348[geneid] - ClinVar - NCBI

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

Result Filters

Search results

Items: 1 to 100 of 178

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6199511.	NC_000019.10:g.44905579T>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 26351193.	NM_000041.4(APOE):c.-24+47G>A GRCh37: Chr19:45409145 GRCh38: Chr19:44905888	APOE	R7K	APOE-related condition	Uncertain significance (Mar 23, 2023)	criteria provided, single submitter
Select item 11750674.	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 17223235.	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 13297186.	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 17892757.	NM_000041.4(APOE):c.22T>C (p.Leu8=) GRCh37: Chr19:45409903 GRCh38: Chr19:44906646	APOE		Cardiovascular phenotype	Likely benign (May 4, 2020)	criteria provided, single submitter
Select item 18038158.	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 12649419.	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 61995210.	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 1784911.	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 121003412.	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 120998713.	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 44084214.	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 132861915.	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 132087116.	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 129877217.	NM_000041.4(APOE):c.120C>T (p.Ser40=) GRCh37: Chr19:45411093 GRCh38: Chr19:44907836	APOE		not provided, Cardiovascular phenotype	Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176263518.	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 1788019.	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 24276520.	NM_000041.4(APOE):c.137T>C (p.Leu46Pro) GRCh37: Chr19:45411110 GRCh38: Chr19:44907853	APOE	L46P, L72P	Cardiovascular phenotype, not provided, Alzheimer disease 4	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 177151321.	NM_000041.4(APOE):c.138G>A (p.Leu46=) GRCh37: Chr19:45411111 GRCh38: Chr19:44907854	APOE		Cardiovascular phenotype	Likely benign (Sep 17, 2021)	criteria provided, single submitter
Select item 1786122.	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 45140623.	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 245101924.	NM_000041.4(APOE):c.163C>T (p.Leu55=) GRCh37: Chr19:45411136 GRCh38: Chr19:44907879	APOE		Cardiovascular phenotype	Likely benign (Dec 25, 2022)	criteria provided, single submitter
Select item 132033425.	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 1787126.	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 257558427.	NM_000041.4(APOE):c.190C>T (p.Gln64Ter) GRCh37: Chr19:45411163 GRCh38: Chr19:44907906	APOE	Q64, Q90	not provided	Uncertain significance (Feb 8, 2023)	criteria provided, single submitter
Select item 251446428.	NM_000041.4(APOE):c.192G>C (p.Gln64His) GRCh37: Chr19:45411165 GRCh38: Chr19:44907908	APOE	Q90H, Q64H	Inborn genetic diseases	Uncertain significance (May 8, 2023)	criteria provided, single submitter
Select item 245101829.	NM_000041.4(APOE):c.193G>T (p.Val65Leu) GRCh37: Chr19:45411166 GRCh38: Chr19:44907909	APOE	V65L, V91L	Cardiovascular phenotype	Uncertain significance (Dec 23, 2022)	criteria provided, single submitter
Select item 178605630.	NM_000041.4(APOE):c.210C>T (p.Leu70=) GRCh37: Chr19:45411183 GRCh38: Chr19:44907926	APOE		Cardiovascular phenotype	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 178673231.	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 121006732.	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 241258633.	NM_000041.4(APOE):c.237-4G>T GRCh37: Chr19:45411786 GRCh38: Chr19:44908529	APOE		Familial hypercholesterolemia	Uncertain significance (Apr 26, 2021)	no assertion criteria provided
Select item 1785234.	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 76003035.	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 179612036.	NM_000041.4(APOE):c.279A>G (p.Lys93=) GRCh37: Chr19:45411832 GRCh38: Chr19:44908575	APOE		Cardiovascular phenotype	Likely benign (Sep 22, 2019)	criteria provided, single submitter
Select item 179642237.	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 14324838.	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 179825639.	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 47890540.	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 179948041.	NM_000041.4(APOE):c.306G>C (p.Pro102=) GRCh37: Chr19:45411859 GRCh38: Chr19:44908602	APOE		Cardiovascular phenotype	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 179947842.	NM_000041.4(APOE):c.306G>A (p.Pro102=) GRCh37: Chr19:45411859 GRCh38: Chr19:44908602	APOE		Cardiovascular phenotype	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 172773343.	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 172794544.	NM_000041.4(APOE):c.312G>A (p.Ala104=) GRCh37: Chr19:45411865 GRCh38: Chr19:44908608	APOE		Cardiovascular phenotype	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 131588045.	NM_000041.4(APOE):c.335C>A (p.Ser112Tyr) GRCh37: Chr19:45411888 GRCh38: Chr19:44908631	APOE	S112Y, S138Y	not provided, Inborn genetic diseases	Uncertain significance (Sep 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 256561746.	NM_000041.4(APOE):c.336C>G (p.Ser112=) GRCh37: Chr19:45411889 GRCh38: Chr19:44908632	APOE		Cardiovascular phenotype	Likely benign (May 11, 2023)	criteria provided, single submitter
Select item 47885147.	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 173258248.	NM_000041.4(APOE):c.354G>T (p.Ala118=) GRCh37: Chr19:45411907 GRCh38: Chr19:44908650	APOE		Cardiovascular phenotype	Likely benign (Feb 2, 2020)	criteria provided, single submitter
