Related gene-specific medical variations for Gene (Select 348) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439146	NM_000041.4(APOE):c.480_488del (p.159LRK[1])	APOE	Deletion (inframe_deletion)	not provided	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 694742	NM_000041.4(APOE):c.388= (p.Cys130=)	APOE	Single nucleotide variant (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 694741	NM_000041.4(APOE):c.526= (p.Arg176=)	APOE	Variation (no sequence alteration)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 478905	NM_000041.4(APOE):c.305C>G (p.Pro102Arg)	APOE (P102R +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 478870	NM_000041.2(APOE):c.725G>A (p.Arg242Gln)	APOE (R268Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 478851	NM_000041.4(APOE):c.349G>A (p.Ala117Thr)	APOE (A117T +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 478850	NM_000041.4(APOE):c.508G>C (p.Ala170Pro)	APOE (A170P +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 478838	NM_000041.4(APOE):c.787G>A (p.Glu263Lys)	APOE (E263K +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 478832	NM_000041.4(APOE):c.784G>A (p.Glu262Lys)	APOE (E262K +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 143248	NM_000041.4(APOE):c.292del (p.Glu98fs)	APOE (E124fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 88640	NM_000041.4(APOE):c.451C>A (p.Leu151Met)	APOE (L151M +1 more)	Single nucleotide variant (missense variant)	Major depressive disorder	Gnot provided
Select item 88639	NM_000041.4(APOE):c.364C>A (p.Leu122Met)	APOE (L122M +1 more)	Single nucleotide variant (missense variant)	Major depressive disorder	Gnot provided