"Ambry Genetics"[submitter] AND "DPYD"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2204228	NM_000110.4(DPYD):c.2992A>G (p.Ile998Val)	DPYD (I998V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1796716	NM_000110.4(DPYD):c.2840T>C (p.Met947Thr)	DPYD (M947T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2567626	NM_000110.4(DPYD):c.2593G>T (p.Val865Phe)	DPYD, DPYD-AS1 (V865F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3230330	NM_000110.4(DPYD):c.2586G>A (p.Gly862=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2346770	NM_000110.4(DPYD):c.2567C>T (p.Thr856Ile)	DPYD, DPYD-AS1 (T856I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3230329	NM_000110.4(DPYD):c.2550T>C (p.Asp850=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3230328	NM_000110.4(DPYD):c.2421T>C (p.His807=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3230327	NM_000110.4(DPYD):c.2416C>A (p.Leu806Ile)	DPYD, DPYD-AS1 (L806I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587443	NM_000110.4(DPYD):c.2335A>G (p.Thr779Ala)	DPYD, DPYD-AS1 (T779A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789580	NM_000110.4(DPYD):c.2320G>A (p.Ala774Thr)	DPYD, DPYD-AS1 (A774T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085645	NM_000110.4(DPYD):c.2314C>A (p.Pro772Thr)	DPYD, DPYD-AS1 (P772T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 287480	NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	DPYD, DPYD-AS1 (T768K)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 3273698	NM_000110.4(DPYD):c.2283A>G (p.Thr761=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1788965	NM_000110.4(DPYD):c.2283A>C (p.Thr761=)	DPYD-AS1, DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2231956	NM_000110.4(DPYD):c.2269G>C (p.Ala757Pro)	DPYD, DPYD-AS1 (A757P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567627	NM_000110.4(DPYD):c.2148T>A (p.Asp716Glu)	DPYD, DPYD-AS1 (D716E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1786173	NM_000110.4(DPYD):c.2115T>A (p.Pro705=)	DPYD, DPYD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3085643	NM_000110.4(DPYD):c.2080A>G (p.Ile694Val)	DPYD, DPYD-AS1 (I694V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521331	NM_000110.4(DPYD):c.2075G>T (p.Arg692Leu)	DPYD, DPYD-AS1 (R692L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412214	NM_000110.4(DPYD):c.2075G>A (p.Arg692Gln)	DPYD, DPYD-AS1 (R692Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency +2 more	GUncertain significance
Select item 298286	NM_000110.4(DPYD):c.2071G>T (p.Val691Leu)	DPYD, DPYD-AS1 (V691L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 100084	NM_000110.4(DPYD):c.2049C>G (p.Ala683=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency +1 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 3230325	NM_000110.4(DPYD):c.2023A>G (p.Met675Val)	DPYD (M675V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3273701	NM_000110.4(DPYD):c.1975G>C (p.Asp659His)	DPYD (D659H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response
Select item 100087	NM_000110.4(DPYD):c.1905C>T (p.Asn635=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2485396	NM_000110.4(DPYD):c.1820T>C (p.Phe607Ser)	DPYD (F607S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2453343	NM_000110.4(DPYD):c.1744A>G (p.Ile582Val)	DPYD (I582V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486730	NM_000110.4(DPYD):c.1729T>G (p.Ser577Ala)	DPYD (S577A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778899	NM_000110.4(DPYD):c.1728C>G (p.Phe576Leu)	DPYD (F576L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738289	NM_000110.4(DPYD):c.1701A>T (p.Gly567=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GLikely benign
Select item 1777949	NM_000110.4(DPYD):c.1683A>C (p.Arg561=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 88975	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	DPYD (I560S)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 1777694	NM_000110.4(DPYD):c.1671A>G (p.Thr557=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2524151	NM_000110.4(DPYD):c.1670C>T (p.Thr557Ile)	DPYD (T557I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1777250	NM_000110.4(DPYD):c.1650C>T (p.Ser550=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2567625	NM_000110.4(DPYD):c.1602T>C (p.Ser534=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2587442	NM_000110.4(DPYD):c.1554G>A (p.Lys518=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1327419	NM_000110.4(DPYD):c.1543G>A (p.Val515Ile)	DPYD (V515I)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 