ApoE[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6199511.	NC_000019.9:g.45408836T>G GRCh37: Chr19:45408836 GRCh38: Chr19:44905579	APOE		Warfarin response	drug response (Aug 31, 2010)	no assertion criteria provided
Select item 178772.	NM_000041.2(APOE):c.-286T= GRCh37: Chr19:45408836 GRCh38: Chr19:44905579	APOE		Coronary artery disease, severe, susceptibility to	risk factor (Jun 1, 2003)	no assertion criteria provided
Select item 11750673.	NM_000041.4(APOE):c.-24+69C>G GRCh37: Chr19:45409167 GRCh38: Chr19:44905910	APOE	N14K	not specified	Benign	no assertion criteria provided
Select item 17223234.	NM_000041.4(APOE):c.-24+82G>A GRCh37: Chr19:45409180 GRCh38: Chr19:44905923	APOE	D19N	Alzheimer disease 2	Uncertain significance (Sep 2, 2020)	criteria provided, single submitter
Select item 13297185.	NM_000041.4(APOE):c.-23-280C>T GRCh37: Chr19:45409579 GRCh38: Chr19:44906322	APOE		not provided	Likely benign (Jun 21, 2021)	criteria provided, single submitter
Select item 17892756.	NM_000041.4(APOE):c.22T>C (p.Leu8_Leu9=) GRCh37: Chr19:45409903 GRCh38: Chr19:44906646	APOE		Cardiovascular phenotype	Likely benign (May 4, 2020)	criteria provided, single submitter
Select item 18038157.	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 12649418.	NM_000041.4(APOE):c.43+78G>A GRCh37: Chr19:45410002 GRCh38: Chr19:44906745	APOE		not provided	Benign (Aug 30, 2018)	criteria provided, single submitter
Select item 6199529.	NM_000041.4(APOE):c.43+520G>A GRCh37: Chr19:45410444 GRCh38: Chr19:44907187	APOE		Warfarin response	drug response (Aug 31, 2010)	no assertion criteria provided
Select item 1784910.	NM_000041.4(APOE):c.61G>A (p.Glu21Lys) GRCh37: Chr19:45411034 GRCh38: Chr19:44907777	APOE	E21K, E47K	HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5	Pathogenic (Aug 1, 1995)	no assertion criteria provided
Select item 121003411.	NM_000041.4(APOE):c.69G>A (p.Ala23=) GRCh37: Chr19:45411042 GRCh38: Chr19:44907785	APOE		Cardiovascular phenotype, Sea-blue histiocyte syndrome, Age related macular degeneration 1, Lipoprotein glomerulopathy, Alzheimer disease 4, Familial type 3 hyperlipoproteinemia, Alzheimer disease 3, Alzheimer disease 2	Likely benign (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120998712.	NM_000041.4(APOE):c.90C>G (p.Pro30=) GRCh37: Chr19:45411063 GRCh38: Chr19:44907806	APOE		Cardiovascular phenotype	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 44084213.	NM_000041.4(APOE):c.91G>A (p.Glu31Lys) GRCh37: Chr19:45411064 GRCh38: Chr19:44907807	APOE	E31K, E57K	not provided	Likely benign (May 24, 2019)	criteria provided, single submitter
Select item 132861914.	NM_000041.4(APOE):c.108C>G (p.Thr36=) GRCh37: Chr19:45411081 GRCh38: Chr19:44907824	APOE		not provided	Likely benign (Jun 15, 2021)	criteria provided, single submitter
Select item 132087115.	NM_000041.4(APOE):c.114G>A (p.Trp38Ter) GRCh37: Chr19:45411087 GRCh38: Chr19:44907830	APOE	W38, W64	not provided	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 129877216.	NM_000041.4(APOE):c.120C>T (p.Ser40=) GRCh37: Chr19:45411093 GRCh38: Chr19:44907836	APOE		Cardiovascular phenotype, not provided	Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176263517.	NM_000041.4(APOE):c.125A>C (p.Gln42Pro) GRCh37: Chr19:45411098 GRCh38: Chr19:44907841	APOE	Q42P, Q68P	Cardiovascular phenotype	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 1788018.	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, Alzheimer disease 4, Alzheimer disease 2, Alzheimer disease 3, Age related macular degeneration 1, Lipoprotein glomerulopathy	Likely pathogenic (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24276519.	NM_000041.4(APOE):c.137T>C (p.Leu46Pro) GRCh37: Chr19:45411110 GRCh38: Chr19:44907853	APOE	L46P, L72P	Alzheimer disease 4, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 177151320.	NM_000041.4(APOE):c.138G>A (p.Leu46_Ala47=) GRCh37: Chr19:45411111 GRCh38: Chr19:44907854	APOE		Cardiovascular phenotype	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 1786121.	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 45140622.	NM_000041.4(APOE):c.148C>A (p.Arg50Ser) GRCh37: Chr19:45411121 GRCh38: Chr19:44907864	APOE	R50S, R76S	not provided	Uncertain significance (Aug 15, 2017)	criteria provided, single submitter
