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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE10A
(P22H +1 more)
Single nucleotide variant
(missense variant +1 more)
Striatal degeneration, autosomal dominant 2
GUncertain significance
PDE10A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PDE10A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PDE10A
(R182* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
PDE10A
Single nucleotide variant
(synonymous variant)
Infantile-onset generalized dyskinesia with orofacial involvement
+2 more
GLikely benign
PDE10A
(F334C +2 more)
Single nucleotide variant
(missense variant)
Infantile-onset generalized dyskinesia with orofacial involvement
+1 more
GPathogenic/Likely pathogenic
PDE10A
(F300L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PDE10A
(F334L +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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