"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437991	NM_002335.4(LRP5):c.1265C>T (p.Ala422Val)	LRP5 (A422V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 437992	NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg)	LRP5 (L1081R +1 more)	Single nucleotide variant (missense variant)	Familial exudative vitreoretinopathy	GLikely pathogenic
Select item 6287	NM_002335.4(LRP5):c.4488+2T>G	LRP5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic

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ClinVar