DPYD[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876878	NM_000110.4(DPYD):c.*1189G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 876879	NM_000110.4(DPYD):c.*1153A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 876880	NM_000110.4(DPYD):c.*1062A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 876881	NM_000110.4(DPYD):c.*1050A>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298270	NM_000110.4(DPYD):c.*1046C>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 874077	NM_000110.4(DPYD):c.*1010T>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 874078	NM_000110.4(DPYD):c.*1000A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 100061	NM_000110.4(DPYD):c.*961A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 100062	NM_000110.4(DPYD):c.*911A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 100063	NM_000110.4(DPYD):c.*900T>C	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely benign
Select item 298271	NM_000110.4(DPYD):c.*852C>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298272	NM_000110.4(DPYD):c.*783G>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 100064	NM_000110.4(DPYD):c.*780C>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GBenign
Select item 100065	NM_000110.4(DPYD):c.*768G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GBenign
Select item 100066	NM_000110.4(DPYD):c.*736A>T	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 875008	NM_000110.4(DPYD):c.*673G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298273	NM_000110.4(DPYD):c.*665G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 875009	NM_000110.4(DPYD):c.*635T>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 875010	NM_000110.4(DPYD):c.*626G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298274	NM_000110.4(DPYD):c.*586C>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 100067	NM_000110.4(DPYD):c.*573G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GBenign
Select item 875011	NM_000110.4(DPYD):c.*503A>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 875933	NM_000110.4(DPYD):c.*476G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 875934	NM_000110.4(DPYD):c.*458T>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298275	NM_000110.4(DPYD):c.*432T>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 875935	NM_000110.4(DPYD):c.*416C>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 875936	NM_000110.4(DPYD):c.*390A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298276	NM_000110.4(DPYD):c.*282A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298277	NM_000110.4(DPYD):c.*274T>C	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 298278	NM_000110.4(DPYD):c.*242G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298279	NM_000110.4(DPYD):c.*193A>C	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 100068	NM_000110.4(DPYD):c.*173T>C	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 876924	NM_000110.4(DPYD):c.*159A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 876925	NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser)	DPYD (P1023S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 100069	NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)	DPYD (P1023T)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3085646	NM_000110.4(DPYD):c.3062T>C (p.Val1021Ala)	DPYD (V1021A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1799278	NM_000110.4(DPYD):c.3052C>G (p.Pro1018Ala)	DPYD (P1018A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1799224	NM_000110.4(DPYD):c.3049G>A (p.Val1017Ile)	DPYD (V1017I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429122	NM_000110.4(DPYD):c.3040_3041del (p.Lys1014fs)	DPYD (K1014fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1677117	NM_000110.4(DPYD):c.3034G>T (p.Glu1012Ter)	DPYD (E1012*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 555831	NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs)	DPYD (Y1011fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 1050568	NM_000110.4(DPYD):c.2998G>A (p.Asp1000Asn)	DPYD (D1000N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638935	NM_000110.4(DPYD):c.2994T>C (p.Ile998=)	DPYD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204228	NM_000110.4(DPYD):c.2992A>G (p.Ile998Val)	DPYD (I998V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 100070	NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr)	DPYD (C996Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 635267	NM_000110.4(DPYD):c.2983G>T (p.Val995Phe)	DPYD (V995F)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 1878270	NM_000110.4(DPYD):c.2976T>C (p.Cys992=)	DPYD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1314377	NM_000110.4(DPYD):c.2975G>A (p.Cys992Tyr)	DPYD (C992Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1798056	NM_000110.4(DPYD):c.2950G>A (p.Asp984Asn)	DPYD (D984N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561299	NM_000110.4(DPYD):c.2948C>T (p.Thr983Ile)	DPYD (T983I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 433	NM_000110.4(DPYD):c.2921A>T (p.Asp974Val)	DPYD (D974V)	Single nucleotide variant (missense variant)	Fluorouracil response	GPathogenic
