"GeneDx"[submitter] AND "APOE"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329718	NM_000041.4(APOE):c.-23-280C>T	APOE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264941	NM_000041.4(APOE):c.43+78G>A	APOE	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 2575584	NM_000041.4(APOE):c.190C>T (p.Gln64Ter)	APOE (Q64* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1210067	NM_000041.4(APOE):c.237-16_237-13del	APOE	Deletion (intron variant)	not provided	GLikely benign
Select item 3340172	NM_000041.4(APOE):c.268A>G (p.Lys90Glu)	APOE (K116E +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)	not provided +1 more	GUncertain significance
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 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 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 126456	NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)	APOE (L167del +1 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +1 more	GPathogenic
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 1315806	NM_000041.4(APOE):c.688G>A (p.Glu230Lys)	APOE (E230K +1 more)	Single nucleotide variant (missense variant)	Lipoprotein glomerulopathy +7 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 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 478872	NM_000041.4(APOE):c.761T>A (p.Val254Glu)	APOE (V254E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
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 1764810	NM_000041.4(APOE):c.882G>T (p.Trp294Cys)	APOE (W294C +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia +2 more	GUncertain significance
Select item 1197019	NC_000019.10:g.44909484C>G	APOE	Single nucleotide variant	not provided	GLikely benign
Select item 1287640	NC_000019.10:g.44909535del	APOE	Deletion	not provided	GBenign
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 28