CETP[Gene Name] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 286

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 17526	NC_000016.10:g.56957451=	CETP	Single nucleotide variant	High density lipoprotein cholesterol level quantitative trait locus 10	Gassociation
Select item 369115	NM_000078.3(CETP):c.-65G>A	CETP	Single nucleotide variant	Hyperalphalipoproteinemia 1 +1 more	GBenign
Select item 2716898	NM_000078.3(CETP):c.17T>A (p.Val6Asp)	CETP (V6D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2627414	NM_000078.3(CETP):c.23C>T (p.Thr8Ile)	CETP (T8I)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1	GUncertain significance
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 319970	NM_000078.3(CETP):c.44C>G (p.Ala15Gly)	CETP (A15G)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1 +1 more	GBenign
Select item 319971	NM_000078.3(CETP):c.66C>A (p.Thr22=)	CETP	Single nucleotide variant (synonymous variant)	Hyperalphalipoproteinemia 1 +2 more	GBenign/Likely benign
Select item 3019180	NM_000078.3(CETP):c.68C>T (p.Ser23Leu)	CETP (S23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 80176	NM_000078.3(CETP):c.84C>T (p.Ile28=)	CETP	Single nucleotide variant (synonymous variant)	Hyperalphalipoproteinemia 1	GBenign
Select item 3003853	NM_000078.3(CETP):c.85G>A (p.Val29Met)	CETP (V29M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314022	NM_000078.3(CETP):c.89G>A (p.Cys30Tyr)	CETP (C30Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1358966	NM_000078.3(CETP):c.91C>T (p.Arg31Cys)	CETP (R31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 319972	NM_000078.3(CETP):c.92G>A (p.Arg31His)	CETP (R31H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2752495	NM_000078.3(CETP):c.108C>T (p.Ala36=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1204331	NM_000078.3(CETP):c.118+51C>A	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282916	NM_000078.3(CETP):c.118+95C>A	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267499	NM_000078.3(CETP):c.118+149T>C	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255212	NM_000078.3(CETP):c.118+202G>A	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214705	NM_000078.3(CETP):c.118+270C>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239762	NM_000078.3(CETP):c.118+279G>A	CETP	Single nucleotide variant (intron variant)	Coronary artery disorder +1 more	GBenign
Select item 1275353	NM_000078.3(CETP):c.119-274_119-273del	CETP	Deletion (intron variant)	not provided	GBenign
Select item 1257695	NM_000078.3(CETP):c.119-273C>A	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205094	NM_000078.3(CETP):c.119-215G>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865315	NM_000078.3(CETP):c.126C>G (p.His42Gln)	CETP (H42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324061	NM_000078.3(CETP):c.160C>T (p.Arg54Ter)	CETP (R54*)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GLikely pathogenic
Select item 1675625	NM_000078.3(CETP):c.165del (p.Ser56fs)	CETP (S56fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1371370	NM_000078.3(CETP):c.182C>T (p.Thr61Met)	CETP (T61M)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1 +1 more	GUncertain significance
Select item 2891374	NM_000078.3(CETP):c.183G>A (p.Thr61=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005180	NM_000078.3(CETP):c.191A>G (p.Lys64Arg)	CETP (K64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502548	NM_000078.3(CETP):c.193G>C (p.Ala65Pro)	CETP (A65P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 319973	NM_000078.3(CETP):c.214G>C (p.Val72Leu)	CETP (V72L)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1	GUncertain significance
Select item 2985887	NM_000078.3(CETP):c.231C>T (p.His77=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2184172	NM_000078.3(CETP):c.233+8G>A	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021689	NM_000078.3(CETP):c.233+15G>A	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266117	NM_000078.3(CETP):c.233+36A>G	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181969	NM_000078.3(CETP):c.233+197G>A	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213364	NM_000078.3(CETP):c.233+227G>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202787	NM_000078.3(CETP):c.234-273G>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274340	NM_000078.3(CETP):c.234-255C>T	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182498	NM_000078.3(CETP):c.234-152T>C	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 319974	NM_000078.3(CETP):c.239A>G (p.Gln80Arg)	CETP (Q80R)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1	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 