Select item 715550	NM_000110.4(DPYD):c.2915A>G (p.Gln972Arg)	DPYD (Q972R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 552960	NM_000110.4(DPYD):c.2908-1G>A	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 1232963	NM_000110.4(DPYD):c.2908-58G>C	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222833	NM_000110.4(DPYD):c.2908-69A>G	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200576	NM_000110.4(DPYD):c.2908-208A>G	DPYD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255090	NM_000110.4(DPYD):c.2907+55C>T	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429123	NM_000110.4(DPYD):c.2907+9C>G	DPYD	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2674944	NM_000110.4(DPYD):c.2907+1G>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 551659	NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu)	DPYD (K958E)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 2368190	NM_000110.4(DPYD):c.2864A>G (p.Asn955Ser)	DPYD (N955S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622839	NM_000110.4(DPYD):c.2848G>A (p.Glu950Lys)	DPYD (E950K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 88974	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	DPYD (D949V)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 2581397	NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr)	DPYD (I948T)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 1796716	NM_000110.4(DPYD):c.2840T>C (p.Met947Thr)	DPYD (M947T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2674948	NM_000110.4(DPYD):c.2836del (p.Ala946fs)	DPYD (A946fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674918	NM_000110.4(DPYD):c.2832dup (p.Val945fs)	DPYD (V945fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 558312	NM_000110.4(DPYD):c.2822T>C (p.Val941Ala)	DPYD (V941A)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 876926	NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp)	DPYD (G936D)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 3241364	NM_000110.4(DPYD):c.2788C>T (p.Gln930Ter)	DPYD (Q930*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 429794	NM_000110.4(DPYD):c.2767-1G>A	DPYD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1269305	NM_000110.4(DPYD):c.2767-333G>A	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260675	NM_000110.4(DPYD):c.2058+264C>T	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249429	NM_000110.4(DPYD):c.2058+263G>A	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222617	NM_000110.4(DPYD):c.2058+230A>G	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204776	NM_000110.4(DPYD):c.2058+157G>A	DPYD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266890	NM_000110.4(DPYD):c.2058+145T>C	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228303	NM_000110.4(DPYD):c.2058+101T>C	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100083	NM_000110.4(DPYD):c.2058+42A>G	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 370923	NM_000110.4(DPYD):c.2058+1G>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 188871	NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)	DPYD (L682fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 100084	NM_000110.4(DPYD):c.2049C>G (p.Ala683=)	DPYD	Single nucleotide variant (synonymous variant)	DPYD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1784995	NM_000110.4(DPYD):c.2047G>A (p.Ala683Thr)	DPYD (A683T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 371596	NM_000110.4(DPYD):c.2039dup (p.Met680fs)	DPYD (M680fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3230325	NM_000110.4(DPYD):c.2023A>G (p.Met675Val)	DPYD (M675V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 371160	NM_000110.4(DPYD):c.2003del (p.Asn668fs)	DPYD (N668fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 1256250	NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser)	DPYD (A664S)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GUncertain significance
Select item 2268284	NM_000110.4(DPYD):c.1984G>A (p.Ala662Thr)	DPYD (A662T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 813354	NM_000110.4(DPYD):c.1977_1983del	DPYD	Deletion (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3273701	NM_000110.4(DPYD):c.1975G>C (p.Asp659His)	DPYD (D659H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1286217	NM_000110.4(DPYD):c.1975-213G>C	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100086	NM_000110.4(DPYD):c.1974+75A>G	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450621	NM_000110.4(DPYD):c.1974+1G>A	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 370712	NM_000110.4(DPYD):c.1970del (p.Ser657fs)	DPYD (S657fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2397850	NM_000110.4(DPYD):c.1937A>G (p.Asn646Ser)	DPYD (N646S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2674953	NM_000110.4(DPYD):c.1935C>A (p.Tyr645Ter)	DPYD (Y645*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 1209996	NM_000110.4(DPYD):c.1925T>C (p.Met642Thr)	DPYD (M642T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3085642	NM_000110.4(DPYD):c.1915G>T (p.Ala639Ser)	DPYD (A639S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587441	NM_000110.4(DPYD):c.1907T>C (p.Ile636Thr)	DPYD (I636T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782389	NM_000110.4(DPYD):c.1906A>C (p.Ile636Leu)	DPYD (I636L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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