"deCODE genetics, Amgen"[submitter] AND "LDLR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3730	NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)	LDLR (C231* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 3738	NM_000527.4(LDLR):c.694+2T>C	LDLR	Single nucleotide variant (splice donor variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 251525	NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)	LDLR (D307N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251836	NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)	LDLR (A475V +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 226363	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	LDLR (A540T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251998	NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser)	LDLR (Y576S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252227	NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)	LDLR (D707V +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GLikely pathogenic

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