Select item 132033423.	NM_000041.4(APOE):c.167G>A (p.Arg56His) GRCh37: Chr19:45411140 GRCh38: Chr19:44907883	APOE	R56H, R82H	Cardiovascular phenotype, not provided	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1787124.	NM_000041.4(APOE):c.178A>G (p.Thr60Ala) GRCh37: Chr19:45411151 GRCh38: Chr19:44907894	APOE	T60A, T86A	APOE3(-)-FREIBURG	Pathogenic (Aug 5, 2016)	no assertion criteria provided
Select item 178605625.	NM_000041.4(APOE):c.210C>T (p.Leu70_Ser71=) GRCh37: Chr19:45411183 GRCh38: Chr19:44907926	APOE		Cardiovascular phenotype	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 178673226.	NM_000041.4(APOE):c.214T>G (p.Ser72Ala) GRCh37: Chr19:45411187 GRCh38: Chr19:44907930	APOE	S98A, S72A	Cardiovascular phenotype	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 121006727.	NM_000041.4(APOE):c.237-16_237-13del GRCh37: Chr19:45411771-45411774 GRCh38: Chr19:44908514-44908517	APOE		not provided	Likely benign (Dec 21, 2021)	criteria provided, single submitter
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 76003029.	NM_000041.4(APOE):c.249C>T (p.Asp83=) GRCh37: Chr19:45411802 GRCh38: Chr19:44908545	APOE		Age related macular degeneration 1, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome, Lipoprotein glomerulopathy, Alzheimer disease 4, Alzheimer disease 3, Alzheimer disease 2, Cardiovascular phenotype, not provided	Likely benign (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179612030.	NM_000041.4(APOE):c.279A>G (p.Lys93_Ser94=) GRCh37: Chr19:45411832 GRCh38: Chr19:44908575	APOE		Cardiovascular phenotype	Likely benign (Sep 22, 2019)	criteria provided, single submitter
Select item 179642231.	NM_000041.4(APOE):c.281C>G (p.Ser94Trp) GRCh37: Chr19:45411834 GRCh38: Chr19:44908577	APOE	S120W, S94W	Cardiovascular phenotype	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 14324832.	NM_000041.4(APOE):c.292del (p.Glu98fs) GRCh37: Chr19:45411844 GRCh38: Chr19:44908587	APOE	E124fs, E98fs	not provided	not provided	no assertion provided
Select item 179825633.	NM_000041.4(APOE):c.296A>G (p.Gln99Arg) GRCh37: Chr19:45411849 GRCh38: Chr19:44908592	APOE	Q99R, Q125R	Cardiovascular phenotype	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 47890534.	NM_000041.4(APOE):c.305C>G (p.Pro102Arg) GRCh37: Chr19:45411858 GRCh38: Chr19:44908601	APOE	P102R, P128R		no interpretation for the single variant	no interpretation for the single variant
Select item 179948035.	NM_000041.4(APOE):c.306G>C (p.Pro102_Val103=) GRCh37: Chr19:45411859 GRCh38: Chr19:44908602	APOE		Cardiovascular phenotype	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 179947836.	NM_000041.4(APOE):c.306G>A (p.Pro102_Val103=) GRCh37: Chr19:45411859 GRCh38: Chr19:44908602	APOE		Cardiovascular phenotype	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 172773337.	NM_000041.4(APOE):c.310G>A (p.Ala104Thr) GRCh37: Chr19:45411863 GRCh38: Chr19:44908606	APOE	A130T, A104T	Cardiovascular phenotype	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 172794538.	NM_000041.4(APOE):c.312G>A (p.Ala104_Glu105=) GRCh37: Chr19:45411865 GRCh38: Chr19:44908608	APOE		Cardiovascular phenotype	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 131588039.	NM_000041.4(APOE):c.335C>A (p.Ser112Tyr) GRCh37: Chr19:45411888 GRCh38: Chr19:44908631	APOE	S112Y, S138Y	not provided	Uncertain significance (Jul 20, 2019)	criteria provided, single submitter
