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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE1
(D8536A +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+4 more
GConflicting classifications of pathogenicity
SYNE1
(R6913C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SYNE1
(T3725A +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
+2 more
GConflicting classifications of pathogenicity
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