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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCY5
(A608T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(M503T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(S419L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(A726T +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
+1 more
GPathogenic
ADCY5
(H294Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(A143P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADCY5
(G134S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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