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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN2
(L457P)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 14
GUncertain significance
SPTBN2
(T385M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance