ClinVar for Gene (Select 348) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3055012	NM_000041.4(APOE):c.495G>T (p.Arg165=)	APOE	Single nucleotide variant (synonymous variant)	APOE-related condition	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 3032874	NM_000041.4(APOE):c.387G>A (p.Val129=)	APOE	Single nucleotide variant (synonymous variant)	APOE-related condition	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 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 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 2594997	NM_000041.4(APOE):c.833G>T (p.Arg278Leu)	APOE (R278L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2586036	NM_000041.4(APOE):c.621C>T (p.Arg207=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2572764	NM_000041.4(APOE):c.737G>C (p.Arg246Pro)	APOE (R246P +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2565617	NM_000041.4(APOE):c.336C>G (p.Ser112=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2565615	NM_000041.4(APOE):c.414C>T (p.Gly138=)	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 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 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 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 2499380	NM_000041.4(APOE):c.692G>T (p.Arg231Leu)	APOE (R231L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499313	NM_000041.4(APOE):c.541C>G (p.Gln181Glu)	APOE (Q181E +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 2451019	NM_000041.4(APOE):c.163C>T (p.Leu55=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2446927	NM_000041.4(APOE):c.818A>G (p.Glu273Gly)	APOE (E273G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2446926	NM_000041.4(APOE):c.384C>T (p.Asp128=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2439146	NM_000041.4(APOE):c.480_488del (p.159LRK[1])	APOE	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2412586	NM_000041.4(APOE):c.237-4G>T	APOE	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2338186	NM_000041.4(APOE):c.670C>T (p.Arg224Trp)	APOE (R224W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2219434	NM_000041.4(APOE):c.714G>T (p.Glu238Asp)	APOE (E238D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 1796120	NM_000041.4(APOE):c.279A>G (p.Lys93=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 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 1786056	NM_000041.4(APOE):c.210C>T (p.Leu70=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1771513	NM_000041.4(APOE):c.138G>A (p.Leu46=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1766409	NM_000041.4(APOE):c.927C>G (p.Ala309=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1766316	NM_000041.4(APOE):c.924C>T (p.Ser308=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1765901	NM_000041.4(APOE):c.912C>T (p.Ala304=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1765256	NM_000041.4(APOE):c.895G>C (p.Glu299Gln)	APOE (E325Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1764810	NM_000041.4(APOE):c.882G>T (p.Trp294Cys)	APOE (W294C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1763883	NM_000041.4(APOE):c.856C>T (p.Leu286=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1763601	NM_000041.4(APOE):c.849C>T (p.Phe283=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1762954	NM_000041.4(APOE):c.832C>T (p.Arg278Cys)	APOE (R278C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1762036	NM_000041.4(APOE):c.810G>A (p.Leu270=)	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 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 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 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 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 1756777	NM_000041.4(APOE):c.702G>A (p.Ala234=)	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 1756154	NM_000041.4(APOE):c.691C>A (p.Arg231=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1755132	NM_000041.4(APOE):c.672G>T (p.Arg224=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 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 1752588	NM_000041.4(APOE):c.627G>A (p.Arg209=)	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 1752261	NM_000041.4(APOE):c.621C>A (p.Arg207=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1751939	NM_000041.4(APOE):c.615G>A (p.Gln205=)	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 1750497	NM_000041.4(APOE):c.591G>A (p.Glu197=)	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 1748286	NM_000041.4(APOE):c.555C>T (p.Arg185=)	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 1747722	NM_000041.4(APOE):c.546C>T (p.Ala182=)	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 1747154	NM_000041.4(APOE):c.537G>A (p.Val179=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1743923	NM_000041.4(APOE):c.489T>G (p.Arg163=)	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 1740672	NM_000041.4(APOE):c.444C>G (p.Thr148=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739764	NM_000041.4(APOE):c.432C>T (p.Leu144=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1732582	NM_000041.4(APOE):c.354G>T (p.Ala118=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1727945	NM_000041.4(APOE):c.312G>A (p.Ala104=)	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 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 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 1706316	NM_000041.4(APOE):c.866A>C (p.Asp289Ala)	APOE (D289A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 1341575	NM_000041.4(APOE):c.548G>C (p.Gly183Ala)	APOE (G183A +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	GLikely pathogenic
Select item 1329718	NM_000041.4(APOE):c.-23-280C>T	APOE	Single nucleotide variant (intron 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 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 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 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 1315806	NM_000041.4(APOE):c.688G>A (p.Glu230Lys)	APOE (E230K +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	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

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