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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUBCN
(E647V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 15
+1 more
GUncertain significance
RUBCN
(T42A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 15
GUncertain significance