ClinVar for Gene (Select 1071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369355	NM_000078.3(CETP):c.1159A>G (p.Thr387Ala)	CETP (T327A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3266372	NM_000078.3(CETP):c.268C>A (p.Gln90Lys)	CETP (Q90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
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 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 3143283	NM_000078.3(CETP):c.458T>G (p.Val153Gly)	CETP (V153G)	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 3143281	NM_000078.3(CETP):c.293C>G (p.Ser98Cys)	CETP (S98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
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 3021689	NM_000078.3(CETP):c.233+15G>A	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020589	NM_000078.3(CETP):c.751-17G>A	CETP	Single nucleotide variant (intron variant)	not provided	GLikely 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 3019020	NM_000078.3(CETP):c.1317G>A (p.Met439Ile)	CETP (M439I +1 more)	Single nucleotide variant (missense variant)	not provided	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 3005180	NM_000078.3(CETP):c.191A>G (p.Lys64Arg)	CETP (K64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3003432	NM_000078.3(CETP):c.596A>T (p.Gln199Leu)	CETP, LOC130059064 (Q199L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999530	NM_000078.3(CETP):c.1135A>T (p.Thr379Ser)	CETP (T379S +1 more)	Single nucleotide variant (missense variant)	not provided	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 2994032	NM_000078.3(CETP):c.751-18C>T	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993326	NM_000078.3(CETP):c.867G>A (p.Ser289=)	CETP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992855	NM_000078.3(CETP):c.931-9T>C	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2985887	NM_000078.3(CETP):c.231C>T (p.His77=)	CETP	Single nucleotide variant (synonymous variant)	not provided	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 2981627	NM_000078.3(CETP):c.1432T>C (p.Phe478Leu)	CETP (F418L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980442	NM_000078.3(CETP):c.1106G>A (p.Arg369His)	CETP (R369H +1 more)	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 2978267	NM_000078.3(CETP):c.396C>T (p.Phe132=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977922	NM_000078.3(CETP):c.715G>A (p.Val239Ile)	CETP (V239I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968897	NM_000078.3(CETP):c.1183A>G (p.Lys395Glu)	CETP (K335E +1 more)	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 2961363	NM_000078.3(CETP):c.1214+20G>C	CETP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905588	NM_000078.3(CETP):c.990C>T (p.Gly330=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899556	NM_000078.3(CETP):c.1065C>T (p.Val355=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2891374	NM_000078.3(CETP):c.183G>A (p.Thr61=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891132	NM_000078.3(CETP):c.683T>C (p.Ile228Thr)	CETP (I228T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2864541	NM_000078.3(CETP):c.935T>A (p.Val312Glu)	CETP (V252E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835311	NM_000078.3(CETP):c.1326C>G (p.Leu442=)	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 2802652	NM_000078.3(CETP):c.527+5G>A	CETP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2796085	NM_000078.3(CETP):c.992G>T (p.Gly331Val)	CETP (G271V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791350	NM_000078.3(CETP):c.946T>C (p.Trp316Arg)	CETP (W256R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780351	NM_000078.3(CETP):c.841T>C (p.Trp281Arg)	CETP (W281R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2769073	NM_000078.3(CETP):c.877G>C (p.Val293Leu)	CETP (V293L)	Single nucleotide variant (missense variant +1 more)	not provided	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 2736358	NM_000078.3(CETP):c.461G>A (p.Arg154Gln)	CETP (R154Q)	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 2722544	NM_000078.3(CETP):c.1133A>G (p.Tyr378Cys)	CETP (Y318C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721489	NM_000078.3(CETP):c.1107C>A (p.Arg369=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2716720	NM_000078.3(CETP):c.1263C>T (p.Ser421=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2715735	NM_000078.3(CETP):c.1362C>A (p.Gly454=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694893	NM_000078.3(CETP):c.1192T>G (p.Phe398Val)	CETP (F398V +1 more)	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 2627414	NM_000078.3(CETP):c.23C>T (p.Thr8Ile)	CETP (T8I)	Single nucleotide variant (missense variant)	Hyperalphalipoproteinemia 1	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 2617649	NM_000078.3(CETP):c.597+5G>A	CETP, LOC130059064	Single nucleotide variant (intron variant)	not specified	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 2603651	NM_000078.3(CETP):c.785_788del (p.Leu262fs)	CETP (L262fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2577704	NM_000078.3(CETP):c.1022A>G (p.His341Arg)	CETP (H281R +1 more)	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 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 2539456	NM_000078.3(CETP):c.895C>T (p.Arg299Cys)	CETP (R299C)	Single nucleotide variant (missense variant +1 more)	not specified +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 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 2439924	NM_000078.3(CETP):c.544C>T (p.Gln182Ter)	CETP (Q182*)	Single nucleotide variant (nonsense)	Hyperalphalipoproteinemia 1	GUncertain significance
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
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 2365928	NM_000078.3(CETP):c.451G>A (p.Gly151Ser)	CETP (G151S)	Single nucleotide variant (missense variant)	not specified	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
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 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 2302010	NM_000078.3(CETP):c.242T>A (p.Ile81Asn)	CETP (I81N)	Single nucleotide variant (missense 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 2299401	NM_000078.3(CETP):c.44C>T (p.Ala15Val)	CETP (A15V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2250446	NM_000078.3(CETP):c.718A>G (p.Ile240Val)	CETP (I240V)	Single nucleotide variant (missense variant)	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 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 2226144	NM_000078.3(CETP):c.200T>A (p.Met67Lys)	CETP (M67K)	Single nucleotide variant (missense variant)	not specified	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 2175132	NM_000078.3(CETP):c.528G>A (p.Glu176=)	CETP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2174474	NM_000078.3(CETP):c.1244C>T (p.Thr415Ile)	CETP (T415I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173132	NM_000078.3(CETP):c.1162G>A (p.Val388Ile)	CETP (V388I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167956	NM_000078.3(CETP):c.440-8C>G	CETP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2162240	NM_000078.3(CETP):c.369-10C>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

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