ClinVar for MedGen (Select 9364) - ClinVar

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Items: 32

	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 +1 more	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 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 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 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 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 972903	NM_000527.5(LDLR):c.2312-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Familial type 3 hyperlipoproteinemia	GPathogenic
Select item 972902	NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)	LDLR (C211* +3 more)	Duplication (nonsense)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 917851	NM_000041.4(APOE):c.422A>G (p.Gln141Arg)	APOE (Q141R +1 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia +2 more	GUncertain significance
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 760030	NM_000041.4(APOE):c.249C>T (p.Asp83=)	APOE	Single nucleotide variant (synonymous variant)	Lipoprotein glomerulopathy +8 more	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 666796	NM_000041.2:c.[388T>C];[526C>T]			not specified	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 478904	NM_000041.4(APOE):c.434G>A (p.Gly145Asp)	APOE (G145D +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +7 more	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 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 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 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 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 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 440870	NM_000041.3(APOE):c.[388T>C;478C>T]	APOE (C130R +3 more)	Single nucleotide variant (missense variant)	Familial type 3 hyperlipoproteinemia	Gnot provided
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 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 17862	NM_000041.4(APOE):c.683G>A (p.Trp228Ter)	APOE (W228* +1 more)	Single nucleotide variant (nonsense)	Familial type 3 hyperlipoproteinemia +1 more	GPathogenic
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 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 17853	NM_000041.4(APOE):c.415_435dup (p.Glu139_Gly145dup)	APOE	Duplication (inframe_insertion)	Familial type 3 hyperlipoproteinemia	GPathogenic
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 17851	NM_000041.4(APOE):c.487C>T (p.Arg163Cys)	APOE (R163C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 17848	NM_000041.2(APOE):c.526C>T (p.Arg176Cys)	APOE (R176C +1 more)	Single nucleotide variant (missense variant)	atorvastatin response - Efficacy	Gdrug response

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Items: 32