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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCY5
(M1029K +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GPathogenic
ADCY5
(A726T +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
+1 more
GPathogenic
ADCY5
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ADCY5
(R418Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
ADCY5
(R418W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
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