C1866176[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705512	NM_002335.4(LRP5):c.424_436del (p.Arg142fs)	LRP5 (R142fs)	Deletion (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 2572422	NM_002335.4(LRP5):c.440G>A (p.Trp147Ter)	LRP5 (W147*)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 2572377	NM_002335.4(LRP5):c.853C>T (p.Gln285Ter)	LRP5 (Q285*)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 1526384	NM_002335.4(LRP5):c.1385G>A (p.Arg462Gln)	LRP5 (R462Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1705431	NM_002335.4(LRP5):c.1589T>C (p.Ile530Thr)	LRP5 (I530T)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4	GUncertain significance
Select item 1491932	NM_002335.4(LRP5):c.2431A>G (p.Ile811Val)	LRP5 (I811V +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +8 more	GUncertain significance
Select item 1687478	NM_002335.4(LRP5):c.4397del (p.Gly1466fs)	LRP5 (G1466fs +1 more)	Deletion (frameshift variant)	Exudative vitreoretinopathy 4	GLikely pathogenic
Select item 498449	NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)	LRP5 (C1548F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar