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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APTX
(Q324L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
APTX
Deletion
(intron variant)
not specified
+2 more
GBenign
APTX
Insertion
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GBenign/Likely benign
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