"DPYD-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 287480	NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	DPYD-AS1, DPYD (T768K)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100080	NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)	DPYD, DPYD-AS1 (V732I)	Single nucleotide variant (missense variant)	fluorouracil response - Other +2 more	Gdrug response
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 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 298287	NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)	DPYD (A551T)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
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 100094	NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	DPYD (S534N)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 711962	NM_000110.4(DPYD):c.1494A>G (p.Gln498=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2634691	NM_000110.4(DPYD):c.1408C>T (p.Gln470Ter)	DPYD (Q470*)	Single nucleotide variant (nonsense)	DPYD-related disorder	GLikely pathogenic
Select item 876977	NM_000110.4(DPYD):c.1349C>T (p.Ala450Val)	DPYD (A450V)	Single nucleotide variant (missense variant)	DPYD-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2633588	NM_000110.4(DPYD):c.1340-2A>C	DPYD	Single nucleotide variant (splice acceptor variant)	DPYD-related disorder +1 more	GLikely pathogenic
Select item 635263	NM_000110.4(DPYD):c.1129-5923C>G	DPYD	Single nucleotide variant (intron variant)	fluorouracil response - Other +2 more	Gdrug response
Select item 2634579	NM_000110.4(DPYD):c.772G>A (p.Gly258Ser)	DPYD (G258S)	Single nucleotide variant (missense variant)	DPYD-related disorder	GUncertain significance
Select item 585804	NM_000110.4(DPYD):c.681-8C>T	DPYD	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 1288056	NM_000110.4(DPYD):c.680+139G>A	DPYD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 100113	NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	DPYD (Y186C)	Single nucleotide variant (missense variant)	fluorouracil response - Other +1 more	Gdrug response
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 3041744	NM_000110.4(DPYD):c.483+604T>A	DPYD	Single nucleotide variant (synonymous variant +1 more)	DPYD-related disorder	GLikely benign
Select item 2439928	NM_000110.4(DPYD):c.321+1G>A	DPYD	Single nucleotide variant (splice donor variant)	Dihydropyrimidine dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2635856	NM_000110.4(DPYD):c.272G>T (p.Cys91Phe)	DPYD (C91F)	Single nucleotide variant (missense variant)	DPYD-related disorder	GUncertain significance
Select item 100122	NM_000110.4(DPYD):c.151-69G>A	DPYD	Single nucleotide variant (intron variant)	DPYD-related disorder	GLikely benign

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Items: 22