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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCO2, NCAPH2
(R120W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
+1 more
GUncertain significance
NCAPH2, SCO2
(R84G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
GUncertain significance
SCO2, NCAPH2
(R6fs)
Insertion
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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