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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE1
(W7930fs +3 more)
Microsatellite
(frameshift variant)
Autosomal recessive ataxia, Beauce type
+1 more
GPathogenic
SYNE1
(R5339* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive ataxia, Beauce type
GPathogenic