"Color Diagnostics, LLC DBA Color Health"[submitter] AND "PCSK9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440703	NM_174936.3(PCSK9):c.-861G>A	PCSK9	Single nucleotide variant	Hypercholesterolemia, familial, 1	GBenign
Select item 627976	NM_174936.4(PCSK9):c.-9C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Familial hypercholesterolemia	GLikely benign
Select item 265915	NM_174936.4(PCSK9):c.-8T>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
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 919978	NM_174936.4(PCSK9):c.6C>T (p.Gly2=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
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)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
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 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 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 +2 more	GConflicting classifications of pathogenicity
Select item 927682	NM_174936.4(PCSK9):c.36G>A (p.Pro12=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +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 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)	Hypercholesterolemia, autosomal dominant, 3 +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 265916	NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Hypercholesterolemia, familial, 1 +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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 265917	NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)	PCSK9 (L23del)	Microsatellite (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity
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 927084	NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro)	PCSK9 (L22P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 630623	NM_174936.4(PCSK9):c.66C>T (p.Leu22=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 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 927151	NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser)	PCSK9 (G24S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	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 1761998	NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp)	PCSK9 (G27D)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +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 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 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)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 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)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GUncertain significance
Select item 375848	NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)	PCSK9 (D35Y)	Single nucleotide variant (missense variant)	PCSK9-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1172035	NM_174936.4(PCSK9):c.105C>T (p.Asp35=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 921570	NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser)	PCSK9 (G36S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 921571	NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys)	PCSK9 (E39K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 852560	NM_174936.4(PCSK9):c.118G>A (p.Glu40Lys)	PCSK9 (E40K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 924640	NM_174936.4(PCSK9):c.123G>C (p.Leu41=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 536213	NM_174936.4(PCSK9):c.126G>T (p.Val42=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 630633	NM_174936.4(PCSK9):c.132C>T (p.Ala44=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 630138	NM_174936.4(PCSK9):c.136C>T (p.Arg46Cys)	PCSK9 (R46C)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 2774032	NM_174936.4(PCSK9):c.144GGA[1] (p.Glu49del)	PCSK9 (E49del)	Microsatellite (inframe_deletion +2 more)	Familial hypercholesterolemia	GUncertain significance
Select item 927517	NM_174936.4(PCSK9):c.142G>T (p.Glu48Ter)	PCSK9 (E48*)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia	GLikely benign
Select item 440707	NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)	PCSK9 (E48K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1775235	NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)	PCSK9 (L52P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 925547	NM_174936.4(PCSK9):c.156_158delinsAGT (p.Ala53Val)	PCSK9 (A53V)	Indel (missense variant)	Familial hypercholesterolemia	GLikely benign
Select item 921063	NM_174936.4(PCSK9):c.156G>A (p.Leu52=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 440708	NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)	PCSK9 (A53G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GBenign/Likely benign
Select item 921572	NM_174936.4(PCSK9):c.159C>T (p.Ala53=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 925334	NM_174936.4(PCSK9):c.164C>T (p.Ala55Val)	PCSK9 (A55V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 922539	NM_174936.4(PCSK9):c.165A>T (p.Ala55=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +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 924602	NM_174936.4(PCSK9):c.168C>G (p.Pro56=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
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 2774033	NM_174936.4(PCSK9):c.176G>C (p.Gly59Ala)	PCSK9 (G59A)	Single nucleotide variant (missense variant +2 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2774034	NM_174936.4(PCSK9):c.178A>G (p.Thr60Ala)	PCSK9 (T60A)	Single nucleotide variant (missense variant +2 more)	Familial hypercholesterolemia	GLikely benign
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 922888	NM_174936.4(PCSK9):c.188C>T (p.Thr63Ile)	PCSK9 (T63I)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2774035	NM_174936.4(PCSK9):c.192C>T (p.Phe64=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia	GLikely benign
Select item 923778	NM_174936.4(PCSK9):c.196C>T (p.Arg66Cys)	PCSK9 (R66C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 919153	NM_174936.4(PCSK9):c.197_198delinsAA (p.Arg66Gln)	PCSK9 (R66Q)	Indel (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 727658	NM_174936.4(PCSK9):c.198C>T (p.Arg66=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 919442	NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg)	PCSK9 (C67R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 926013	NM_174936.4(PCSK9):c.201C>T (p.Cys67=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 927183	NM_174936.4(PCSK9):c.207G>A (p.Lys69=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GUncertain significance
Select item 440709	NM_174936.4(PCSK9):c.207+5G>A	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GUncertain significance
Select item 629595	NM_174936.4(PCSK9):c.207+6G>A	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +5 more	GBenign
Select item 492243	NM_174936.4(PCSK9):c.208-16C>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 921573	NM_174936.4(PCSK9):c.208-14T>G	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 631188	NM_174936.4(PCSK9):c.208-10A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 630140	NM_174936.4(PCSK9):c.208-7G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 1332452	NM_174936.4(PCSK9):c.208-6G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 440711	NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)	PCSK9 (P71L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +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 921574	NM_174936.4(PCSK9):c.219G>T (p.Arg73Ser)	PCSK9 (R73S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
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)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 921575	NM_174936.4(PCSK9):c.234C>T (p.Tyr78=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 927122	NM_174936.4(PCSK9):c.242T>A (p.Val81Glu)	PCSK9 (V81E)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 629199	NM_174936.4(PCSK9):c.247A>G (p.Lys83Glu)	PCSK9 (K83E)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 921576	NM_174936.4(PCSK9):c.252G>A (p.Glu84=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 921577	NM_174936.4(PCSK9):c.253G>A (p.Glu85Lys)	PCSK9 (E85K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 926008	NM_174936.4(PCSK9):c.261C>T (p.His87=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 924535	NM_174936.4(PCSK9):c.261C>A (p.His87Gln)	PCSK9 (H87Q)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 630141	NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)	PCSK9 (S89W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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