"OMIM"[submitter] AND "PCSK9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GBenign/Likely benign
Select item 2880	NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del)	PCSK9 (R97del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2873	NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg)	PCSK9	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GPathogenic/Likely pathogenic
Select item 2876	NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)	PCSK9 (Y142*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2874	NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu)	PCSK9 (F257L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GPathogenic
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 2877	NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)	PCSK9 (C679* +8 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity

ClinVar