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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAF, WWOX
(S411del +1 more)
Deletion
(inframe_deletion)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
MAF, WWOX
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GUncertain significance
MAF
(E20D)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
GUncertain significance
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