C0432252[trait identifier] AND "Genomic Research Center, Shahid Behesh - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375569	NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)	LRP5 (D69Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma	GLikely pathogenic
Select item 267412	NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)	LRP5 (D381G)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma	GLikely pathogenic
Select item 375570	NM_002335.4(LRP5):c.4489-2A>G	LRP5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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