"Baylor Genetics"[submitter] AND "DPYD-AS1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 371437	NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter)	DPYD, DPYD-AS1 (Q852*)	Single nucleotide variant (nonsense)	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 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 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 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 2674910	NM_000110.4(DPYD):c.2338_2339del (p.Ser780fs)	DPYD, DPYD-AS1 (S780fs)	Deletion (frameshift variant)	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 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 3241368	NM_000110.4(DPYD):c.2209del (p.Thr737fs)	DPYD, DPYD-AS1 (T737fs)	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 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 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 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 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 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

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Items: 22