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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE1
(L6772fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive ataxia, Beauce type
GLikely pathogenic
SYNE1
(Q4372fs +1 more)
Duplication
(frameshift variant)
Autosomal recessive ataxia, Beauce type
GLikely pathogenic
SYNE1
(K4131fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive ataxia, Beauce type
GLikely pathogenic
SYNE1
(M660I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia, Beauce type
GUncertain significance
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