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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UROD
(F46L)
Single nucleotide variant
(missense variant +1 more)
UROD-related disorder
+1 more
GLikely pathogenic
UROD
(Q206*)
Single nucleotide variant
(nonsense +1 more)
Familial porphyria cutanea tarda
+1 more
GPathogenic/Likely pathogenic
UROD
(A254fs)
Duplication
(frameshift variant +1 more)
Familial porphyria cutanea tarda
GLikely pathogenic
HFE
Single nucleotide variant
(splice donor variant)
Variegate porphyria
+7 more
GPathogenic/Likely pathogenic
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