ClinVar for Gene (Select 1806) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3352671	NM_000110.4(DPYD):c.2195T>G (p.Val732Gly)	DPYD, DPYD-AS1 (V732G)	Single nucleotide variant (missense variant)	DPYD-related disorder	GLikely benign
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 3342367	NM_000110.4(DPYD):c.2300-1G>C	DPYD, DPYD-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3340231	NM_000110.4(DPYD):c.1850C>T (p.Thr617Met)	DPYD (T617M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340003	NM_000110.4(DPYD):c.2442+5T>C	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 3337051	NM_000110.4(DPYD):c.1865G>A (p.Cys622Tyr)	DPYD (C622Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336232	NC_000001.10:g.(97915780_97981281)_(98015301_98039315)dup	DPYD	Duplication	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 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 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 3273697	NM_000110.4(DPYD):c.726T>A (p.Asn242Lys)	DPYD (N242K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273696	NM_000110.4(DPYD):c.146G>T (p.Cys49Phe)	DPYD (C49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252435	NM_000110.4(DPYD):c.2347C>T (p.Arg783Cys)	DPYD, DPYD-AS1 (R783C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3241370	NM_000110.4(DPYD):c.622C>T (p.Arg208Ter)	DPYD (R208*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241369	NM_000110.4(DPYD):c.2440C>T (p.Gln814Ter)	DPYD, DPYD-AS1 (Q814*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241368	NM_000110.4(DPYD):c.2209del (p.Thr737fs)	DPYD, DPYD-AS1 (T737fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241367	NM_000110.4(DPYD):c.1568_1574delinsAC (p.Leu523fs)	DPYD (L523fs)	Indel (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241366	NM_000110.4(DPYD):c.1703G>A (p.Trp568Ter)	DPYD (W568*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241365	NM_000110.4(DPYD):c.2145del (p.Asp716fs)	DPYD, DPYD-AS1 (D716fs)	Deletion (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
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 3241363	NM_000110.4(DPYD):c.763-1G>A	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241362	NM_000110.4(DPYD):c.2548del (p.Asp850fs)	DPYD, DPYD-AS1 (D850fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241361	NM_000110.4(DPYD):c.1600_1610del (p.Ser534fs)	DPYD (S534fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241360	NM_000110.4(DPYD):c.2490C>A (p.Tyr830Ter)	DPYD, DPYD-AS1 (Y830*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241358	NM_000110.4(DPYD):c.1340-1G>A	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241357	NM_000110.4(DPYD):c.1896del (p.Pro633fs)	DPYD (P633fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241356	NM_000110.4(DPYD):c.574_575del (p.Leu192fs)	DPYD (L192fs)	Microsatellite (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3241355	NM_000110.4(DPYD):c.1492C>T (p.Gln498Ter)	DPYD (Q498*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 3239416	NM_000110.4(DPYD):c.1520T>C (p.Val507Ala)	DPYD (V507A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233733	NM_000110.4(DPYD):c.1700G>A (p.Gly567Glu)	DPYD (G567E)	Single nucleotide variant (missense variant)	not specified	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 3230333	NM_000110.4(DPYD):c.771C>T (p.Cys257=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 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 3230326	NM_000110.4(DPYD):c.21G>A (p.Lys7=)	DPYD, LOC129930998	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3230324	NM_000110.4(DPYD):c.1355G>A (p.Ser452Asn)	DPYD (S452N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3085647	NM_000110.4(DPYD):c.743T>C (p.Met248Thr)	DPYD (M248T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 3085642	NM_000110.4(DPYD):c.1915G>T (p.Ala639Ser)	DPYD (A639S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085641	NM_000110.4(DPYD):c.181G>C (p.Asp61His)	DPYD (D61H)	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 3085638	NM_000110.4(DPYD):c.1265A>G (p.Asp422Gly)	DPYD (D422G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069130	NM_000110.4(DPYD):c.1472A>T (p.Glu491Val)	DPYD (E491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062899	GRCh37/hg19 1p21.3(chr1:98021778-98645029)x1	DPYD, MIR137	Copy number loss	not specified	GUncertain significance
Select item 3041744	NM_000110.4(DPYD):c.483+604T>A	DPYD	Single nucleotide variant (synonymous variant +1 more)	DPYD-related disorder	GLikely benign
