PCSK9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 1344496	NC_000001.11:g.55030366T>C	PCSK9	Single nucleotide variant	Familial hypercholesterolemia	Gassociation
Select item 440703	NM_174936.3(PCSK9):c.-861G>A	PCSK9	Single nucleotide variant	Hypercholesterolemia, familial, 1	GBenign
Select item 297683	NM_174936.3(PCSK9):c.-353G>T	PCSK9	Single nucleotide variant	Familial hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297684	NM_174936.3(PCSK9):c.-346G>C	PCSK9	Single nucleotide variant	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 438331	NM_174936.3(PCSK9):c.-331C>A	PCSK9	Single nucleotide variant	not provided +3 more	GUncertain significance
Select item 2775408	NM_174936.3(PCSK9):c.-308A>G	PCSK9	Single nucleotide variant	Familial hypercholesterolemia	GUncertain significance
Select item 265911	NM_174936.4(PCSK9):c.-287G>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +2 more	GBenign/Likely benign
Select item 297685	NM_174936.4(PCSK9):c.-245G>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 265912	NM_174936.4(PCSK9):c.-245G>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 297686	NM_174936.4(PCSK9):c.-237T>G	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 297687	NM_174936.4(PCSK9):c.-221T>G	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 297688	NM_174936.4(PCSK9):c.-200C>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 297689	NM_174936.4(PCSK9):c.-185A>G	PCSK9	Single nucleotide variant (5 prime UTR variant)	Familial hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297690	NM_174936.4(PCSK9):c.-180T>G	PCSK9	Single nucleotide variant (5 prime UTR variant)	Familial hypobetalipoproteinemia +1 more	GUncertain significance
Select item 440704	NM_174936.4(PCSK9):c.-168C>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1	GBenign
Select item 876359	NM_174936.4(PCSK9):c.-140C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +1 more	GConflicting classifications of pathogenicity
Select item 265913	NM_174936.4(PCSK9):c.-73A>G	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 874402	NM_174936.4(PCSK9):c.-68C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 265914	NM_174936.4(PCSK9):c.-67C>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 36666	NM_174936.4(PCSK9):c.-64C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +2 more	GBenign
Select item 297691	NM_174936.4(PCSK9):c.-26G>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign/Likely benign
Select item 3070727	NM_174936.4(PCSK9):c.-10C>T	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 627976	NM_174936.4(PCSK9):c.-9C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Familial hypercholesterolemia	GLikely benign
Select item 3070434	NM_174936.4(PCSK9):c.-8del	PCSK9	Deletion (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 265915	NM_174936.4(PCSK9):c.-8T>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	PCSK9-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3074453	NM_174936.4(PCSK9):c.-7G>A	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074850	NM_174936.4(PCSK9):c.-4C>A	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 919992	NM_174936.4(PCSK9):c.2T>G (p.Met1Arg)	PCSK9 (M1R)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 3071061	NM_174936.4(PCSK9):c.4G>A (p.Gly2Ser)	PCSK9 (G2S)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3069450	NM_174936.4(PCSK9):c.5G>A (p.Gly2Asp)	PCSK9 (G2D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 919978	NM_174936.4(PCSK9):c.6C>T (p.Gly2=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 3070392	NM_174936.4(PCSK9):c.8C>T (p.Thr3Ile)	PCSK9 (T3I)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 1468175	NM_174936.4(PCSK9):c.8C>A (p.Thr3Asn)	PCSK9 (T3N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 630657	NM_174936.4(PCSK9):c.9C>T (p.Thr3=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 920919	NM_174936.4(PCSK9):c.10G>C (p.Val4Leu)	PCSK9 (V4L)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
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 2870398	NM_174936.4(PCSK9):c.12C>T (p.Val4=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 926307	NM_174936.4(PCSK9):c.17C>T (p.Ser6Phe)	PCSK9 (S6F)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 1653201	NM_174936.4(PCSK9):c.21G>A (p.Arg7=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 628031	NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp)	PCSK9 (R8W)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 2905809	NM_174936.4(PCSK9):c.23G>A (p.Arg8Gln)	PCSK9 (R8Q)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
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 696661	NM_174936.4(PCSK9):c.27C>G (p.Ser9=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +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 927406	NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu)	PCSK9 (P12L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GConflicting classifications of pathogenicity
