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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPYD, DPYD-AS1
Single nucleotide variant
(splice donor variant)
Dihydropyrimidine dehydrogenase deficiency
GLikely pathogenic
DPYD, DPYD-AS1
(I843T)
Single nucleotide variant
(missense variant)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GUncertain significance
DPYD, DPYD-AS1
(R759*)
Single nucleotide variant
(nonsense)
Dihydropyrimidine dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
DPYD, DPYD-AS1
(V691L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
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