APOE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619951	NC_000019.10:g.44905579T>G	APOE	Single nucleotide variant	Warfarin response	Gdrug response
Select item 17877	NM_000041.2(APOE):c.-286T=	APOE	Single nucleotide variant	Coronary artery disease, severe, susceptibility to	Grisk factor
Select item 2635119	NM_000041.4(APOE):c.-24+47G>A	APOE (R7K)	Single nucleotide variant (missense variant +1 more)	APOE-related condition	GUncertain significance
Select item 1175067	NM_000041.4(APOE):c.-24+69C>G	APOE (N14K)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1722323	NM_000041.4(APOE):c.-24+82G>A	APOE (D19N)	Single nucleotide variant (missense variant +1 more)	APOE-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1329718	NM_000041.4(APOE):c.-23-280C>T	APOE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1789275	NM_000041.4(APOE):c.22T>C (p.Leu8=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1803815	NM_000041.4(APOE):c.31A>G (p.Thr11Ala)	APOE (T11A +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia +1 more	GUncertain significance
Select item 1264941	NM_000041.4(APOE):c.43+78G>A	APOE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 619952	NM_000041.4(APOE):c.43+520G>A	APOE	Single nucleotide variant (intron variant)	Warfarin response	Gdrug response
Select item 17849	NM_000041.4(APOE):c.61G>A (p.Glu21Lys)	APOE (E21K +1 more)	Single nucleotide variant (missense variant)	HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5	GPathogenic
Select item 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Alzheimer disease 2 +7 more	GLikely benign
Select item 1209987	NM_000041.4(APOE):c.90C>G (p.Pro30=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 440842	NM_000041.4(APOE):c.91G>A (p.Glu31Lys)	APOE (E31K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328619	NM_000041.4(APOE):c.108C>G (p.Thr36=)	APOE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320871	NM_000041.4(APOE):c.114G>A (p.Trp38Ter)	APOE (W38* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1298772	NM_000041.4(APOE):c.120C>T (p.Ser40=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1762635	NM_000041.4(APOE):c.125A>C (p.Gln42Pro)	APOE (Q42P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 17880	NM_000041.4(APOE):c.127C>T (p.Arg43Cys)	APOE (R43C +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +6 more	GPathogenic/Likely pathogenic
Select item 242765	NM_000041.4(APOE):c.137T>C (p.Leu46Pro)	APOE (L46P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1771513	NM_000041.4(APOE):c.138G>A (p.Leu46=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 17861	NM_000041.4(APOE):c.146del (p.Gly49fs)	APOE (G49fs +1 more)	Deletion (frameshift variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 451406	NM_000041.4(APOE):c.148C>A (p.Arg50Ser)	APOE (R50S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2451019	NM_000041.4(APOE):c.163C>T (p.Leu55=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3031963	NM_000041.4(APOE):c.165G>C (p.Leu55=)	APOE	Single nucleotide variant (synonymous variant)	APOE-related condition	GLikely benign
Select item 1320334	NM_000041.4(APOE):c.167G>A (p.Arg56His)	APOE (R56H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 17871	NM_000041.4(APOE):c.178A>G (p.Thr60Ala)	APOE (T60A +1 more)	Single nucleotide variant (missense variant)	APOE3(-)-FREIBURG	GPathogenic
Select item 2575584	NM_000041.4(APOE):c.190C>T (p.Gln64Ter)	APOE (Q64* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2514464	NM_000041.4(APOE):c.192G>C (p.Gln64His)	APOE (Q90H +1 more)	Single nucleotide variant (missense variant)	APOE-related condition +1 more	GUncertain significance
Select item 2451018	NM_000041.4(APOE):c.193G>T (p.Val65Leu)	APOE (V65L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1786056	NM_000041.4(APOE):c.210C>T (p.Leu70=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1786732	NM_000041.4(APOE):c.214T>G (p.Ser72Ala)	APOE (S98A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1210067	NM_000041.4(APOE):c.237-16_237-13del	APOE	Deletion (intron variant)	not provided	GLikely benign
Select item 3047229	NM_000041.4(APOE):c.237-8G>C	APOE	Single nucleotide variant (intron variant)	APOE-related condition	GLikely benign
