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Gene: LRP5 & Disease: Polycystic Liver Disease, 27 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
204504	LRP5	c.34CTG[6]	p.Leu18_Leu20del	NM_002335.4 M	MS	LB	4 +	4
	LRP5	c.52_60del	--	NM_002335.4 M	MS	LB	4 +	4
	LRP5	c.-1732CTG[6]	--	NM_001291902.2	MS	LB	4 +	4
936391	LRP5	c.4580C>T	p.Pro1527Leu (p.P1527L)	NM_002335.4 M	SNV	VUS	11 +	2
936391	LRP5	c.2837C>T	p.Pro946Leu (p.P946L)	NM_001291902.2	SNV	VUS	11 +	2
1057185	LRP5	c.4402G>A	p.Gly1468Ser (p.G1468S)	NM_002335.4 M	SNV	LB	2 +	1
951120	LRP5	c.4268C>T	p.Pro1423Leu (p.P1423L)	NM_002335.4 M	SNV	LP	11 +	1
1255566	LRP5	c.1948A>G	p.Thr650Ala (p.T650A)	NM_002335.4 M	SNV	LB	2 +	1
1255570	LRP5	c.4096G>A	p.Asp1366Asn (p.D1366N)	NM_002335.4 M	SNV	VUS	2 +	1
1255573	LRP5	c.3916G>T	p.Ala1306Ser (p.A1306S)	NM_002335.4 M	SNV	LB	2 +	1
497791	LRP5	c.4225C>T	p.Arg1409Cys (p.R1409C)	NM_002335.4 M	SNV	VUS	2 +	1
858315	LRP5	c.2724C>G	p.His908Gln (p.H908Q)	NM_002335.4 M	SNV	LB	2 +	1
1057185	LRP5	c.2659G>A	p.Gly887Ser (p.G887S)	NM_001291902.2	SNV	LB	2 +	1
951120	LRP5	c.2525C>T	p.Pro842Leu (p.P842L)	NM_001291902.2	SNV	LP	11 +	1
1255566	LRP5	c.205A>G	p.Thr69Ala (p.T69A)	NM_001291902.2	SNV	LB	2 +	1
1255570	LRP5	c.2353G>A	p.Asp785Asn (p.D785N)	NM_001291902.2	SNV	VUS	2 +	1
1255573	LRP5	c.2173G>T	p.Ala725Ser (p.A725S)	NM_001291902.2	SNV	LB	2 +	1
497791	LRP5	c.2482C>T	p.Arg828Cys (p.R828C)	NM_001291902.2	SNV	VUS	2 +	1
858315	LRP5	c.981C>G	p.His327Gln (p.H327Q)	NM_001291902.2	SNV	LB	2 +	1
1255567	LRP5	c.441G>T	p.Trp147Cys (p.W147C)	NM_002335.4 M	SNV	VUS	2 +	0

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