ClinVar for MedGen (Select 9364) - ClinVar

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Items: 31

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18038151.	NM_000041.4(APOE):c.31A>G (p.Thr11Ala) GRCh37: Chr19:45409912 GRCh38: Chr19:44906655	APOE	T11A, T37A	Familial type 3 hyperlipoproteinemia, Lipoprotein glomerulopathy	Uncertain significance (Apr 9, 2021)	criteria provided, single submitter
Select item 17648102.	NM_000041.4(APOE):c.882G>T (p.Trp294Cys) GRCh37: Chr19:45412435 GRCh38: Chr19:44909178	APOE	W294C, W320C	Cardiovascular phenotype, Familial type 3 hyperlipoproteinemia	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13415753.	NM_000041.4(APOE):c.548G>C (p.Gly183Ala) GRCh37: Chr19:45412101 GRCh38: Chr19:44908844	APOE	G183A, G209A	Familial type 3 hyperlipoproteinemia	Likely pathogenic (Feb 15, 2022)	criteria provided, single submitter
Select item 13158064.	NM_000041.4(APOE):c.688G>A (p.Glu230Lys) GRCh37: Chr19:45412241 GRCh38: Chr19:44908984	APOE	E230K, E256K	not provided, Lipoprotein glomerulopathy, Alzheimer disease 4, Alzheimer disease 3, Alzheimer disease 2, Age related macular degeneration 1, Lipoprotein glomerulopathy, Sea-blue histiocyte syndrome, Familial type 3 hyperlipoproteinemia	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12100345.	NM_000041.4(APOE):c.69G>A (p.Ala23=) GRCh37: Chr19:45411042 GRCh38: Chr19:44907785	APOE		Cardiovascular phenotype, Alzheimer disease 3, Alzheimer disease 2, Alzheimer disease 4, Lipoprotein glomerulopathy, Age related macular degeneration 1, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome	Likely benign (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9729036.	NM_000527.5(LDLR):c.2312-2A>G GRCh37: Chr19:11238682 GRCh38: Chr19:11128006	LDLR		Familial type 3 hyperlipoproteinemia	Pathogenic (Jun 7, 2020)	criteria provided, single submitter
Select item 9729027.	NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) GRCh37: Chr19:11221395-11221396 GRCh38: Chr19:11110719-11110720	LDLR	C211, C170, C338, C297	Familial hypercholesterolemia, Familial type 3 hyperlipoproteinemia	Pathogenic (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9178518.	NM_000041.4(APOE):c.422A>G (p.Gln141Arg) GRCh37: Chr19:45411975 GRCh38: Chr19:44908718	APOE	Q141R, Q167R	Hyperlipoproteinemia, Familial hypercholesterolemia, Familial type 3 hyperlipoproteinemia	Uncertain significance (May 27, 2020)	no assertion criteria provided
Select item 7792869.	NM_000041.4(APOE):c.651C>T (p.Ala217=) GRCh37: Chr19:45412204 GRCh38: Chr19:44908947	APOE		Cardiovascular phenotype, Lipoprotein glomerulopathy, Alzheimer disease 4, Alzheimer disease 3, Alzheimer disease 2, Sea-blue histiocyte syndrome, Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1, not provided	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76003010.	NM_000041.4(APOE):c.249C>T (p.Asp83=) GRCh37: Chr19:45411802 GRCh38: Chr19:44908545	APOE		Cardiovascular phenotype, not provided, Alzheimer disease 3, Alzheimer disease 4, Alzheimer disease 2, Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1, Sea-blue histiocyte syndrome, Lipoprotein glomerulopathy	Likely benign (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69458511.	NM_000041.4:c.[388=;460C>A526=] GRCh37: Chr19:45412013 Chr19:45412079 Chr19:45411941 GRCh38: Chr19:44908756 Chr19:44908822 Chr19:44908684	APOE, APOE, APOE	R154S, R180S	Alzheimer disease 3, protection against, due to APOE3-Christchurch	protective (Nov 25, 2019)	no assertion criteria provided
Select item 66679612.	NM_000041.2:c.[388T>C];[526C>T]			not specified	Uncertain significance (Jan 18, 2019)	criteria provided, single submitter
Select item 48734613.	NM_000041.4(APOE):c.478C>T (p.Arg160Cys) GRCh37: Chr19:45412031 GRCh38: Chr19:44908774	APOE	R160C, R186C	Familial type 3 hyperlipoproteinemia	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 47890414.	NM_000041.4(APOE):c.434G>A (p.Gly145Asp) GRCh37: Chr19:45411987 GRCh38: Chr19:44908730	APOE	G145D, G171D	Hypercholesterolemia, Lipoprotein glomerulopathy, Alzheimer disease 3, Alzheimer disease 2, Alzheimer disease 4, Sea-blue histiocyte syndrome, Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47888415.	NM_000041.4(APOE):c.805C>G (p.Arg269Gly) GRCh37: Chr19:45412358 GRCh38: Chr19:44909101	APOE	R269G, R295G	not provided, Familial type 3 hyperlipoproteinemia, Cardiovascular phenotype, Lipoprotein glomerulopathy, Alzheimer disease 3, Alzheimer disease 2, Alzheimer disease 4, Sea-blue histiocyte syndrome, Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1	Uncertain significance (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 44126716.	NM_000041.3(APOE):c.[388T>C;805C>G] GRCh37: Chr19:45411941 Chr19:45412358 GRCh38: Chr19:44908684 Chr19:44909101	APOE, APOE	C130R, C156R, R269G, R295G	Familial type 3 hyperlipoproteinemia	Pathogenic (May 1, 1993)	no assertion criteria provided
