"Ambry Genetics"[submitter] AND "APOE"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127999	NM_000041.4(APOE):c.19G>C (p.Ala7Pro)	APOE (A33P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1789275	NM_000041.4(APOE):c.22T>C (p.Leu8=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 3231977	NM_000041.4(APOE):c.84G>A (p.Pro28=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 3127998	NM_000041.4(APOE):c.116A>G (p.Gln39Arg)	APOE (Q39R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 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)	Cardiovascular phenotype	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 2514464	NM_000041.4(APOE):c.192G>C (p.Gln64His)	APOE (Q90H +1 more)	Single nucleotide variant (missense variant)	not provided +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 3231962	NM_000041.4(APOE):c.205C>T (p.Leu69=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3231964	NM_000041.4(APOE):c.240G>A (p.Ala80=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 760030	NM_000041.4(APOE):c.249C>T (p.Asp83=)	APOE	Single nucleotide variant (synonymous variant)	Lipoprotein glomerulopathy +8 more	GLikely benign
Select item 3128000	NM_000041.4(APOE):c.266T>C (p.Leu89Ser)	APOE (L89S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 3231965	NM_000041.4(APOE):c.283G>A (p.Glu95Lys)	APOE (E121K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 3231967	NM_000041.4(APOE):c.321G>A (p.Thr107=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3308503	NM_000041.4(APOE):c.323G>A (p.Arg108Gln)	APOE (R134Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1315880	NM_000041.4(APOE):c.335C>A (p.Ser112Tyr)	APOE (S112Y +1 more)	Single nucleotide variant (missense variant)	not provided +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 3231968	NM_000041.4(APOE):c.339G>A (p.Lys113=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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)	Cardiovascular phenotype +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 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)	not provided +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 3128001	NM_000041.4(APOE):c.394C>G (p.Arg132Gly)	APOE (R132G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	Cardiovascular phenotype	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 3308543	NM_000041.4(APOE):c.441C>T (p.Ser147=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740672	NM_000041.4(APOE):c.444C>G (p.Thr148=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3308507	NM_000041.4(APOE):c.453G>C (p.Leu151=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1741558	NM_000041.4(APOE):c.456G>T (p.Arg152=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231969	NM_000041.4(APOE):c.462C>T (p.Arg154=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231970	NM_000041.4(APOE):c.465C>T (p.Leu155=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 17851	NM_000041.4(APOE):c.487C>T (p.Arg163Cys)	APOE (R163C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1743923	NM_000041.4(APOE):c.489T>G (p.Arg163=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 3308535	NM_000041.4(APOE):c.513T>C (p.Asp171=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747154	NM_000041.4(APOE):c.537G>A (p.Val179=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747488	NM_000041.4(APOE):c.542A>T (p.Gln181Leu)	APOE (Q181L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2562132	NM_000041.4(APOE):c.544G>C (p.Ala182Pro)	APOE (A182P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1747722	NM_000041.4(APOE):c.546C>T (p.Ala182=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748127	NM_000041.4(APOE):c.552C>T (p.Ala184=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1748286	NM_000041.4(APOE):c.555C>T (p.Arg185=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231973	NM_000041.4(APOE):c.570C>G (p.Arg190=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562131	NM_000041.4(APOE):c.583A>T (p.Ile195Phe)	APOE (I195F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565619	NM_000041.4(APOE):c.588C>A (p.Arg196=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1750302	NM_000041.4(APOE):c.588C>T (p.Arg196=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1750497	NM_000041.4(APOE):c.591G>A (p.Glu197=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1750896	NM_000041.4(APOE):c.598G>C (p.Gly200Arg)	APOE (G200R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751939	NM_000041.4(APOE):c.615G>A (p.Gln205=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586036	NM_000041.4(APOE):c.621C>T (p.Arg207=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2562134	NM_000041.4(APOE):c.621C>G (p.Arg207=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1752261	NM_000041.4(APOE):c.621C>A (p.Arg207=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1752385	NM_000041.4(APOE):c.623T>G (p.Val208Gly)	APOE (V208G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586037	NM_000041.4(APOE):c.625C>T (p.Arg209Trp)	APOE (R235W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1752588	NM_000041.4(APOE):c.627G>A (p.Arg209=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1753235	NM_000041.4(APOE):c.638T>G (p.Val213Gly)	APOE (V239G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 718465	NM_000041.4(APOE):c.639G>T (p.Val213=)	APOE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1753374	NM_000041.4(APOE):c.640G>A (p.Gly214Ser)	APOE (G214S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231975	NM_000041.4(APOE):c.642C>T (p.Gly214=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 779286	NM_000041.4(APOE):c.651C>T (p.Ala217=)	APOE	Single nucleotide variant (synonymous variant)	Alzheimer disease 3 +8 more	GBenign/Likely benign
Select item 2565618	NM_000041.4(APOE):c.655C>G (p.Gln219Glu)	APOE (Q245E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2338186	NM_000041.4(APOE):c.670C>T (p.Arg224Trp)	APOE (R224W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755132	NM_000041.4(APOE):c.672G>T (p.Arg224=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756154	NM_000041.4(APOE):c.691C>A (p.Arg231=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756513	NM_000041.4(APOE):c.699C>T (p.Arg233=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3308514	NM_000041.4(APOE):c.700G>A (p.Ala234Thr)	APOE (A260T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1756777	NM_000041.4(APOE):c.702G>A (p.Ala234=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1757142	NM_000041.4(APOE):c.709G>A (p.Glu237Lys)	APOE (E263K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586039	NM_000041.4(APOE):c.714G>C (p.Glu238Asp)	APOE (E264D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2219434	NM_000041.4(APOE):c.714G>T (p.Glu238Asp)	APOE (E238D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2586038	NM_000041.4(APOE):c.719G>A (p.Gly240Asp)	APOE (G266D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3128002	NM_000041.4(APOE):c.727A>T (p.Thr243Ser)	APOE (T243S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3308526	NM_000041.4(APOE):c.733G>T (p.Asp245Tyr)	APOE (D271Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758697	NM_000041.4(APOE):c.739C>G (p.Leu247Val)	APOE (L273V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 729588	NM_000041.4(APOE):c.747G>A (p.Glu249=)	APOE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1760098	NM_000041.4(APOE):c.767A>T (p.Glu256Val)	APOE (E256V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760393	NM_000041.4(APOE):c.773G>A (p.Arg258His)	APOE (R258H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1209955	NM_000041.4(APOE):c.786G>A (p.Glu262=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1761097	NM_000041.4(APOE):c.789G>A (p.Glu263=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3308522	NM_000041.4(APOE):c.804A>C (p.Ile268=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 478884	NM_000041.4(APOE):c.805C>G (p.Arg269Gly)	APOE (R269G +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia +8 more	GUncertain significance

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