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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFG3L2
(A572T)
Single nucleotide variant
(missense variant)
Optic atrophy 12
+2 more
GUncertain significance
AFG3L2
(A529V)
Single nucleotide variant
(missense variant)
Glycogen storage disease type III
GLikely pathogenic