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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UROD
(R193P)
Single nucleotide variant
(missense variant +1 more)
UROD-related disorder
+1 more
GLikely pathogenic
UROD
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
UROD
(G281E)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
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