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Mutation Direct

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Gene: LRP5 & Disease: EVR1, 515 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6276	LRP5	c.1999G>A	p.Val667Met (p.V667M)	NM_002335.4 M	SNV	P	11 +	20
6276	LRP5	c.256G>A	p.Val86Met (p.V86M)	NM_001291902.2	SNV	P	11 +	20
929300	LRP5	c.1412+1G>A	--	NM_002335.4 M	SNV	P	1 +	5
6274	LRP5	c.1481G>A	p.Arg494Gln (p.R494Q)	NM_002335.4 M	SNV	P	9 +	5
929300	LRP5	c.-354+1G>A	--	NM_001291902.2	SNV	P	1 +	5
6274	LRP5	c.-354+3237G>A	--	NM_001291902.2	SNV	P	9 +	5
287187	LRP5	c.2737dup	p.Cys913fs (p.C913fs)	NM_002335.4 M	Dup	P	9 +	3
1369175	LRP5	c.3637+4C>T	--	NM_002335.4 M	SNV	VUS	9 +	3
520692	LRP5	c.1199C>T	p.Ala400Val (p.A400V)	NM_002335.4 M	SNV	VUS	9 +	3
193641	LRP5	c.2193C>T	p.Asn731= (p.N731=)	NM_002335.4 M	SNV	LB	10 +	3
998850	LRP5	c.3280G>A	p.Glu1094Lys (p.E1094K)	NM_002335.4 M	SNV	VUS	9 +	3
287187	LRP5	c.994dup	p.Cys332fs (p.C332fs)	NM_001291902.2	Dup	P	9 +	3
1369175	LRP5	c.1894+4C>T	--	NM_001291902.2	SNV	VUS	9 +	3
520692	LRP5	c.-567C>T	--	NM_001291902.2	SNV	VUS	9 +	3
193641	LRP5	c.450C>T	p.Asn150= (p.N150=)	NM_001291902.2	SNV	LB	10 +	3
998850	LRP5	c.1537G>A	p.Glu513Lys (p.E513K)	NM_001291902.2	SNV	VUS	9 +	3
1441794	LRP5	c.3237-16C>A	--	NM_002335.4 M	SNV	VUS	9 +	2
1024039	LRP5	c.4066G>A	p.Asp1356Asn (p.D1356N)	NM_002335.4 M	SNV	VUS	9 +	2
1507482	LRP5	c.4199T>C	p.Met1400Thr (p.M1400T)	NM_002335.4 M	SNV	VUS	9 +	2
1097926	LRP5	c.686+13G>A	--	NM_002335.4 M	SNV	LB	9 +	2

515 Results, 20 per Page

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