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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXRED1
(G70A)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GLikely pathogenic
FOXRED1
(P190S)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
+1 more
GUncertain significance
FOXRED1
(G211A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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