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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2
(A53V +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
+1 more
GConflicting classifications of pathogenicity
ATP8A2
(R1147W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance