Related gene-specific medical variations for Gene (Select 1071) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349566	NM_000078.3(CETP):c.598-1G>C	CETP, LOC130059064	Single nucleotide variant (splice acceptor variant)	CETP-related disorder	GLikely pathogenic
Select item 3243575	NC_000016.9:g.(?_57015050)_(57017578_?)del	CETP	Deletion	not provided	GUncertain significance
Select item 3243574	NC_000016.9:g.(?_56995892)_(56997056_?)del	CETP	Deletion	not provided	GUncertain significance
Select item 3003432	NM_000078.3(CETP):c.596A>T (p.Gln199Leu)	CETP, LOC130059064 (Q199L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690564	NM_000078.3(CETP):c.964C>T (p.Gln322Ter)	CETP (Q262* +1 more)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GLikely pathogenic
Select item 2690563	NM_000078.3(CETP):c.266del (p.Ser89fs)	CETP (S89fs)	Deletion (frameshift variant)	Hyperalphalipoproteinemia 1	GLikely pathogenic
Select item 2617649	NM_000078.3(CETP):c.597+5G>A	CETP, LOC130059064	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2439924	NM_000078.3(CETP):c.544C>T (p.Gln182Ter)	CETP (Q182*)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GUncertain significance
Select item 2074162	NM_000078.3(CETP):c.597+2T>A	CETP, LOC130059064	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1994648	NM_000078.3(CETP):c.616G>A (p.Val206Ile)	LOC130059064, CETP (V206I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908944	NM_000078.3(CETP):c.598-15C>T	CETP, LOC130059064	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653167	NM_000078.3(CETP):c.636C>T (p.Ala212=)	CETP, LOC130059064	Single nucleotide variant (synonymous variant)	Hyperalphalipoproteinemia 1 +1 more	GBenign/Likely benign
Select item 1536450	NM_000078.3(CETP):c.598-18C>T	CETP, LOC130059064	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1324062	NM_000078.3(CETP):c.981+2T>C	CETP	Single nucleotide variant (splice donor variant)	Hyperalphalipoproteinemia 1	GLikely pathogenic
Select item 1324061	NM_000078.3(CETP):c.160C>T (p.Arg54Ter)	CETP (R54*)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GLikely pathogenic
Select item 1322066	NM_000078.3(CETP):c.268C>T (p.Gln90Ter)	CETP (Q90*)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GPathogenic
Select item 886618	NM_000078.3(CETP):c.598-13C>G	CETP, LOC130059064	Single nucleotide variant (intron variant)	Hyperalphalipoproteinemia 1 +1 more	GBenign/Likely benign
Select item 319981	NM_000078.3(CETP):c.658+8C>T	CETP, LOC130059064	Single nucleotide variant (intron variant)	not provided +1 more	GBenign