Select item 47885140.	NM_000041.4(APOE):c.349G>A (p.Ala117Thr) GRCh37: Chr19:45411902 GRCh38: Chr19:44908645	APOE	A117T, A143T		no interpretation for the single variant	no interpretation for the single variant
Select item 173258241.	NM_000041.4(APOE):c.354G>T (p.Ala118_Gln119=) GRCh37: Chr19:45411907 GRCh38: Chr19:44908650	APOE		Cardiovascular phenotype	Likely benign (Feb 2, 2020)	criteria provided, single submitter
Select item 171056842.	NM_000041.4(APOE):c.356A>C (p.Gln119Pro) GRCh37: Chr19:45411909 GRCh38: Chr19:44908652	APOE	Q119P, Q145P	not provided, Cardiovascular phenotype	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173339443.	NM_000041.4(APOE):c.362G>A (p.Arg121Gln) GRCh37: Chr19:45411915 GRCh38: Chr19:44908658	APOE	R147Q, R121Q	Cardiovascular phenotype	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 8863944.	NM_000041.4(APOE):c.364C>A (p.Leu122Met) GRCh37: Chr19:45411917 GRCh38: Chr19:44908660	APOE	L122M, L148M	Major depressive disorder	not provided (Jul 4, 2012)	no assertion provided
Select item 71048645.	NM_000041.4(APOE):c.381G>A (p.Glu127=) GRCh37: Chr19:45411934 GRCh38: Chr19:44908677	APOE		not provided, Cardiovascular phenotype	Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69474246.	NM_000041.4(APOE):c.388= (p.Cys130=) GRCh37: Chr19:45411941 GRCh38: Chr19:44908684	APOE			no interpretation for the single variant	no interpretation for the single variant
Select item 44126947.	NM_000041.3(APOE):c.[305C>G;388T>C] GRCh37: Chr19:45411941 Chr19:45411858 GRCh38: Chr19:44908684 Chr19:44908601	APOE, APOE	C130R, C156R, P102R, P128R	APOE5 VARIANT	association (Nov 22, 2019)	no assertion criteria provided
Select item 44126848.	NM_000041.3(APOE):c.[137T>C;388T>C] GRCh37: Chr19:45411941 Chr19:45411110 GRCh38: Chr19:44908684 Chr19:44907853	APOE, APOE	C130R, C156R, L46P, L72P	Familial hypercholesterolemia, APOE4(-)-FREIBURG	Pathogenic/Likely pathogenic (May 27, 2020)	no assertion criteria provided
Select item 44126749.	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 44087050.	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 1786451.	NM_000041.4(APOE):c.388T>C (p.Cys130Arg) GRCh37: Chr19:45411941 GRCh38: Chr19:44908684	APOE	C130R, C156R	Primary degenerative dementia of the Alzheimer type, presenile onset, Lipoprotein glomerulopathy, Alzheimer disease 4, not provided, Alzheimer disease	Conflicting interpretations of pathogenicity; other; risk factor (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 131791052.	NM_000041.4(APOE):c.394C>T (p.Arg132Cys) GRCh37: Chr19:45411947 GRCh38: Chr19:44908690	APOE	R132C, R158C	not provided	Uncertain significance (Jan 13, 2020)	criteria provided, single submitter
Select item 1785353.	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 91785154.	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 173976455.	NM_000041.4(APOE):c.432C>T (p.Leu144_Gly145=) GRCh37: Chr19:45411985 GRCh38: Chr19:44908728	APOE		Cardiovascular phenotype	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 47890456.	NM_000041.4(APOE):c.434G>A (p.Gly145Asp) GRCh37: Chr19:45411987 GRCh38: Chr19:44908730	APOE	G145D, G171D	Hypercholesterolemia, Alzheimer disease 3, Alzheimer disease 2, Alzheimer disease 4, Age related macular degeneration 1, Familial type 3 hyperlipoproteinemia, Sea-blue histiocyte syndrome, Lipoprotein glomerulopathy	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174067257.	NM_000041.4(APOE):c.444C>G (p.Thr148_Glu149=) GRCh37: Chr19:45411997 GRCh38: Chr19:44908740	APOE		Cardiovascular phenotype	Likely benign (Feb 14, 2021)	criteria provided, single submitter
Select item 8864058.	NM_000041.4(APOE):c.451C>A (p.Leu151Met) GRCh37: Chr19:45412004 GRCh38: Chr19:44908747	APOE	L151M, L177M	Major depressive disorder	not provided (Jan 13, 2012)	no assertion provided
