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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN2
(R437Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 5
+1 more
GPathogenic/Likely pathogenic
SPTBN2
(M436T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic