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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CWF19L1, CHUK-DT
(E519del +3 more)
Microsatellite
(inframe_deletion)
Autosomal recessive spinocerebellar ataxia 17
+1 more
GUncertain significance
CWF19L1
(H314Y +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 17
+1 more
GBenign