Select item 2412586	NM_000041.4(APOE):c.237-4G>T	APOE	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GUncertain significance
Select item 17852	NM_000041.4(APOE):c.237-2A>G	APOE	Single nucleotide variant (splice acceptor variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 760030	NM_000041.4(APOE):c.249C>T (p.Asp83=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GLikely benign
Select item 1796120	NM_000041.4(APOE):c.279A>G (p.Lys93=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796422	NM_000041.4(APOE):c.281C>G (p.Ser94Trp)	APOE (S120W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 143248	NM_000041.4(APOE):c.292del (p.Glu98fs)	APOE (E124fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 1798256	NM_000041.4(APOE):c.296A>G (p.Gln99Arg)	APOE (Q99R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 478905	NM_000041.4(APOE):c.305C>G (p.Pro102Arg)	APOE (P102R +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1799480	NM_000041.4(APOE):c.306G>C (p.Pro102=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1799478	NM_000041.4(APOE):c.306G>A (p.Pro102=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1727733	NM_000041.4(APOE):c.310G>A (p.Ala104Thr)	APOE (A130T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727945	NM_000041.4(APOE):c.312G>A (p.Ala104=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3066201	NM_000041.4(APOE):c.327dup (p.Arg110fs)	APOE (R110fs +1 more)	Duplication (frameshift variant)	Familial type 3 hyperlipoproteinemia	GUncertain significance
Select item 1315880	NM_000041.4(APOE):c.335C>A (p.Ser112Tyr)	APOE (S112Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2565617	NM_000041.4(APOE):c.336C>G (p.Ser112=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 478851	NM_000041.4(APOE):c.349G>A (p.Ala117Thr)	APOE (A117T +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1732582	NM_000041.4(APOE):c.354G>T (p.Ala118=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1710568	NM_000041.4(APOE):c.356A>C (p.Gln119Pro)	APOE (Q119P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1733394	NM_000041.4(APOE):c.362G>A (p.Arg121Gln)	APOE (R147Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 88639	NM_000041.4(APOE):c.364C>A (p.Leu122Met)	APOE (L122M +1 more)	Single nucleotide variant (missense variant)	Major depressive disorder	Gnot provided
Select item 2565616	NM_000041.4(APOE):c.370G>A (p.Ala124Thr)	APOE (A124T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 710486	NM_000041.4(APOE):c.381G>A (p.Glu127=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2446926	NM_000041.4(APOE):c.384C>T (p.Asp128=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3032874	NM_000041.4(APOE):c.387G>A (p.Val129=)	APOE	Single nucleotide variant (synonymous variant)	APOE-related condition	GLikely benign
Select item 694742	NM_000041.4(APOE):c.388= (p.Cys130=)	APOE	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 441269	NM_000041.3(APOE):c.[305C>G;388T>C]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	APOE5 VARIANT	Gassociation
Select item 441268	NM_000041.3(APOE):c.[137T>C;388T>C]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 441267	NM_000041.3(APOE):c.[388T>C;805C>G]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 440870	NM_000041.3(APOE):c.[388T>C;478C>T]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 17864	NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	APOE (C130R +1 more)	Single nucleotide variant (missense variant)	Primary degenerative dementia of the Alzheimer type, presenile onset +4 more	GConflicting classifications of pathogenicity; other; risk factor
Select item 1317910	NM_000041.4(APOE):c.394C>T (p.Arg132Cys)	APOE (R132C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498787	NM_000041.4(APOE):c.409C>G (p.Arg137Gly)	APOE (R137G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17853	NM_000041.4(APOE):c.415_435dup (p.Glu139_Gly145dup)	APOE	Duplication (inframe_insertion)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 2565615	NM_000041.4(APOE):c.414C>T (p.Gly138=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2307328	NM_000041.4(APOE):c.416A>G (p.Glu139Gly)	APOE (E139G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917851	NM_000041.4(APOE):c.422A>G (p.Gln141Arg)	APOE (Q141R +1 more)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia +2 more	GUncertain significance
