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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UROC1
(R188W)
Single nucleotide variant
(missense variant)
Urocanate hydratase deficiency
+1 more
GBenign/Likely benign
UROC1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
UROC1
(R20Q)
Single nucleotide variant
(missense variant)
Urocanate hydratase deficiency
+1 more
GBenign/Likely benign
UROC1
(R14W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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