Select item 927682	NM_174936.4(PCSK9):c.36G>A (p.Pro12=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 922622	NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser)	PCSK9 (P14S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 3074025	NM_174936.4(PCSK9):c.42_43insATGCTG (p.Pro14_Leu15insMetLeu)	PCSK9	Insertion (inframe_insertion +2 more)	Hypercholesterolemia, autosomal dominant, 3	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 924119	NM_174936.4(PCSK9):c.42_44del (p.Leu23del)	PCSK9 (L23del)	Deletion (inframe_deletion)	Familial hypercholesterolemia	GLikely benign
Select item 922063	NM_174936.4(PCSK9):c.42_50del (p.Leu21_Leu23del)	PCSK9	Deletion (inframe_deletion)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 662731	NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
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 431555	NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)	PCSK9 (L15fs)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 924740	NM_174936.4(PCSK9):c.45GCT[4] (p.Leu21_Leu23del)	PCSK9	Microsatellite (inframe_deletion)	Familial hypercholesterolemia	GUncertain significance
Select item 628057	NM_174936.4(PCSK9):c.45_46insGTG (p.Leu15_Leu16insVal)	PCSK9	Insertion (inframe_insertion)	Familial hypercholesterolemia	GUncertain significance
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 1683793	NM_174936.4(PCSK9):c.52_53insCGC (p.Leu17_Leu18insPro)	PCSK9	Insertion (inframe_insertion)	not provided	GLikely benign
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 3075481	NM_174936.4(PCSK9):c.53T>G (p.Leu18Arg)	PCSK9 (L18R)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2774030	NM_174936.4(PCSK9):c.61_69dup (p.Leu23_Gly24insLeuLeuLeu)	PCSK9	Duplication (inframe_insertion +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	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 2031915	NM_174936.4(PCSK9):c.65_66insGCTCCT (p.Leu23_Gly24insLeuLeu)	PCSK9	Insertion (inframe_indel +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2498272	NM_174936.4(PCSK9):c.65_66insGCC (p.Leu22_Leu23insPro)	PCSK9	Insertion (inframe_insertion +2 more)	Familial hypercholesterolemia	GUncertain significance
Select item 927084	NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro)	PCSK9 (L22P)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
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 2774031	NM_174936.4(PCSK9):c.67_92del (p.Leu23fs)	PCSK9 (L23fs)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 3071132	NM_174936.4(PCSK9):c.70G>T (p.Gly24Cys)	PCSK9 (G24C)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
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 3075405	NM_174936.4(PCSK9):c.75del (p.Ala26fs)	PCSK9 (A26fs)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2726559	NM_174936.4(PCSK9):c.75C>T (p.Pro25=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
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 920118	NM_174936.4(PCSK9):c.80G>C (p.Gly27Ala)	PCSK9 (G27A)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 920368	NM_174936.4(PCSK9):c.81C>T (p.Gly27=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 3071855	NM_174936.4(PCSK9):c.82G>A (p.Ala28Thr)	PCSK9 (A28T)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 496566	NM_174936.4(PCSK9):c.85del (p.Arg29fs)	PCSK9 (R29fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1171705	NM_174936.4(PCSK9):c.84C>T (p.Ala28=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 920809	NM_174936.4(PCSK9):c.85C>T (p.Arg29Cys)	PCSK9 (R29C)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 874403	NM_174936.4(PCSK9):c.85C>G (p.Arg29Gly)	PCSK9 (R29G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2079911	NM_174936.4(PCSK9):c.86G>A (p.Arg29His)	PCSK9 (R29H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075524	NM_174936.4(PCSK9):c.89_92dup (p.Gln31fs)	PCSK9 (Q31fs)	Duplication (frameshift variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 925777	NM_174936.4(PCSK9):c.89C>A (p.Ala30Glu)	PCSK9 (A30E)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 918647	NM_174936.4(PCSK9):c.90G>A (p.Ala30=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 698635	NM_174936.4(PCSK9):c.95AGGACG[3] (p.32ED[3])	PCSK9	Microsatellite (inframe_insertion)	Familial hypercholesterolemia +1 more	GLikely benign
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 3074343	NM_174936.4(PCSK9):c.96G>C (p.Glu32Asp)	PCSK9 (E32D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 1107385	NM_174936.4(PCSK9):c.96G>A (p.Glu32=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 927338	NM_174936.4(PCSK9):c.97G>A (p.Asp33Asn)	PCSK9 (D33N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 536202	NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)	PCSK9 (E34K)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +4 more	GUncertain significance

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