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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CA8
(R237Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
GPathogenic
CA8
Single nucleotide variant
(missense variant +2 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
GPathogenic
CA8
(S100P)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
GPathogenic
CA8
(N84S)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
GPathogenic
CA8
(R78*)
Single nucleotide variant
(nonsense +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
GPathogenic
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