"PreventionGenetics, part of Exact Sciences"[submitter] AND "PCSK9"[ge - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265915	NM_174936.4(PCSK9):c.-8T>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign/Likely benign
Select item 265917	NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)	PCSK9 (L23del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 630623	NM_174936.4(PCSK9):c.66C>T (p.Leu22=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 375848	NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)	PCSK9 (D35Y)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 2637197	NM_174936.4(PCSK9):c.197G>C (p.Arg66Pro)	PCSK9 (R66P)	Single nucleotide variant (missense variant +2 more)	PCSK9-related disorder	GUncertain significance
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	Hypobetalipoproteinemia +4 more	GBenign
Select item 468297	NM_174936.4(PCSK9):c.290G>A (p.Arg97His)	PCSK9 (R97H)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
Select item 2044426	NM_174936.4(PCSK9):c.399+10C>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 262905	NM_174936.4(PCSK9):c.486C>G (p.Thr162=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GLikely benign
Select item 918767	NM_174936.4(PCSK9):c.494G>T (p.Arg165Leu)	PCSK9 (R165L)	Single nucleotide variant (missense variant)	PCSK9-related disorder +2 more	GUncertain significance
Select item 927823	NM_174936.4(PCSK9):c.522C>T (p.Pro174=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 36671	NM_174936.4(PCSK9):c.524-11G>A	PCSK9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 496562	NM_174936.4(PCSK9):c.525C>T (p.Asp175=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign/Likely benign
Select item 262906	NM_174936.4(PCSK9):c.657+9G>A	PCSK9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 36672	NM_174936.4(PCSK9):c.658-7C>T	PCSK9	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 265933	NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	PCSK9 (R237W +5 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +7 more	GConflicting classifications of pathogenicity
Select item 262907	NM_174936.4(PCSK9):c.753C>T (p.Arg251=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 262908	NM_174936.4(PCSK9):c.799+3A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GBenign
Select item 297698	NM_174936.4(PCSK9):c.996+8del	PCSK9	Deletion (intron variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 918636	NM_174936.4(PCSK9):c.1011G>A (p.Gly337=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 262899	NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypobetalipoproteinemia +5 more	GConflicting classifications of pathogenicity
Select item 575758	NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)	PCSK9 (R357C +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 921729	NM_174936.4(PCSK9):c.1204G>T (p.Ala402Ser)	PCSK9 (A402S +5 more)	Single nucleotide variant (missense variant)	PCSK9-related disorder +2 more	GUncertain significance
Select item 874546	NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 262900	NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)	PCSK9 (A443T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 413316	NM_174936.4(PCSK9):c.1354+9G>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 262901	NM_174936.4(PCSK9):c.1356T>G (p.Gly452=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GLikely benign
Select item 201126	NM_174936.4(PCSK9):c.1380A>G (p.Val460=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign
Select item 201128	NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)	PCSK9 (R469W +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +7 more	GConflicting classifications of pathogenicity
Select item 201124	NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)	PCSK9 (V474I +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign/Likely benign
Select item 2633256	NM_174936.4(PCSK9):c.1430G>A (p.Cys477Tyr)	PCSK9 (C352Y +6 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 523737	NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)	PCSK9 (A478T +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GConflicting classifications of pathogenicity
Select item 921735	NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu)	PCSK9 (R499L +6 more)	Single nucleotide variant (missense variant)	PCSK9-related disorder +3 more	GUncertain significance
Select item 440724	NM_174936.4(PCSK9):c.1503G>A (p.Glu501=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 36668	NM_174936.4(PCSK9):c.1504-16C>T	PCSK9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 262903	NM_174936.4(PCSK9):c.1681+17G>A	PCSK9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 627678	NM_174936.4(PCSK9):c.1878C>T (p.Cys626=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 36670	NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)	PCSK9 (G670E +8 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 630174	NM_174936.4(PCSK9):c.2028C>T (p.Ala676=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 297738	NM_174936.4(PCSK9):c.*803G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +2 more	GConflicting classifications of pathogenicity

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Items: 43