Select item 1739764	NM_000041.4(APOE):c.432C>T (p.Leu144=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 478904	NM_000041.4(APOE):c.434G>A (p.Gly145Asp)	APOE (G145D +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 2 +7 more	GUncertain significance
Select item 1740672	NM_000041.4(APOE):c.444C>G (p.Thr148=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 88640	NM_000041.4(APOE):c.451C>A (p.Leu151Met)	APOE (L151M +1 more)	Single nucleotide variant (missense variant)	Major depressive disorder	Gnot provided
Select item 17874	NM_000041.4(APOE):c.455G>A (p.Arg152Gln)	APOE (R152Q +1 more)	Single nucleotide variant (missense variant)	APOE2 VARIANT	GPathogenic
Select item 1741558	NM_000041.4(APOE):c.456G>T (p.Arg152=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 694585	NM_000041.4:c.[388=;460C>A526=]	APOE (R154S +1 more)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease 3, protection against, due to APOE3-Christchurch	Gprotective
Select item 17850	NM_000041.4(APOE):c.460C>A (p.Arg154Ser)	APOE (R154S +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GLikely pathogenic
Select item 375636	NM_000041.4(APOE):c.461G>T (p.Arg154Leu)	APOE (R154L +1 more)	Single nucleotide variant (missense variant)	Abnormal circulating lipid concentration	GLikely pathogenic
Select item 2439146	NM_000041.4(APOE):c.480_488del (p.159LRK[1])	APOE	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 487346	NM_000041.4(APOE):c.478C>T (p.Arg160Cys)	APOE (R160C +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GLikely pathogenic
Select item 2624706	NM_000041.4(APOE):c.484C>A (p.Leu162Met)	APOE (L162M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 441264	NM_000041.3(APOE):c.[487C>T;91G>A]	APOE (R163C +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 17851	NM_000041.4(APOE):c.487C>T (p.Arg163Cys)	APOE (R163C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1687222	NM_000041.4(APOE):c.488G>T (p.Arg163Leu)	APOE (R163L +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy	GUncertain significance
Select item 17879	NM_000041.4(APOE):c.488G>C (p.Arg163Pro)	APOE (R163P +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy	GPathogenic
Select item 17865	NM_000041.4(APOE):c.488G>A (p.Arg163His)	APOE (R163H +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy	GLikely pathogenic
Select item 1743923	NM_000041.4(APOE):c.489T>G (p.Arg163=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 17858	NM_000041.4(APOE):c.490A>C (p.Lys164Gln)	APOE (K164Q +1 more)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type III, due to APOE2	GPathogenic
Select item 17857	NM_000041.4(APOE):c.490A>G (p.Lys164Glu)	APOE (K164E +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 1077013	NM_000041.4(APOE):c.494G>C (p.Arg165Pro)	APOE (R165P +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy	GLikely pathogenic
Select item 3055012	NM_000041.4(APOE):c.495G>T (p.Arg165=)	APOE	Single nucleotide variant (synonymous variant)	APOE-related condition	GLikely benign
Select item 126456	NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)	APOE (L167del +1 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +1 more	GPathogenic
Select item 478850	NM_000041.4(APOE):c.508G>C (p.Ala170Pro)	APOE (A170P +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 441270	NM_000041.3(APOE):c.[349G>A;508G>C]	APOE (A170P +3 more)	Single nucleotide variant (missense variant)	APOE3 VARIANT	GPathogenic
Select item 694741	NM_000041.4(APOE):c.526= (p.Arg176=)	APOE	Variation (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 441266	NM_000041.3(APOE):c.[526C>T;761T>A]	APOE (R176C +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 441265	NM_000041.3(APOE):c.[526C>T;725G>A]	APOE (R176C +2 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 441262	NM_000041.3(APOE):c.[434G>A;526C>T]	APOE (R176C +3 more)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia due to APOE1	GPathogenic
Select item 17863	NM_000041.4(APOE):c.[388=;526=]	APOE	Variation (no sequence alteration)	APOE3 ISOFORM	GPathogenic

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