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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPYD, DPYD-AS1
(D829N)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
DPYD
(L682fs)
Deletion
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
DPYD
(I560S)
Single nucleotide variant
(missense variant)
fluorouracil response - Other
+3 more
Gdrug response
DPYD
(G539R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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
(F100fs)
Microsatellite
(frameshift variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GPathogenic
DPYD
(P86L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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