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Links from MedGen

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADCY5
(T240A +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(R278H +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(D109E)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(Q1021* +2 more)
Single nucleotide variant
(nonsense)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(R412L +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(Q118E)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
Duplication
(inframe_insertion)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(M1fs)
Duplication
(frameshift variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(R410* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ADCY5
(K341M +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(E1025G +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(E342K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY5
(A141V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY5
(A211V)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(R217C)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(Y233H)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GPathogenic
ADCY5
(D1015E +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GPathogenic
ADCY5
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
+3 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
+3 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign/Likely benign
ADCY5
Duplication
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADCY5
Deletion
(inframe_deletion)
Dyskinesia with orofacial involvement, autosomal dominant
GPathogenic
ADCY5
(P10L)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign
ADCY5
(P81L)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
ADCY5
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign
ADCY5
(G134S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ADCY5
(P132R)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(R168H)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(V1230M +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(D80del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
ADCY5
(V584I +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(A441V +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(I110F +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(K691E +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(R154fs)
Deletion
(frameshift variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
(P177T +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal dominant
+1 more
GBenign
ADCY5
(E1025A +2 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GLikely pathogenic
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign/Likely benign
ADCY5
(D606N +1 more)
Single nucleotide variant
(missense variant)
ADCY5-related disorder
+2 more
GConflicting classifications of pathogenicity
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal recessive
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
(H44Y)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(intron variant)
Dyskinesia with orofacial involvement, autosomal recessive
+5 more
GBenign/Likely benign
ADCY5
Single nucleotide variant
(synonymous variant)
Dyskinesia with orofacial involvement, autosomal dominant
+3 more
GBenign/Likely benign
ADCY5
(E34Q)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
GUncertain significance
ADCY5
(A102T)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
ADCY5
(R1057W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADCY5
(E634D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADCY5
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ADCY5
(R418Q +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+3 more
GPathogenic
ADCY5
Single nucleotide variant
(splice donor variant)
Dyskinesia with orofacial involvement, autosomal dominant
GPathogenic
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
(R418W +1 more)
Single nucleotide variant
(missense variant)
Dyskinesia with orofacial involvement, autosomal dominant
+2 more
GPathogenic
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