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Links from MedGen

Items: 1 to 100 of 261

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPYD
(L206fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(W501*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(Y645*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(A946fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(S32*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(Q885*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(C257*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(E463fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(D716fs)
Deletion
(non-coding transcript variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(C322*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(A72fs)
Indel
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(D346*)
Duplication
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(E689*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(L572fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(I435fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Duplication
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(H40fs)
Indel
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(W697*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(Q233*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(R332fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(E69*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(V945fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(T594fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(C911fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Deletion
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GPathogenic
DPYD
(Y525*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(S780fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(P149fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(E892*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(M182fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(W459fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Deletion
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD-AS1, DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(S201R)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(I454fs)
Duplication
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Single nucleotide variant
(splice acceptor variant)
DPYD-related disorder
+1 more
GLikely pathogenic
DPYD
(I948T)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(Q170*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, LOC129930998
(M1L)
Single nucleotide variant
(missense variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
Deletion
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD
(Y110H)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
DPYD
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DPYD, DPYD-AS1
(R692Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dihydropyrimidine dehydrogenase deficiency
+2 more
GUncertain significance
DPYD
Single nucleotide variant
(intron variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD, DPYD-AS1
(G728V)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD, DPYD-AS1
(E884*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GPathogenic
DPYD
(V586A)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Microsatellite
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(R916fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(D829N)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
DPYD
(Q299*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GLikely pathogenic
DPYD
(K290E)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+2 more
GUncertain significance
DPYD
(M182K)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GUncertain significance
DPYD
(A664S)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+2 more
GUncertain significance
DPYD
(L155*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
GPathogenic
DPYD
Single nucleotide variant
(intron variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(splice acceptor variant)
Dihydropyrimidine dehydrogenase deficiency
GPathogenic
DPYD
(E386*)
Single nucleotide variant
(nonsense)
fluorouracil response - Other
+1 more
Gdrug response
DPYD
(P86L)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
DPYD-AS1, DPYD
(P786H)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(A380G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DPYD, LOC129930998
Single nucleotide variant
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD, LOC129930998
(A2S)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(synonymous variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(intron variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(synonymous variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(synonymous variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
Single nucleotide variant
(intron variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(K446T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DPYD
(A450V)
Single nucleotide variant
(missense variant)
DPYD-related disorder
+1 more
GConflicting classifications of pathogenicity
DPYD
(N457D)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(G936D)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
GUncertain significance
DPYD
(P1023S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
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
(L578P)
Single nucleotide variant
(missense 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, DPYD-AS1
(C695F)
Single nucleotide variant
(non-coding transcript variant +1 more)
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
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