p.Met1664Val (p.M1664V)	NM_002334.4 M	SNV	VUS	3 +	2
1661065	LRP4	c.430+15C>T	--	NM_002334.4 M	SNV	LB	3 +	2
1052819	LRP4	c.1309+6G>T	--	NM_002334.4 M	SNV	VUS	3 +	2
1145034	LRP4	c.447C>T	p.Ser149= (p.S149=)	NM_002334.4 M	SNV	LB	3 +	2
651503	LRP4	c.1048C>T	p.Arg350Trp (p.R350W)	NM_002334.4 M	SNV	VUS	3 +	2
1175793	LRP4	c.761C>T	p.Ala254Val (p.A254V)	NM_002334.4 M	SNV	VUS	3 +	2
1323250	LRP4	c.2830C>T	p.Gln944Ter (p.Q944X)	NM_002334.4 M	SNV	P	3 +	2
657674	LRP4	c.5126G>C	p.Arg1709Pro (p.R1709P)	NM_002334.4 M	SNV	VUS	3 +	2
1331494	LRP4	c.5653C>T	p.Arg1885Ter (p.R1885X)	NM_002334.4 M	SNV	VUS	3 +	2
1501503	LRP4	c.5585C>T	p.Thr1862Met (p.T1862M)	NM_002334.4 M	SNV	VUS	3 +	2

825 Results, 20 per Page

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