"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LRP5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1015094	NM_002335.4(LRP5):c.557G>A (p.Arg186Gln)	LRP5 (R186Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 867078	NM_002335.4(LRP5):c.1304C>T (p.Thr435Met)	LRP5 (T435M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 488970	NM_002335.4(LRP5):c.1413-7T>A	LRP5	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3381068	NM_002335.4(LRP5):c.1537C>T (p.Gln513Ter)	LRP5 (Q513*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3380033	NM_002335.4(LRP5):c.2713G>A (p.Asp905Asn)	LRP5 (D324N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967925	NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met)	LRP5 (I1093M +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +9 more	GUncertain significance

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