Select item 1787459.	NM_000041.4(APOE):c.455G>A (p.Arg152Gln) GRCh37: Chr19:45412008 GRCh38: Chr19:44908751	APOE	R152Q, R178Q	APOE2 VARIANT	Pathogenic (Aug 1, 1991)	no assertion criteria provided
Select item 174155860.	NM_000041.4(APOE):c.456G>T (p.Arg152_Val153=) GRCh37: Chr19:45412009 GRCh38: Chr19:44908752	APOE		Cardiovascular phenotype	Likely benign (Jun 1, 2019)	criteria provided, single submitter
Select item 69458561.	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 1785062.	NM_000041.4(APOE):c.460C>A (p.Arg154Ser) GRCh37: Chr19:45412013 GRCh38: Chr19:44908756	APOE	R154S, R180S	Familial type 3 hyperlipoproteinemia	Pathogenic (Nov 1, 1988)	no assertion criteria provided
Select item 37563663.	NM_000041.4(APOE):c.461G>T (p.Arg154Leu) GRCh37: Chr19:45412014 GRCh38: Chr19:44908757	APOE	R154L, R180L	Abnormal circulating lipid concentration	Likely pathogenic (Dec 21, 2015)	criteria provided, single submitter
Select item 48734664.	NM_000041.4(APOE):c.478C>T (p.Arg160Cys) GRCh37: Chr19:45412031 GRCh38: Chr19:44908774	APOE	R160C, R186C		no interpretation for the single variant	no interpretation for the single variant
Select item 44126465.	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 1785166.	NM_000041.4(APOE):c.487C>T (p.Arg163Cys) GRCh37: Chr19:45412040 GRCh38: Chr19:44908783	APOE	R163C, R189C	Cardiovascular phenotype, not provided, not specified	Conflicting interpretations of pathogenicity (Feb 15, 2021)	criteria provided, conflicting interpretations
Select item 168722267.	NM_000041.4(APOE):c.488G>T (p.Arg163Leu) GRCh37: Chr19:45412041 GRCh38: Chr19:44908784	APOE	R163L, R189L	Lipoprotein glomerulopathy	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 1787968.	NM_000041.4(APOE):c.488G>C (p.Arg163Pro) GRCh37: Chr19:45412041 GRCh38: Chr19:44908784	APOE	R163P, R189P	Lipoprotein glomerulopathy	Pathogenic (Oct 6, 2000)	no assertion criteria provided
Select item 1786569.	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 174392370.	NM_000041.4(APOE):c.489T>G (p.Arg163_Lys164=) GRCh37: Chr19:45412042 GRCh38: Chr19:44908785	APOE		Cardiovascular phenotype	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 1785871.	NM_000041.4(APOE):c.490A>C (p.Lys164Gln) GRCh37: Chr19:45412043 GRCh38: Chr19:44908786	APOE	K164Q, K190Q	Hyperlipoproteinemia, type III, due to APOE2	Pathogenic (Jan 1, 1990)	no assertion criteria provided
Select item 1785772.	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 107701373.	NM_000041.4(APOE):c.494G>C (p.Arg165Pro) GRCh37: Chr19:45412047 GRCh38: Chr19:44908790	APOE	R165P, R191P	Lipoprotein glomerulopathy	Likely pathogenic	criteria provided, single submitter
Select item 12645674.	NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) GRCh37: Chr19:45412049-45412051 GRCh38: Chr19:44908792-44908794	APOE	L167del, L193del	Cardiovascular phenotype	Pathogenic (Dec 19, 2018)	criteria provided, single submitter
Select item 47885075.	NM_000041.4(APOE):c.508G>C (p.Ala170Pro) GRCh37: Chr19:45412061 GRCh38: Chr19:44908804	APOE	A170P, A196P		no interpretation for the single variant	no interpretation for the single variant
Select item 44127076.	NM_000041.3(APOE):c.[349G>A;508G>C] GRCh37: Chr19:45412061 Chr19:45411902 GRCh38: Chr19:44908804 Chr19:44908645	APOE, APOE	A170P, A196P, A117T, A143T	APOE3 VARIANT	Pathogenic (May 25, 1984)	no assertion criteria provided
Select item 69474177.	NM_000041.4(APOE):c.526= (p.Arg176=) GRCh37: Chr19:45412079 GRCh38: Chr19:44908822	APOE			no interpretation for the single variant	no interpretation for the single variant
Select item 44126678.	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 44126579.	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 44126280.	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 1786381.	NM_000041.4(APOE):c.[388=;526=] GRCh37: Chr19:45412079 Chr19:45411941 GRCh38: Chr19:44908822 Chr19:44908684	APOE, APOE		APOE3 ISOFORM	Pathogenic (Sep 10, 1981)	no assertion criteria provided
