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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379843	NM_003383.5(VLDLR):c.260G>T (p.Ser87Ile)	VLDLR (S87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188669	NM_003383.5(VLDLR):c.1069A>G (p.Ile357Val)	VLDLR (I316V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 212551	NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)	VLDLR (Y378H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 130702	NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)	VLDLR (G438D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130704	NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)	VLDLR (K548R +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2620574	NM_003383.5(VLDLR):c.2029G>C (p.Glu677Gln)	VLDLR (E636Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1693993	NM_003383.5(VLDLR):c.2384G>A (p.Gly795Glu)	VLDLR (G726E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar