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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFA9
(R17L)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 26
GUncertain significance
NDUFA9
(R75L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFA9
(R360C)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 26
GLikely pathogenic
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