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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006506, NARS2
(N381S +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 24
GLikely pathogenic
LOC130006506, NARS2
(N154D +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 24
+1 more
GConflicting classifications of pathogenicity