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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFG3L2
(V723M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
AFG3L2
(V212fs)
Duplication
(frameshift variant)
Spastic ataxia 5
GPathogenic