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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic/Likely pathogenic
ANO10
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ANO10
(D45fs)
Duplication
(frameshift variant)
Autosomal recessive spinocerebellar ataxia 10
+3 more
GPathogenic/Likely pathogenic
ANO10
(K44E)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
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