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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+3 more
GBenign
GCH1
(K160*)
Single nucleotide variant
(nonsense)
Dystonic disorder
+1 more
GPathogenic/Likely pathogenic
GCH1
Single nucleotide variant
(splice acceptor variant)
Dystonic disorder
+2 more
GPathogenic
GCH1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
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