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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APTX
Single nucleotide variant
(intron variant)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GBenign
APTX
Duplication
(intron variant)
not specified
+4 more
GBenign
APTX
Single nucleotide variant
(5 prime UTR variant +2 more)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
+1 more
GBenign
SETX
(C5del)
Microsatellite
(inframe_deletion)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+3 more
GUncertain significance
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