PCSK9[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431555	NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)	PCSK9 (L15fs)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 297692	NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	PCSK9 (E32K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 440706	NM_174936.4(PCSK9):c.140C>G (p.Ser47Cys)	PCSK9 (S47C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440712	NM_174936.4(PCSK9):c.248A>C (p.Lys83Thr)	PCSK9 (K83T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440715	NM_174936.4(PCSK9):c.323T>C (p.Leu108Pro)	PCSK9 (L108P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 2027927	NM_174936.4(PCSK9):c.381T>G (p.Ser127Arg)	PCSK9 (S168R +2 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GPathogenic
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 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 1015123	NM_174936.4(PCSK9):c.653G>C (p.Arg218Thr)	PCSK9 (R218T +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely pathogenic
Select item 438337	NM_174936.4(PCSK9):c.1061A>T (p.Asn354Ile)	PCSK9 (N354I +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 265939	NM_174936.4(PCSK9):c.1120G>C (p.Asp374His)	PCSK9 (D374H +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 2875	NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)	PCSK9 (D249Y +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 440720	NM_174936.4(PCSK9):c.1174G>A (p.Val392Met)	PCSK9 (V392M +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 2418130	NM_174936.4(PCSK9):c.1394C>G (p.Ser465Trp)	PCSK9 (S340W +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely pathogenic
Select item 440721	NM_174936.4(PCSK9):c.1402A>G (p.Thr468Ala)	PCSK9 (T468A +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440722	NM_174936.4(PCSK9):c.1411G>T (p.Ala471Ser)	PCSK9 (A471S +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120257	NM_174936.4(PCSK9):c.1906A>C (p.Ser636Arg)	PCSK9 (S636R +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely pathogenic
Select item 440725	NM_174936.4(PCSK9):c.2005G>C (p.Glu669Gln)	PCSK9 (E669Q +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic