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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13D
(R316*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
VPS13D
(A4114V +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 4
+1 more
GLikely pathogenic