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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCH1
(G217S)
Single nucleotide variant
(missense variant +1 more)
Dystonia 5
GUncertain significance
GCH1
(G203R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GCH1
(Q182*)
Single nucleotide variant
(nonsense)
Dystonia 5
GPathogenic
GCH1
(K160*)
Single nucleotide variant
(nonsense)
Dystonic disorder
+1 more
GPathogenic/Likely pathogenic
GCH1
(E84*)
Single nucleotide variant
(nonsense)
GTP cyclohydrolase I deficiency
+1 more
GPathogenic
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