"Genome-Nilou Lab"[submitter] AND "DPYD"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 551659	NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu)	DPYD (K958E)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
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 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 371215	NM_000110.4(DPYD):c.2622+1G>A	DPYD, DPYD-AS1	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 551707	NM_000110.4(DPYD):c.2579del (p.Gln860fs)	DPYD, DPYD-AS1 (Q860fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 451401	NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr)	DPYD, DPYD-AS1 (I843T)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 558527	NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)	DPYD, DPYD-AS1 (T793I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 370760	NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	DPYD, DPYD-AS1 (R759*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 735872	NM_000110.4(DPYD):c.2180-3T>C	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 298285	NM_000110.4(DPYD):c.2180-11G>A	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	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 188871	NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)	DPYD (L682fs)	Deletion (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	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 813354	NM_000110.4(DPYD):c.1977_1983del	DPYD	Deletion (splice acceptor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 2429124	NM_000110.4(DPYD):c.1905+1G>C	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370307	NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)	DPYD (W621*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 550673	NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)	DPYD (M599T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 371053	NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	DPYD (R561*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 100092	NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)	DPYD (I543V)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	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 298292	NM_000110.4(DPYD):c.1525-11G>A	DPYD	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency	GBenign/Likely benign
Select item 100096	NM_000110.4(DPYD):c.1524+16C>A	DPYD	Single nucleotide variant (intron variant)	not specified +1 more	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 371469	NM_000110.4(DPYD):c.1379dup (p.Leu461fs)	DPYD (L461fs)	Duplication (frameshift variant)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
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 100098	NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg)	DPYD (P453R)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GUncertain significance
Select item 876977	NM_000110.4(DPYD):c.1349C>T (p.Ala450Val)	DPYD (A450V)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	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 585800	NM_000110.4(DPYD):c.1310C>T (p.Ala437Val)	DPYD (A437V)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	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 973462	NM_000110.4(DPYD):c.1139C>G (p.Ala380Gly)	DPYD (A380G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 100103	NM_000110.4(DPYD):c.1129-15T>C	DPYD	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GBenign
Select item 370309	NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	DPYD (I370fs)	Microsatellite (frameshift variant)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 552935	NM_000110.4(DPYD):c.1108A>G (p.Ile370Val)	DPYD (I370V)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	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 1328879	NM_000110.4(DPYD):c.868A>G (p.Lys290Glu)	DPYD (K290E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 585804	NM_000110.4(DPYD):c.681-8C>T	DPYD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 370661	NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)	DPYD (E221*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 1321453	NM_000110.4(DPYD):c.545T>A (p.Met182Lys)	DPYD (M182K)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 100116	NM_000110.4(DPYD):c.496A>G (p.Met166Val)	DPYD (M166V)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 452082	NM_000110.4(DPYD):c.345G>C (p.Met115Ile)	DPYD (M115I)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GUncertain significance
Select item 495550	NM_000110.4(DPYD):c.299_302del (p.Phe100fs)	DPYD (F100fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 804763	NM_000110.4(DPYD):c.274C>G (p.Pro92Ala)	DPYD (P92A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028072	NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	DPYD (P86L)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 554296	NM_000110.4(DPYD):c.233+1G>T	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic
Select item 370660	NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	DPYD (R70*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 502676	NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)	DPYD	Deletion (nonsense)	Dihydropyrimidine dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 188848	NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	DPYD (R21*)	Single nucleotide variant (nonsense)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 370476	NM_000110.4(DPYD):c.3G>A (p.Met1Ile)	DPYD, LOC129930998 (M1I)	Single nucleotide variant (missense variant +1 more)	Dihydropyrimidine dehydrogenase deficiency	GLikely pathogenic

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Items: 55