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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2
(D30fs +1 more)
Deletion
(frameshift variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
GLikely pathogenic
ATP8A2
Single nucleotide variant
(splice acceptor variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
GLikely pathogenic