C0020445[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	APOB-Related Disorders +10 more	GPathogenic/Likely pathogenic
Select item 128421	NM_000384.3(APOB):c.2188G>A (p.Val730Ile)	APOB (V730I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 3741	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251393	NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)	LDLR (E228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 251909	NM_000527.5(LDLR):c.1586+5G>A	LDLR	Single nucleotide variant (intron variant)	Homozygous familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 200921	NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	LDLR (H583Y +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 200917	NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign

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