ClinVar for MedGen (Select 19908) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1210034	NM_000041.4(APOE):c.69G>A (p.Ala23=)	APOE	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 779286	NM_000041.4(APOE):c.651C>T (p.Ala217=)	APOE	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 760030	NM_000041.4(APOE):c.249C>T (p.Asp83=)	APOE	Single nucleotide variant (synonymous variant)	Age related macular degeneration 1 +8 more	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 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)	Alzheimer disease 3 +8 more	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 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 126456	NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)	APOE (L167del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic
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