C0745103[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2875	NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)	PCSK9 (D249Y +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GPathogenic/Likely pathogenic
Select item 251105	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR (D90N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226320	NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)	LDLR (E113* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 526759	NM_000527.5(LDLR):c.345C>G (p.Arg115=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +3 more	GBenign/Likely benign
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1758997	NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)	LDLR (D288fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic

ClinVar