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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLC2
(R432Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia, optic atropy, and neuropathy
+1 more
GUncertain significance
ACTN3, ACY3
+94 more
Copy number gain
not provided
GPathogenic