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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN2
(Q1992*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 5
GLikely pathogenic
SPTBN2
(A853V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 5
+1 more
GConflicting classifications of pathogenicity
SPTBN2
(L457P)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 14
GUncertain significance
SPTBN2
(R437Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 5
+1 more
GPathogenic/Likely pathogenic
SPTBN2
(T385M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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