558310	NM_000110.4(DPYD):c.1538C>T (p.Ala513Val)	DPYD (A513V)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 2391206	NM_000110.4(DPYD):c.1524G>A (p.Gln508=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 2567628	NM_000110.4(DPYD):c.1519G>A (p.Val507Ile)	DPYD (V507I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 711962	NM_000110.4(DPYD):c.1494A>G (p.Gln498=)	DPYD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2235853	NM_000110.4(DPYD):c.1444G>A (p.Val482Ile)	DPYD (V482I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 521319	NM_000110.4(DPYD):c.1415G>A (p.Ser472Asn)	DPYD (S472N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085639	NM_000110.4(DPYD):c.1405A>T (p.Met469Leu)	DPYD (M469L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238929	NM_000110.4(DPYD):c.1390G>A (p.Val464Ile)	DPYD (V464I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771336	NM_000110.4(DPYD):c.1383C>T (p.Leu461=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 100097	NM_000110.4(DPYD):c.1371C>T (p.Asn457=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 3230324	NM_000110.4(DPYD):c.1355G>A (p.Ser452Asn)	DPYD (S452N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876978	NM_000110.4(DPYD):c.1337A>C (p.Lys446Thr)	DPYD (K446T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1769673	NM_000110.4(DPYD):c.1311C>T (p.Ala437=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769161	NM_000110.4(DPYD):c.1293C>T (p.Ala431=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2520613	NM_000110.4(DPYD):c.1278G>T (p.Met426Ile)	DPYD (M426I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2484175	NM_000110.4(DPYD):c.1273C>G (p.Gln425Glu)	DPYD (Q425E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085638	NM_000110.4(DPYD):c.1265A>G (p.Asp422Gly)	DPYD (D422G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874187	NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln)	DPYD (R410Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1738409	NM_000110.4(DPYD):c.1167A>G (p.Pro389=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2561298	NM_000110.4(DPYD):c.1140T>C (p.Ala380=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 985228	NM_000110.4(DPYD):c.1129A>G (p.Met377Val)	DPYD (M377V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298297	NM_000110.4(DPYD):c.1048T>C (p.Ser350Pro)	DPYD (S350P)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 298299	NM_000110.4(DPYD):c.995G>A (p.Arg332Gln)	DPYD (R332Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3085649	NM_000110.4(DPYD):c.994C>T (p.Arg332Trp)	DPYD (R332W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085648	NM_000110.4(DPYD):c.993A>G (p.Ile331Met)	DPYD (I331M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3230334	NM_000110.4(DPYD):c.966C>T (p.Cys322=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1764684	NM_000110.4(DPYD):c.879C>T (p.Ile293=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1764629	NM_000110.4(DPYD):c.877A>G (p.Ile293Val)	DPYD (I293V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255373	NM_000110.4(DPYD):c.841A>G (p.Ile281Val)	DPYD (I281V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 235464	NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)	DPYD (K259E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3230333	NM_000110.4(DPYD):c.771C>T (p.Cys257=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2207615	NM_000110.4(DPYD):c.770G>A (p.Cys257Tyr)	DPYD (C257Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760153	NM_000110.4(DPYD):c.768T>G (p.Ile256Met)	DPYD (I256M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085647	NM_000110.4(DPYD):c.743T>C (p.Met248Thr)	DPYD (M248T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273697	NM_000110.4(DPYD):c.726T>A (p.Asn242Lys)	DPYD (N242K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 554571	NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys)	DPYD (Y211C)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 806173	NM_000110.4(DPYD):c.623G>T (p.Arg208Leu)	DPYD (R208L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1750509	NM_000110.4(DPYD):c.591T>C (p.Pro197=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1750505	NM_000110.4(DPYD):c.591T>A (p.Pro197=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1749232	NM_000110.4(DPYD):c.570T>C (p.Ile190=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 100115	NM_000110.4(DPYD):c.525G>A (p.Ser175=)	DPYD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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