"Ambry Genetics"[submitter] AND "PCSK9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 492230	NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)	PCSK9 (V4I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1564848	NM_174936.4(PCSK9):c.27C>T (p.Ser9=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 922275	NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr)	PCSK9 (P12T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 2496752	NM_174936.4(PCSK9):c.42A>G (p.Pro14=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 597379	NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 265916	NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 627764	NM_174936.4(PCSK9):c.45GCT[5] (p.Leu22_Leu23del)	PCSK9	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 265917	NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)	PCSK9 (L23del)	Microsatellite (inframe_deletion)	PCSK9-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1746696	NM_174936.4(PCSK9):c.52C>T (p.Leu18=)	PCSK9	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1749764	NM_174936.4(PCSK9):c.57G>C (p.Leu19=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 630623	NM_174936.4(PCSK9):c.66C>T (p.Leu22=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 927151	NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser)	PCSK9 (G24S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 440705	NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr)	PCSK9 (A26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 923225	NM_174936.4(PCSK9):c.77C>T (p.Ala26Val)	PCSK9 (A26V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 1761130	NM_174936.4(PCSK9):c.78G>A (p.Ala26=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1761998	NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp)	PCSK9 (G27D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 297692	NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	PCSK9 (E32K)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 536202	NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)	PCSK9 (E34K)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +4 more	GUncertain significance
Select item 375848	NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)	PCSK9 (D35Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2454165	NM_174936.4(PCSK9):c.107G>A (p.Gly36Asp)	PCSK9 (G36D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2454164	NM_174936.4(PCSK9):c.108C>G (p.Gly36=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1788746	NM_174936.4(PCSK9):c.108C>A (p.Gly36=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1797190	NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)	PCSK9 (D37E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2561479	NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)	PCSK9 (L41Q)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 536213	NM_174936.4(PCSK9):c.126G>T (p.Val42=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GLikely benign
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 1771530	NM_174936.4(PCSK9):c.138T>G (p.Arg46=)	PCSK9	Single nucleotide variant (non-coding transcript variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2454168	NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)	PCSK9 (E49D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1774405	NM_174936.4(PCSK9):c.151G>T (p.Gly51Cys)	PCSK9 (G51C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1775235	NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)	PCSK9 (L52P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 440708	NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)	PCSK9 (A53G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 922539	NM_174936.4(PCSK9):c.165A>T (p.Ala55=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 630139	NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser)	PCSK9 (P56S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 548104	NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)	PCSK9 (E57K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1779368	NM_174936.4(PCSK9):c.174C>T (p.His58=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1780553	NM_174936.4(PCSK9):c.180C>T (p.Thr60=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 265918	NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp)	PCSK9 (A62D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1551504	NM_174936.4(PCSK9):c.186C>T (p.Ala62=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 923778	NM_174936.4(PCSK9):c.196C>T (p.Arg66Cys)	PCSK9 (R66C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2454163	NM_174936.4(PCSK9):c.197G>A (p.Arg66His)	PCSK9 (R66H)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1785343	NM_174936.4(PCSK9):c.206A>T (p.Lys69Met)	PCSK9 (K69M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 440711	NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)	PCSK9 (P71L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 630640	NM_174936.4(PCSK9):c.213G>A (p.Pro71=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 468296	NM_174936.4(PCSK9):c.225T>C (p.Pro75=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GBenign/Likely benign
