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Items: 1 to 100 of 511

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129930966, LOC129930967
+548 more
Copy number gain
See cases
GPathogenic
DPYD, DPYD-AS1
+28 more
Copy number loss
See cases
GUncertain significance
DPYD, DPYD-AS1
+8 more
Copy number loss
See cases
GPathogenic
DPYD, DPYD-AS1
+3 more
Copy number loss
See cases
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
not provided
Gnot provided
DPYD
Single nucleotide variant
(3 prime UTR variant)
not provided
Gnot provided
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely benign
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GBenign
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GBenign
DPYD
Single nucleotide variant
(3 prime UTR variant)
not provided
Gnot provided
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GBenign
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GBenign
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(3 prime UTR variant)
not provided
Gnot provided
DPYD
Single nucleotide variant
(3 prime UTR variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(P1023S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DPYD
(P1023T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DPYD
(V1021A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DPYD
(P1018A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(V1017I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(K1014fs)
Deletion
(frameshift variant)
not specified
GUncertain significance
DPYD
(E1012*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
DPYD
(Y1011fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(D1000N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DPYD
(I998V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(C996Y)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DPYD
(V995F)
Single nucleotide variant
(missense variant)
fluorouracil response - Other
Gdrug response
DPYD
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DPYD
(C992Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYD
(D984N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(T983I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(D974V)
Single nucleotide variant
(missense variant)
Fluorouracil response
GPathogenic
DPYD
(Q972R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(intron variant)
not provided
GBenign
DPYD
Single nucleotide variant
(intron variant)
not provided
GBenign
DPYD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DPYD
Single nucleotide variant
(intron variant)
not provided
GBenign
DPYD
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(K958E)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(N955S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(E950K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(D949V)
Single nucleotide variant
(missense variant)
fluorouracil response - Other
+3 more
Gdrug response
DPYD
(I948T)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(M947T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD
(A946fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(V945fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(V941A)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(G936D)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
DPYD
Single nucleotide variant
(intron variant)
not provided
GBenign
DPYD-AS1, DPYD
Single nucleotide variant
(intron variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely benign
DPYD-AS1, DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(T920P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DPYD, DPYD-AS1
(P919fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(R916fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(R916fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(C911fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(K908*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(V902A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DPYD, DPYD-AS1
(K894*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(E892*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(R886H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DPYD, DPYD-AS1
(Q885R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD, DPYD-AS1
(Q885*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(E884*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GPathogenic
DPYD, DPYD-AS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
DPYD, DPYD-AS1
(S878R)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD, DPYD-AS1
(S878G)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD, DPYD-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DPYD, DPYD-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DPYD, DPYD-AS1
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(R867C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DPYD, DPYD-AS1
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
DPYD, DPYD-AS1
(V865F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DPYD, DPYD-AS1
(P864fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
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