Select item 3025321	NM_000110.4(DPYD):c.1020T>G (p.Ala340=)	DPYD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2674955	NM_000110.4(DPYD):c.617del (p.Leu206fs)	DPYD (L206fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674954	NM_000110.4(DPYD):c.1502G>A (p.Trp501Ter)	DPYD (W501*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
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 2674951	NM_000110.4(DPYD):c.484-1G>A	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674950	NM_000110.4(DPYD):c.351_352del (p.Phe117_Ser118insTer)	DPYD	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674949	NM_000110.4(DPYD):c.1525-1G>C	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674948	NM_000110.4(DPYD):c.2836del (p.Ala946fs)	DPYD (A946fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674947	NM_000110.4(DPYD):c.959-2A>G	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674946	NM_000110.4(DPYD):c.95C>A (p.Ser32Ter)	DPYD (S32*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674945	NM_000110.4(DPYD):c.2059-2A>G	DPYD, DPYD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
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 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 2674941	NM_000110.4(DPYD):c.771C>A (p.Cys257Ter)	DPYD (C257*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674940	NM_000110.4(DPYD):c.680+1G>T	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674939	NM_000110.4(DPYD):c.1386del (p.Glu463fs)	DPYD (E463fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674938	NM_000110.4(DPYD):c.2146del (p.Asp716fs)	DPYD, DPYD-AS1 (D716fs)	Deletion (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674937	NM_000110.4(DPYD):c.966C>A (p.Cys322Ter)	DPYD (C322*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674936	NM_000110.4(DPYD):c.958+2T>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674934	NM_000110.4(DPYD):c.213_220delinsCAAT (p.Ala72fs)	DPYD (A72fs)	Indel (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674933	NM_000110.4(DPYD):c.1035dup (p.Asp346Ter)	DPYD (D346*)	Duplication (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674932	NM_000110.4(DPYD):c.2065G>T (p.Glu689Ter)	DPYD, DPYD-AS1 (E689*)	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674931	NM_000110.4(DPYD):c.1714dup (p.Leu572fs)	DPYD (L572fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674930	NM_000110.4(DPYD):c.1302del (p.Ile435fs)	DPYD (I435fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674929	NM_000110.4(DPYD):c.1905+2dup	DPYD	Duplication (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674928	NM_000110.4(DPYD):c.119_120delinsC (p.His40fs)	DPYD (H40fs)	Indel (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674926	NM_000110.4(DPYD):c.1525-2A>G	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674925	NM_000110.4(DPYD):c.2091G>A (p.Trp697Ter)	DPYD, DPYD-AS1 (W697*)	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674924	NM_000110.4(DPYD):c.697C>T (p.Gln233Ter)	DPYD (Q233*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674923	NM_000110.4(DPYD):c.2299+1G>A	DPYD, DPYD-AS1	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674922	NM_000110.4(DPYD):c.484-2A>G	DPYD	Single nucleotide variant (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674921	NM_000110.4(DPYD):c.993dup (p.Arg332fs)	DPYD (R332fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674920	NM_000110.4(DPYD):c.205G>T (p.Glu69Ter)	DPYD (E69*)	Single nucleotide variant (nonsense)	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 2674917	NM_000110.4(DPYD):c.2442+1G>C	DPYD, DPYD-AS1	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674916	NM_000110.4(DPYD):c.2059-1G>T	DPYD, DPYD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674915	NM_000110.4(DPYD):c.1780del (p.Thr594fs)	DPYD (T594fs)	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 2674913	NM_000110.4(DPYD):c.812del (p.Thr270_Leu271insTer)	DPYD	Deletion (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic
Select item 2674912	NM_000110.4(DPYD):c.1575C>G (p.Tyr525Ter)	DPYD (Y525*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674910	NM_000110.4(DPYD):c.2338_2339del (p.Ser780fs)	DPYD, DPYD-AS1 (S780fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2674909	NM_000110.4(DPYD):c.441_444dup (p.Pro149fs)	DPYD (P149fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
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 2674907	NM_000110.4(DPYD):c.544dup (p.Met182fs)	DPYD (M182fs)	Duplication (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic

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