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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADPRS
(V46F)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
GUncertain significance
ADPRS
Single nucleotide variant
(synonymous variant)
ADPRS-related disorder
+1 more
GConflicting classifications of pathogenicity
ADPRS
(Y164C)
Single nucleotide variant
(missense variant)
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
GUncertain significance
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