Related gene-specific medical variations for Gene (Select 255738) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682041	NM_174936.4(PCSK9):c.889C>T (p.Leu297Phe)	PCSK9 (L172F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682040	NM_174936.4(PCSK9):c.311G>T (p.Arg104Leu)	PCSK9 (R104L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2682039	NM_174936.4(PCSK9):c.261C>G (p.His87Gln)	PCSK9 (H128Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1344496	NC_000001.11:g.55030366T>C	PCSK9	Single nucleotide variant	Familial hypercholesterolemia	Gassociation
Select item 1319803	NM_174936.4(PCSK9):c.1054G>T (p.Gly352Trp)	PCSK9 (G352W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 686840	GRCh37/hg19 1p32.3(chr1:55491601-55509469)x1	PCSK9	Copy number loss	not provided	GUncertain significance

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