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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACO2
(V163M)
Single nucleotide variant
(missense variant)
Infantile cerebellar-retinal degeneration
GUncertain significance
ACO2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance