1806[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 148454	GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1	DPYD, DPYD-AS1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 59973	GRCh38/hg38 1p21.3(chr1:96554406-97919058)x1	DPYD, DPYD-AS1 +8 more	Copy number loss	See cases	GPathogenic
Select item 144271	GRCh38/hg38 1p21.3(chr1:96800847-97758063)x1	DPYD, DPYD-AS1 +3 more	Copy number loss	See cases	GUncertain significance
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 +1 more	GConflicting classifications of pathogenicity
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 3351245	NM_000110.4(DPYD):c.2981G>C (p.Ser994Thr)	DPYD (S994T)	Single nucleotide variant (missense variant)	DPYD-related disorder	GUncertain significance
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 3364660	NM_000110.4(DPYD):c.2777G>A (p.Gly926Glu)	DPYD (G926E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 100071	NM_000110.4(DPYD):c.2766+19A>G	DPYD-AS1, DPYD	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely benign
Select item 2674904	NM_000110.4(DPYD):c.2766+1G>A	DPYD, DPYD-AS1	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 298280	NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro)	DPYD, DPYD-AS1 (T920P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 370956	NM_000110.4(DPYD):c.2754del (p.Pro919fs)	DPYD, DPYD-AS1 (P919fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 371384	NM_000110.4(DPYD):c.2748del (p.Arg916fs)	DPYD, DPYD-AS1 (R916fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 1722331	NM_000110.4(DPYD):c.2746del (p.Arg916fs)	DPYD, DPYD-AS1 (R916fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674914	NM_000110.4(DPYD):c.2732_2733del (p.Cys911fs)	DPYD, DPYD-AS1 (C911fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 550624	NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter)	DPYD, DPYD-AS1 (K908*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2236534	NM_000110.4(DPYD):c.2705T>C (p.Val902Ala)	DPYD, DPYD-AS1 (V902A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 370928	NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter)	DPYD, DPYD-AS1 (K894*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3339417	NM_000110.4(DPYD):c.2678A>G (p.Asn893Ser)	DPYD, DPYD-AS1 (N893S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2674908	NM_000110.4(DPYD):c.2674G>T (p.Glu892Ter)	DPYD, DPYD-AS1 (E892*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3353132	NM_000110.4(DPYD):c.2673A>G (p.Ala891=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	DPYD-related disorder	GLikely benign
Select item 437	NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	DPYD, DPYD-AS1 (R886H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2453342	NM_000110.4(DPYD):c.2654A>G (p.Gln885Arg)	DPYD, DPYD-AS1 (Q885R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2674942	NM_000110.4(DPYD):c.2653C>T (p.Gln885Ter)	DPYD, DPYD-AS1 (Q885*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 1805301	NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)	DPYD, DPYD-AS1 (E884*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic
Select item 3230331	NM_000110.4(DPYD):c.2646T>C (p.Tyr882=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 874134	NM_000110.4(DPYD):c.2634T>G (p.Ser878Arg)	DPYD, DPYD-AS1 (S878R)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 298281	NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly)	DPYD, DPYD-AS1 (S878G)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
Select item 3273700	NM_000110.4(DPYD):c.2623A>C (p.Lys875Gln)	DPYD, DPYD-AS1 (K875Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764540	NM_000110.4(DPYD):c.2623-8C>T	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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