"Diasio Lab, Mayo Clinic"[submitter] AND "DPYD"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100061	NM_000110.4(DPYD):c.*961A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 100062	NM_000110.4(DPYD):c.*911A>G	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 100063	NM_000110.4(DPYD):c.*900T>C	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely benign
Select item 100064	NM_000110.4(DPYD):c.*780C>T	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GBenign
Select item 100065	NM_000110.4(DPYD):c.*768G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GBenign
Select item 100066	NM_000110.4(DPYD):c.*736A>T	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 100067	NM_000110.4(DPYD):c.*573G>A	DPYD	Single nucleotide variant (3 prime UTR variant)	Dihydropyrimidine dehydrogenase deficiency	GBenign
Select item 100068	NM_000110.4(DPYD):c.*173T>C	DPYD	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 100069	NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)	DPYD (P1023T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 100070	NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr)	DPYD (C996Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 100071	NM_000110.4(DPYD):c.2766+19A>G	DPYD-AS1, DPYD	Single nucleotide variant (intron variant)	Dihydropyrimidine dehydrogenase deficiency	GLikely benign
Select item 100072	NM_000110.4(DPYD):c.2598A>G (p.Pro866=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 100073	NM_000110.4(DPYD):c.2532A>G (p.Glu844=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 100074	NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser)	DPYD, DPYD-AS1 (A777S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100075	NM_000110.4(DPYD):c.2301G>T (p.Gly767=)	DPYD, DPYD-AS1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 100076	NM_000110.4(DPYD):c.2300-39G>A	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100077	NM_000110.4(DPYD):c.2300-40G>T	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100078	NM_000110.4(DPYD):c.2300-109T>C	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100079	NM_000110.4(DPYD):c.2299+100C>T	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided	Gnot provided
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 100081	NM_000110.4(DPYD):c.2180-44T>C	DPYD, DPYD-AS1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100082	NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr)	DPYD-AS1, DPYD (A721T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 100083	NM_000110.4(DPYD):c.2058+42A>G	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100084	NM_000110.4(DPYD):c.2049C>G (p.Ala683=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 100086	NM_000110.4(DPYD):c.1974+75A>G	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response
Select item 100087	NM_000110.4(DPYD):c.1905C>T (p.Asn635=)	DPYD	Single nucleotide variant (synonymous variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 100088	NM_000110.4(DPYD):c.1896T>C (p.Phe632=)	DPYD	Single nucleotide variant (synonymous variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 100089	NM_000110.4(DPYD):c.1741-65C>T	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100090	NM_000110.4(DPYD):c.1740+40A>G	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100091	NM_000110.4(DPYD):c.1740+39C>T	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 88975	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	DPYD (I560S)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
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 100093	NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg)	DPYD (G539R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 100094	NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	DPYD (S534N)	Single nucleotide variant (missense variant)	fluorouracil response - Toxicity +1 more	Gdrug response
Select item 100095	NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser)	DPYD (P519S)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GUncertain significance
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 100097	NM_000110.4(DPYD):c.1371C>T (p.Asn457=)	DPYD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 100098	NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg)	DPYD (P453R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 100099	NM_000110.4(DPYD):c.1340-106T>A	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100100	NM_000110.4(DPYD):c.1236G>A (p.Glu412=)	DPYD	Single nucleotide variant (synonymous variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 100101	NM_000110.4(DPYD):c.1218G>A (p.Met406Ile)	DPYD (M406I)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 100102	NM_000110.4(DPYD):c.1129-11T>G	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100103	NM_000110.4(DPYD):c.1129-15T>C	DPYD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 100104	NM_000110.4(DPYD):c.959-51T>C	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100105	NM_000110.4(DPYD):c.958+134T>G	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100106	NM_000110.4(DPYD):c.958+36A>G	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100107	NM_000110.4(DPYD):c.887G>A (p.Gly296Asp)	DPYD (G296D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100108	NM_000110.4(DPYD):c.869A>G (p.Lys290Arg)	DPYD (K290R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100109	NM_000110.4(DPYD):c.851-31C>T	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100110	NM_000110.4(DPYD):c.850+90T>C	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100111	NM_000110.4(DPYD):c.850+41T>C	DPYD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100112	NM_000110.4(DPYD):c.763-118A>G	DPYD	Single nucleotide variant (intron variant)	not provided	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 100114	NM_000110.4(DPYD):c.542A>C (p.Lys181Thr)	DPYD (K181T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100115	NM_000110.4(DPYD):c.525G>A (p.Ser175=)	DPYD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 100117	NM_000110.4(DPYD):c.483+18G>A	DPYD	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 100118	NM_000110.4(DPYD):c.269G>T (p.Ser90Ile)	DPYD (S90I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100119	NM_000110.4(DPYD):c.265A>T (p.Lys89Ter)	DPYD (K89*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 100120	NM_000110.4(DPYD):c.234-81G>A	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100121	NM_000110.4(DPYD):c.233+36T>C	DPYD	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100122	NM_000110.4(DPYD):c.151-69G>A	DPYD	Single nucleotide variant (intron variant)	DPYD-related condition	GLikely benign
Select item 100123	NM_000110.4(DPYD):c.85= (p.Cys29=)	DPYD	Single nucleotide variant (no sequence alteration)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65