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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXRED1
(Q232*)
Single nucleotide variant
(nonsense +1 more)
FOXRED1-related disorder
+3 more
GPathogenic
FOXRED1
(R252C)
Single nucleotide variant
(missense variant +1 more)
Leigh syndrome
+3 more
GConflicting classifications of pathogenicity
FOXRED1
(L391V)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GConflicting classifications of pathogenicity
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