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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN2
Microsatellite
(inframe_insertion)
not provided
+2 more
GUncertain significance
SPTBN2
(R1039Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 5
+3 more
GConflicting classifications of pathogenicity