1425659	NM_000078.3(CETP):c.259G>A (p.Ala87Thr)	CETP (A87T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690563	NM_000078.3(CETP):c.266del (p.Ser89fs)	CETP (S89fs)	Deletion (frameshift variant)	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 3143281	NM_000078.3(CETP):c.293C>G (p.Ser98Cys)	CETP (S98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 885590	NM_000078.3(CETP):c.311A>G (p.Gln104Arg)	CETP (Q104R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 319975	NM_000078.3(CETP):c.312G>A (p.Gln104=)	CETP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 3017848	NM_000078.3(CETP):c.315C>T (p.Asn105=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319976	NM_000078.3(CETP):c.316G>A (p.Val106Met)	CETP (V106M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2076689	NM_000078.3(CETP):c.337A>T (p.Thr113Ser)	CETP (T113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963051	NM_000078.3(CETP):c.358A>G (p.Thr120Ala)	CETP (T120A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186201	NM_000078.3(CETP):c.368+29T>C	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630753	NM_000078.3(CETP):c.369-16C>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116727	NM_000078.3(CETP):c.369-12G>A	CETP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2162240	NM_000078.3(CETP):c.369-10C>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926658	NM_000078.3(CETP):c.383A>T (p.Gln128Leu)	CETP (Q128L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724254	NM_000078.3(CETP):c.391G>A (p.Asp131Asn)	CETP (D131N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978267	NM_000078.3(CETP):c.396C>T (p.Phe132=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807643	NM_000078.3(CETP):c.439A>C (p.Thr147Pro)	CETP (T147P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978342	NM_000078.3(CETP):c.439+8_439+13dup	CETP	Duplication (intron variant)	not provided	GBenign
Select item 319977	NM_000078.3(CETP):c.439+11A>C	CETP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229341	NM_000078.3(CETP):c.440-103G>T	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2167956	NM_000078.3(CETP):c.440-8C>G	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 885591	NM_000078.3(CETP):c.443G>A (p.Cys148Tyr)	CETP (C148Y)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1 +2 more	GBenign/Likely benign
Select item 3042539	NM_000078.3(CETP):c.450T>C (p.Ser150=)	CETP	Single nucleotide variant (synonymous variant)	CETP-related disorder	GLikely benign
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 2985452	NM_000078.3(CETP):c.459G>A (p.Val153=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319978	NM_000078.3(CETP):c.460C>T (p.Arg154Trp)	CETP (R154W)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1 +1 more	GBenign/Likely benign
Select item 2736358	NM_000078.3(CETP):c.461G>A (p.Arg154Gln)	CETP (R154Q)	Single nucleotide variant (missense variant)	not provided	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 1483250	NM_000078.3(CETP):c.520G>A (p.Glu174Lys)	CETP (E174K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690859	NM_000078.3(CETP):c.525A>C (p.Arg175=)	CETP	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 2802652	NM_000078.3(CETP):c.527+5G>A	CETP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1281349	NM_000078.3(CETP):c.527+64T>C	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229319	NM_000078.3(CETP):c.527+67T>C	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272137	NM_000078.3(CETP):c.528-198A>G	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249684	NM_000078.3(CETP):c.528-56G>A	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989425	NM_000078.3(CETP):c.528-19T>A	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1922412	NM_000078.3(CETP):c.528-11G>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175132	NM_000078.3(CETP):c.528G>A (p.Glu176=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 319980	NM_000078.3(CETP):c.534G>A (p.Gly178=)	CETP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2439924	NM_000078.3(CETP):c.544C>T (p.Gln182Ter)	CETP (Q182*)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GUncertain significance
Select item 2071746	NM_000078.3(CETP):c.549G>A (p.Leu183=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577662	NM_000078.3(CETP):c.562A>G (p.Ile188Val)	CETP (I188V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2074162	NM_000078.3(CETP):c.597+2T>A	CETP, LOC130059064	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2617649	NM_000078.3(CETP):c.597+5G>A	CETP, LOC130059064	Single nucleotide variant (intron variant)	not specified	GUncertain significance

<< First< Prev

Page of 3