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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TH
(G243S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GCH1
(V204I)
Single nucleotide variant
(missense variant)
GTP cyclohydrolase I deficiency
+3 more
GConflicting classifications of pathogenicity
GCH1
(L92F)
Single nucleotide variant
(missense variant)
Dystonia 5
GUncertain significance
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