Select item 633348	NM_174936.4(PCSK9):c.228C>T (p.Gly76=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1789412	NM_174936.4(PCSK9):c.230C>T (p.Thr77Ile)	PCSK9 (T118I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 921575	NM_174936.4(PCSK9):c.234C>T (p.Tyr78=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 1790140	NM_174936.4(PCSK9):c.235G>A (p.Val79Met)	PCSK9 (V120M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1793351	NM_174936.4(PCSK9):c.257C>G (p.Thr86Ser)	PCSK9 (T127S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 630141	NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)	PCSK9 (S89W)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 375842	NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu)	PCSK9 (S89L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 627675	NM_174936.4(PCSK9):c.267G>A (p.Ser89=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 518317	NM_174936.4(PCSK9):c.276G>A (p.Glu92=)	PCSK9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 925285	NM_174936.4(PCSK9):c.278G>A (p.Arg93His)	PCSK9 (R93H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 440714	NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)	PCSK9 (R96C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 468297	NM_174936.4(PCSK9):c.290G>A (p.Arg97His)	PCSK9 (R97H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GLikely benign
Select item 1798386	NM_174936.4(PCSK9):c.297G>A (p.Gln99=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 928288	NM_174936.4(PCSK9):c.299C>G (p.Ala100Gly)	PCSK9 (A100G)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 918766	NM_174936.4(PCSK9):c.310C>T (p.Arg104Cys)	PCSK9 (R104C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 548107	NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln)	PCSK9 (R105Q)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GUncertain significance
Select item 582851	NM_174936.4(PCSK9):c.317G>T (p.Gly106Val)	PCSK9 (G106V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GUncertain significance
Select item 375849	NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)	PCSK9 (L108R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1729714	NM_174936.4(PCSK9):c.327C>T (p.Thr109=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 413317	NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 630143	NM_174936.4(PCSK9):c.341T>C (p.Val114Ala)	PCSK9 (V114A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 630144	NM_174936.4(PCSK9):c.384C>T (p.Gly128=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 375844	NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)	PCSK9 (D129N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 2454167	NM_174936.4(PCSK9):c.392T>C (p.Leu131Pro)	PCSK9 (L172P +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1736338	NM_174936.4(PCSK9):c.393G>A (p.Leu131=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 297694	NM_174936.4(PCSK9):c.399+4A>G	PCSK9	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 924430	NM_174936.4(PCSK9):c.404T>C (p.Leu135Ser)	PCSK9 (L135S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 1171982	NM_174936.4(PCSK9):c.405G>A (p.Leu135=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 630145	NM_174936.4(PCSK9):c.420C>T (p.Val140=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 700313	NM_174936.4(PCSK9):c.429C>T (p.Ile143=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +3 more	GBenign/Likely benign
Select item 2151070	NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)	PCSK9 (D21N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2454166	NM_174936.4(PCSK9):c.452C>T (p.Ala151Val)	PCSK9 (A192V +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1137302	NM_174936.4(PCSK9):c.453C>T (p.Ala151=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 920790	NM_174936.4(PCSK9):c.456G>A (p.Gln152=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 926969	NM_174936.4(PCSK9):c.465G>A (p.Pro155=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 839590	NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp)	PCSK9 (R160W)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 633347	NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln)	PCSK9 (R160Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 548110	NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp)	PCSK9 (R165W)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 548111	NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln)	PCSK9 (R165Q)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 496560	NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)	PCSK9 (R167W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 918178	NM_174936.4(PCSK9):c.500G>A (p.Arg167Gln)	PCSK9 (R167Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 926970	NM_174936.4(PCSK9):c.503C>T (p.Ala168Val)	PCSK9 (A168V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 926971	NM_174936.4(PCSK9):c.504G>A (p.Ala168=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1745791	NM_174936.4(PCSK9):c.516G>A (p.Gln172=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 496561	NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser)	PCSK9 (P174S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 2568394	NM_174936.4(PCSK9):c.522C>G (p.Pro174=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 927823	NM_174936.4(PCSK9):c.522C>T (p.Pro174=)	PCSK9	Single nucleotide variant (synonymous variant)	PCSK9-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1746317	NM_174936.4(PCSK9):c.524-5G>A	PCSK9	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 496562	NM_174936.4(PCSK9):c.525C>T (p.Asp175=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	PCSK9-related condition +5 more	GBenign/Likely benign
Select item 923947	NM_174936.4(PCSK9):c.526G>A (p.Gly176Arg)	PCSK9 (G176R +4 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 2447537	NM_174936.4(PCSK9):c.556G>C (p.Asp186His)	PCSK9 (D122H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2568387	NM_174936.4(PCSK9):c.557A>G (p.Asp186Gly)	PCSK9 (D167G +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance

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