"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PCSK9"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 512

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438331	NM_174936.4(PCSK9):c.-331C>A	PCSK9	Single nucleotide variant	not specified +4 more	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)	Cardiovascular phenotype +2 more	GLikely benign
Select item 492230	NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)	PCSK9 (V4I)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +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 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)	Hypercholesterolemia, autosomal dominant, 3 +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 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 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)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 265916	NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	not specified +5 more	GBenign/Likely benign
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 specified +4 more	GConflicting classifications of pathogenicity
Select item 1749764	NM_174936.4(PCSK9):c.57G>C (p.Leu19=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +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 630623	NM_174936.4(PCSK9):c.66C>T (p.Leu22=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	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 2079911	NM_174936.4(PCSK9):c.86G>A (p.Arg29His)	PCSK9 (R29H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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)	not provided +4 more	GPathogenic/Likely pathogenic
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)	not provided +5 more	GUncertain significance
Select item 2764217	NM_174936.4(PCSK9):c.106_111dup (p.Asp37_Tyr38insGlyAsp)	PCSK9	Duplication (inframe_insertion +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
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 1172035	NM_174936.4(PCSK9):c.105C>T (p.Asp35=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +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 +2 more	GUncertain significance
Select item 2758749	NM_174936.4(PCSK9):c.113A>G (p.Tyr38Cys)	PCSK9 (Y38C)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2201494	NM_174936.4(PCSK9):c.114C>T (p.Tyr38=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
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 2865769	NM_174936.4(PCSK9):c.120G>A (p.Glu40=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2561479	NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)	PCSK9 (L41Q)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
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 2029860	NM_174936.4(PCSK9):c.135G>A (p.Leu45=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GBenign/Likely benign
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 440707	NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)	PCSK9 (E48K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 1139726	NM_174936.4(PCSK9):c.147G>A (p.Glu49=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3009257	NM_174936.4(PCSK9):c.150C>T (p.Asp50=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 3016201	NM_174936.4(PCSK9):c.154C>T (p.Leu52=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 1571900	NM_174936.4(PCSK9):c.156G>T (p.Leu52=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 1119136	NM_174936.4(PCSK9):c.156G>C (p.Leu52=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
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	GConflicting classifications of pathogenicity
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)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 405335	NM_174936.4(PCSK9):c.175G>A (p.Gly59Arg)	PCSK9 (G59R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 265918	NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp)	PCSK9 (A62D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 2694737	NM_174936.4(PCSK9):c.187A>G (p.Thr63Ala)	PCSK9 (T63A)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2048752	NM_174936.4(PCSK9):c.189del (p.Phe64fs)	PCSK9 (F64fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2780955	NM_174936.4(PCSK9):c.195C>T (p.His65=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2844345	NM_174936.4(PCSK9):c.196C>A (p.Arg66Ser)	PCSK9 (R66S)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	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)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 1346319	NM_174936.4(PCSK9):c.203C>T (p.Ala68Val)	PCSK9 (A68V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 1055084	NM_174936.4(PCSK9):c.207+6G>C	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2155628	NM_174936.4(PCSK9):c.207+9G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2196565	NM_174936.4(PCSK9):c.207+14_207+15delinsAG	PCSK9	Indel (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2829837	NM_174936.4(PCSK9):c.207+15A>T	PCSK9	Single nucleotide variant (5 prime UTR variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 468292	NC_000001.11:g.(?_55043823)_(55044054_?)del	PCSK9	Deletion	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 492243	NM_174936.4(PCSK9):c.208-16C>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 1532678	NM_174936.4(PCSK9):c.208-13T>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
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)	Familial hypercholesterolemia +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)	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 1932303	NM_174936.4(PCSK9):c.237G>A (p.Val79=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 972465	NM_174936.4(PCSK9):c.238del (p.Val80fs)	PCSK9 (V80fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 700261	NM_174936.4(PCSK9):c.246G>A (p.Leu82=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 630141	NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)	PCSK9 (S89W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
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 +4 more	GBenign/Likely benign
Select item 413319	NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	PCSK9 (R93C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2143104	NM_174936.4(PCSK9):c.285C>T (p.Ala95=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 848359	NM_174936.4(PCSK9):c.287G>A (p.Arg96His)	PCSK9 (R96H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 927833	NM_174936.4(PCSK9):c.289C>T (p.Arg97Cys)	PCSK9 (R97C)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 468297	NM_174936.4(PCSK9):c.290G>A (p.Arg97His)	PCSK9 (R97H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 925286	NM_174936.4(PCSK9):c.298G>A (p.Ala100Thr)	PCSK9 (A100T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2811468	NM_174936.4(PCSK9):c.309C>T (p.Ala103=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
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)	Hypercholesterolemia, familial, 1 +4 more	GUncertain significance
Select item 2718206	NM_174936.4(PCSK9):c.315G>A (p.Arg105=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 1324866	NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg)	PCSK9 (G106R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GConflicting classifications of pathogenicity
Select item 582851	NM_174936.4(PCSK9):c.317G>T (p.Gly106Val)	PCSK9 (G106V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 375849	NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)	PCSK9 (L108R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 924709	NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg)	PCSK9 (L112R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 413317	NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign

<< First< Prev

Page of 6