Select item 44126617.	NM_000041.3(APOE):c.[526C>T;761T>A] GRCh37: Chr19:45412079 Chr19:45412314 GRCh38: Chr19:44908822 Chr19:44909057	APOE, APOE	R176C, R202C, V254E, V280E	Familial type 3 hyperlipoproteinemia	Pathogenic (May 1, 1993)	no assertion criteria provided
Select item 44126518.	NM_000041.3(APOE):c.[526C>T;725G>A] GRCh37: Chr19:45412079 Chr19:45412278 GRCh38: Chr19:44908822 Chr19:44909021	APOE, APOE	R176C, R202C, R268Q	Familial type 3 hyperlipoproteinemia	Pathogenic (Feb 21, 2017)	no assertion criteria provided
Select item 44126419.	NM_000041.3(APOE):c.[487C>T;91G>A] GRCh37: Chr19:45412040 Chr19:45411064 GRCh38: Chr19:44908783 Chr19:44907807	APOE, APOE	R163C, R189C, E31K, E57K	Familial type 3 hyperlipoproteinemia	Pathogenic (Nov 1, 1992)	no assertion criteria provided
Select item 44126220.	NM_000041.3(APOE):c.[434G>A;526C>T] GRCh37: Chr19:45412079 Chr19:45411987 GRCh38: Chr19:44908822 Chr19:44908730	APOE, APOE	R176C, R202C, G145D, G171D	Hyperlipoproteinemia due to APOE1	Pathogenic (Apr 1, 1984)	no assertion criteria provided
Select item 44087021.	NM_000041.3(APOE):c.[388T>C;478C>T] GRCh37: Chr19:45411941 Chr19:45412031 GRCh38: Chr19:44908684 Chr19:44908774	APOE, APOE	C130R, C156R, R160C, R186C	Familial type 3 hyperlipoproteinemia	Pathogenic (Feb 14, 2017)	no assertion criteria provided
Select item 1788022.	NM_000041.4(APOE):c.127C>T (p.Arg43Cys) GRCh37: Chr19:45411100 GRCh38: Chr19:44907843	APOE	R43C, R69C	Lipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome, Lipoprotein glomerulopathy, Age related macular degeneration 1, Alzheimer disease 2, Alzheimer disease 4, Alzheimer disease 3	Pathogenic/Likely pathogenic (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1786523.	NM_000041.4(APOE):c.488G>A (p.Arg163His) GRCh37: Chr19:45412041 GRCh38: Chr19:44908784	APOE	R163H, R189H	Lipoprotein glomerulopathy	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 1786224.	NM_000041.4(APOE):c.683G>A (p.Trp228Ter) GRCh37: Chr19:45412236 GRCh38: Chr19:44908979	APOE	W228, W254	Familial type 3 hyperlipoproteinemia, HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)	Pathogenic (Nov 1, 1992)	no assertion criteria provided
Select item 1786125.	NM_000041.4(APOE):c.146del (p.Gly49fs) GRCh37: Chr19:45411117 GRCh38: Chr19:44907860	APOE	G49fs, G75fs	Familial type 3 hyperlipoproteinemia	Pathogenic (Sep 1, 1992)	no assertion criteria provided
Select item 1785726.	NM_000041.4(APOE):c.490A>G (p.Lys164Glu) GRCh37: Chr19:45412043 GRCh38: Chr19:44908786	APOE	K164E, K190E	Familial type 3 hyperlipoproteinemia	Pathogenic (Aug 1, 1995)	no assertion criteria provided
Select item 1785327.	NM_000041.4(APOE):c.415_435dup (p.Glu139_Gly145dup) GRCh37: Chr19:45411963-45411964 GRCh38: Chr19:44908706-44908707	APOE		Familial type 3 hyperlipoproteinemia	Pathogenic (Apr 1, 2004)	no assertion criteria provided
Select item 1785228.	NM_000041.4(APOE):c.237-2A>G GRCh37: Chr19:45411788 GRCh38: Chr19:44908531	APOE		Familial type 3 hyperlipoproteinemia	Pathogenic (Feb 15, 1987)	no assertion criteria provided
Select item 1785129.	NM_000041.4(APOE):c.487C>T (p.Arg163Cys) GRCh37: Chr19:45412040 GRCh38: Chr19:44908783	APOE	R163C, R189C	Cardiovascular phenotype, not specified, not provided	Conflicting interpretations of pathogenicity (Feb 15, 2021)	criteria provided, conflicting interpretations
Select item 1785030.	NM_000041.4(APOE):c.460C>A (p.Arg154Ser) GRCh37: Chr19:45412013 GRCh38: Chr19:44908756	APOE	R154S, R180S	Familial type 3 hyperlipoproteinemia	Likely pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 1784831.	NM_000041.2(APOE):c.526C>T (p.Arg176Cys) GRCh37: Chr19:45412079 GRCh38: Chr19:44908822	APOE	R176C, R202C	atorvastatin response - Efficacy	drug response (Mar 24, 2021)	reviewed by expert panel

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Items: 31