"Ambry Genetics"[submitter] AND "CETP"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2299398	NM_000078.3(CETP):c.43G>T (p.Ala15Ser)	CETP (A15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299401	NM_000078.3(CETP):c.44C>T (p.Ala15Val)	CETP (A15V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557714	NM_000078.3(CETP):c.73G>A (p.Glu25Lys)	CETP (E25K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2226144	NM_000078.3(CETP):c.200T>A (p.Met67Lys)	CETP (M67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302010	NM_000078.3(CETP):c.242T>A (p.Ile81Asn)	CETP (I81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329243	NM_000078.3(CETP):c.259G>T (p.Ala87Ser)	CETP (A87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266372	NM_000078.3(CETP):c.268C>A (p.Gln90Lys)	CETP (Q90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143281	NM_000078.3(CETP):c.293C>G (p.Ser98Cys)	CETP (S98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143282	NM_000078.3(CETP):c.314A>G (p.Asn105Ser)	CETP (N105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365928	NM_000078.3(CETP):c.451G>A (p.Gly151Ser)	CETP (G151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143283	NM_000078.3(CETP):c.458T>G (p.Val153Gly)	CETP (V153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 319979	NM_000078.3(CETP):c.466G>A (p.Asp156Asn)	CETP (D156N)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 2617649	NM_000078.3(CETP):c.597+5G>A	CETP, LOC130059064	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2301233	NM_000078.3(CETP):c.664A>T (p.Ile222Phe)	CETP (I222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250446	NM_000078.3(CETP):c.718A>G (p.Ile240Val)	CETP (I240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603651	NM_000078.3(CETP):c.785_788del (p.Leu262fs)	CETP (L262fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2242003	NM_000078.3(CETP):c.823T>C (p.Ser275Pro)	CETP (S275P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1804584	NM_000078.3(CETP):c.869T>C (p.Leu290Pro)	CETP (L290P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2530842	NM_000078.3(CETP):c.872C>A (p.Ala291Asp)	CETP (A291D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539456	NM_000078.3(CETP):c.895C>T (p.Arg299Cys)	CETP (R299C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2615296	NM_000078.3(CETP):c.959C>A (p.Thr320Asn)	CETP (T320N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143284	NM_000078.3(CETP):c.988G>A (p.Gly330Ser)	CETP (G330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371140	NM_000078.3(CETP):c.1039A>G (p.Lys347Glu)	CETP (K287E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3266373	NM_000078.3(CETP):c.1052A>T (p.Gln351Leu)	CETP (Q351L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238319	NM_000078.3(CETP):c.1070T>G (p.Val357Gly)	CETP (V357G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553484	NM_000078.3(CETP):c.1073A>G (p.Asn358Ser)	CETP (N298S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257565	NM_000078.3(CETP):c.1074T>A (p.Asn358Lys)	CETP (N298K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705271	NM_000078.3(CETP):c.1103del (p.Pro368fs)	CETP (P308fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3143279	NM_000078.3(CETP):c.1147G>C (p.Asp383His)	CETP (D323H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316726	NM_000078.3(CETP):c.1193T>C (p.Phe398Ser)	CETP (F338S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2987349	NM_000078.3(CETP):c.1244C>G (p.Thr415Ser)	CETP (T415S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 884718	NM_000078.3(CETP):c.1253G>C (p.Ser418Thr)	CETP (S358T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3143280	NM_000078.3(CETP):c.1288A>G (p.Ile430Val)	CETP (I430V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623272	NM_000078.3(CETP):c.1298T>G (p.Val433Gly)	CETP (V373G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514302	NM_000078.3(CETP):c.1361G>A (p.Gly454Asp)	CETP (G394D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481952	NM_000078.3(CETP):c.1407+5G>A	CETP	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2995729	NM_000078.3(CETP):c.1444G>A (p.Glu482Lys)	CETP (E482K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2339800	NM_000078.3(CETP):c.1454T>C (p.Leu485Pro)	CETP (L425P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 38