Select item 171056849.	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 173339450.	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 8863951.	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 256561652.	NM_000041.4(APOE):c.370G>A (p.Ala124Thr) GRCh37: Chr19:45411923 GRCh38: Chr19:44908666	APOE	A124T, A150T	Cardiovascular phenotype	Uncertain significance (Apr 16, 2023)	criteria provided, single submitter
Select item 71048653.	NM_000041.4(APOE):c.381G>A (p.Glu127=) GRCh37: Chr19:45411934 GRCh38: Chr19:44908677	APOE		Cardiovascular phenotype, not provided	Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 244692654.	NM_000041.4(APOE):c.384C>T (p.Asp128=) GRCh37: Chr19:45411937 GRCh38: Chr19:44908680	APOE		Cardiovascular phenotype	Likely benign (Feb 3, 2023)	criteria provided, single submitter
Select item 69474255.	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 44126956.	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 44126857.	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 44126758.	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 44087059.	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 1786460.	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, not provided, Lipoprotein glomerulopathy, Alzheimer disease, Alzheimer disease 4	Conflicting interpretations of pathogenicity; other; risk factor (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 131791061.	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 249878762.	NM_000041.4(APOE):c.409C>G (p.Arg137Gly) GRCh37: Chr19:45411962 GRCh38: Chr19:44908705	APOE	R137G, R163G	not provided	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 1785363.	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 256561564.	NM_000041.4(APOE):c.414C>T (p.Gly138=) GRCh37: Chr19:45411967 GRCh38: Chr19:44908710	APOE		Cardiovascular phenotype	Likely benign (Apr 3, 2023)	criteria provided, single submitter
Select item 230732865.	NM_000041.4(APOE):c.416A>G (p.Glu139Gly) GRCh37: Chr19:45411969 GRCh38: Chr19:44908712	APOE	E139G, E165G	Inborn genetic diseases	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 91785166.	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 173976467.	NM_000041.4(APOE):c.432C>T (p.Leu144=) GRCh37: Chr19:45411985 GRCh38: Chr19:44908728	APOE		Cardiovascular phenotype	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 47890468.	NM_000041.4(APOE):c.434G>A (p.Gly145Asp) GRCh37: Chr19:45411987 GRCh38: Chr19:44908730	APOE	G145D, G171D	Alzheimer disease 3, Alzheimer disease 2, Alzheimer disease 4, Age related macular degeneration 1, Sea-blue histiocyte syndrome, Familial type 3 hyperlipoproteinemia, Lipoprotein glomerulopathy, Hypercholesterolemia	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174067269.	NM_000041.4(APOE):c.444C>G (p.Thr148=) GRCh37: Chr19:45411997 GRCh38: Chr19:44908740	APOE		Cardiovascular phenotype	Likely benign (Feb 14, 2021)	criteria provided, single submitter
Select item 8864070.	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 1787471.	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 174155872.	NM_000041.4(APOE):c.456G>T (p.Arg152=) GRCh37: Chr19:45412009 GRCh38: Chr19:44908752	APOE		Cardiovascular phenotype	Likely benign (Jun 1, 2019)	criteria provided, single submitter
Select item 69458573.	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 1785074.	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 37563675.	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 243914676.	NM_000041.4(APOE):c.480_488del (p.159LRK[1]) GRCh37: Chr19:45412028-45412036 GRCh38: Chr19:44908771-44908779	APOE		not provided	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 48734677.	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 262470678.	NM_000041.4(APOE):c.484C>A (p.Leu162Met) GRCh37: Chr19:45412037 GRCh38: Chr19:44908780	APOE	L162M, L188M	Cardiovascular phenotype	Uncertain significance (Jun 28, 2023)	criteria provided, single submitter
Select item 44126479.	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 1785180.	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 168722281.	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 1787982.	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 1786583.	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 174392384.	NM_000041.4(APOE):c.489T>G (p.Arg163=) GRCh37: Chr19:45412042 GRCh38: Chr19:44908785	APOE		Cardiovascular phenotype	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 1785885.	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 1785786.	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 107701387.	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 12645688.	NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) GRCh37: Chr19:45412049-45412051 GRCh38: Chr19:44908792-44908794	APOE	L167del, L193del	Cardiovascular phenotype, not provided	Pathogenic (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 47885089.	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 44127090.	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 69474191.	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 44126692.	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 44126593.	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 44126294.	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 1786395.	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 1784896.	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 174715497.	NM_000041.4(APOE):c.537G>A (p.Val179=) GRCh37: Chr19:45412090 GRCh38: Chr19:44908833	APOE		Cardiovascular phenotype	Likely benign (Mar 17, 2020)	criteria provided, single submitter
Select item 249931398.	NM_000041.4(APOE):c.541C>G (p.Gln181Glu) GRCh37: Chr19:45412094 GRCh38: Chr19:44908837	APOE	Q181E, Q207E	not provided	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 174748899.	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 2562132100.	NM_000041.4(APOE):c.544G>C (p.Ala182Pro) GRCh37: Chr19:45412097 GRCh38: Chr19:44908840	APOE	A182P, A208P	Cardiovascular phenotype	Uncertain significance (May 5, 2023)	criteria provided, single submitter

<< First< Prev

Page of 2