Select item 1784882.	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
Select item 174715483.	NM_000041.4(APOE):c.537G>A (p.Val179_Tyr180=) GRCh37: Chr19:45412090 GRCh38: Chr19:44908833	APOE		Cardiovascular phenotype	Likely benign (Mar 17, 2020)	criteria provided, single submitter
Select item 174748884.	NM_000041.4(APOE):c.542A>T (p.Gln181Leu) GRCh37: Chr19:45412095 GRCh38: Chr19:44908838	APOE	Q181L, Q207L	Cardiovascular phenotype	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 174772285.	NM_000041.4(APOE):c.546C>T (p.Ala182_Gly183=) GRCh37: Chr19:45412099 GRCh38: Chr19:44908842	APOE		Cardiovascular phenotype	Likely benign (Jul 23, 2019)	criteria provided, single submitter
Select item 134157586.	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 174812787.	NM_000041.4(APOE):c.552C>T (p.Ala184_Arg185=) GRCh37: Chr19:45412105 GRCh38: Chr19:44908848	APOE		Cardiovascular phenotype	Likely benign (Oct 6, 2020)	criteria provided, single submitter
Select item 174828688.	NM_000041.4(APOE):c.555C>T (p.Arg185_Glu186=) GRCh37: Chr19:45412108 GRCh38: Chr19:44908851	APOE		Cardiovascular phenotype	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 175030289.	NM_000041.4(APOE):c.588C>T (p.Arg196_Glu197=) GRCh37: Chr19:45412141 GRCh38: Chr19:44908884	APOE		Cardiovascular phenotype	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 175049790.	NM_000041.4(APOE):c.591G>A (p.Glu197_Arg198=) GRCh37: Chr19:45412144 GRCh38: Chr19:44908887	APOE		Cardiovascular phenotype	Likely benign (Dec 5, 2020)	criteria provided, single submitter
Select item 175089691.	NM_000041.4(APOE):c.598G>C (p.Gly200Arg) GRCh37: Chr19:45412151 GRCh38: Chr19:44908894	APOE	G200R, G226R	Cardiovascular phenotype	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 175193992.	NM_000041.4(APOE):c.615G>A (p.Gln205_Gly206=) GRCh37: Chr19:45412168 GRCh38: Chr19:44908911	APOE		Cardiovascular phenotype	Likely benign (Oct 11, 2021)	criteria provided, single submitter
Select item 175226193.	NM_000041.4(APOE):c.621C>A (p.Arg207_Val208=) GRCh37: Chr19:45412174 GRCh38: Chr19:44908917	APOE		Cardiovascular phenotype	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 175238594.	NM_000041.4(APOE):c.623T>G (p.Val208Gly) GRCh37: Chr19:45412176 GRCh38: Chr19:44908919	APOE	V208G, V234G	Cardiovascular phenotype	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 175258895.	NM_000041.4(APOE):c.627G>A (p.Arg209_Ala210=) GRCh37: Chr19:45412180 GRCh38: Chr19:44908923	APOE		Cardiovascular phenotype	Likely benign (Jan 10, 2021)	criteria provided, single submitter
Select item 175323596.	NM_000041.4(APOE):c.638T>G (p.Val213Gly) GRCh37: Chr19:45412191 GRCh38: Chr19:44908934	APOE	V239G, V213G	Cardiovascular phenotype	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 71846597.	NM_000041.4(APOE):c.639G>T (p.Val213=) GRCh37: Chr19:45412192 GRCh38: Chr19:44908935	APOE		not provided, Cardiovascular phenotype	Likely benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175337498.	NM_000041.4(APOE):c.640G>A (p.Gly214Ser) GRCh37: Chr19:45412193 GRCh38: Chr19:44908936	APOE	G214S, G240S	Cardiovascular phenotype	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 77928699.	NM_000041.4(APOE):c.651C>T (p.Ala217=) GRCh37: Chr19:45412204 GRCh38: Chr19:44908947	APOE		Cardiovascular phenotype, not provided, Alzheimer disease 3, Alzheimer disease 2, Alzheimer disease 4, Lipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia, Age related macular degeneration 1, Sea-blue histiocyte syndrome	Benign/Likely benign (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1755132100.	NM_000041.4(APOE):c.672G>T (p.Arg224_Ala225=) GRCh37: Chr19:45412225 GRCh38: Chr19:44908968	APOE		Cardiovascular phenotype	Likely benign (Aug 2, 2020)	criteria provided, single submitter

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