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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCY5
(V1230M +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(R217fs)
Deletion
(frameshift variant)
Dysarthria
+2 more
GUncertain significance