"Ambry Genetics"[submitter] AND "DPYS"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1356436	NM_001385.3(DPYS):c.1478A>C (p.Tyr493Ser)	DPYS (Y493S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2599305	NM_001385.3(DPYS):c.1436G>A (p.Arg479Gln)	DPYS (R479Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085650	NM_001385.3(DPYS):c.1418A>G (p.Tyr473Cys)	DPYS (Y473C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1426352	NM_001385.3(DPYS):c.1351G>A (p.Gly451Arg)	DPYS (G451R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2341857	NM_001385.3(DPYS):c.1222C>T (p.Pro408Ser)	DPYS (P408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609437	NM_001385.3(DPYS):c.1072G>A (p.Val358Ile)	DPYS (V358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187356	NM_001385.3(DPYS):c.1040A>G (p.Asn347Ser)	DPYS (N347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2410766	NM_001385.3(DPYS):c.925G>A (p.Asp309Asn)	DPYS (D309N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085658	NM_001385.3(DPYS):c.898C>T (p.Pro300Ser)	DPYS (P300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213094	NM_001385.3(DPYS):c.895C>T (p.Pro299Ser)	DPYS (P299S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510482	NM_001385.3(DPYS):c.838G>C (p.Asp280His)	DPYS (D280H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620539	NM_001385.3(DPYS):c.836C>T (p.Thr279Ile)	DPYS (T279I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 361450	NM_001385.3(DPYS):c.817A>G (p.Ile273Val)	DPYS (I273V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2387591	NM_001385.3(DPYS):c.758C>G (p.Ser253Cys)	DPYS (S253C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338639	NM_001385.3(DPYS):c.707T>C (p.Ile236Thr)	DPYS (I236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085657	NM_001385.3(DPYS):c.684G>C (p.Glu228Asp)	DPYS (E228D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085656	NM_001385.3(DPYS):c.629G>A (p.Gly210Glu)	DPYS (G210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1421032	NM_001385.3(DPYS):c.554T>G (p.Ile185Ser)	DPYS (I185S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3085655	NM_001385.3(DPYS):c.551A>G (p.Glu184Gly)	DPYS (E184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085654	NM_001385.3(DPYS):c.505A>G (p.Met169Val)	DPYS (M169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273702	NM_001385.3(DPYS):c.491A>G (p.Tyr164Cys)	DPYS (Y164C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1382269	NM_001385.3(DPYS):c.418G>A (p.Asp140Asn)	DPYS (D140N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3273704	NM_001385.3(DPYS):c.403G>A (p.Val135Met)	DPYS (V135M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235246	NM_001385.3(DPYS):c.383A>T (p.Asp128Val)	DPYS (D128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085652	NM_001385.3(DPYS):c.356G>A (p.Ser119Asn)	DPYS (S119N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381371	NM_001385.3(DPYS):c.343G>A (p.Glu115Lys)	DPYS (E115K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2214487	NM_001385.3(DPYS):c.269C>T (p.Ala90Val)	DPYS (A90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601279	NM_001385.3(DPYS):c.256G>A (p.Gly86Ser)	DPYS (G86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191880	NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)	DPYS (Q85*)	Single nucleotide variant (nonsense)	Dihydropyrimidinase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2055236	NM_001385.3(DPYS):c.209T>C (p.Met70Thr)	DPYS (M70T)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2237196	NM_001385.3(DPYS):c.172C>T (p.Leu58Phe)	DPYS (L58F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950908	NM_001385.3(DPYS):c.140C>G (p.Ala47Gly)	DPYS (A47G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3273703	NM_001385.3(DPYS):c.136C>T (p.Pro46Ser)	DPYS (P46S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299371	NM_001385.3(DPYS):c.100G>A (p.Ala34Thr)	DPYS (A34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1924903	NM_001385.3(DPYS):c.73G>C (p.Val25Leu)	DPYS (V25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3085653	NM_001385.3(DPYS):c.43G>A (p.Val15Ile)	DPYS (V15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290933	NM_001385.3(DPYS):c.40G>A (p.Val14Met)	DPYS (V14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230163	NM_001385.3(DPYS):c.31G>T (p.Gly11Trp)	DPYS (G11W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 38