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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCH1
(Q219*)
Single nucleotide variant
(nonsense +1 more)
Rigidity
+5 more
GLikely pathogenic
GCH1
(M211fs)
Deletion
(frameshift variant +1 more)
Dystonia 5
+3 more
GPathogenic