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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXRED1, LOC130007026
(R17Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
FOXRED1
(Q118H)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
FOXRED1
(A206fs)
Duplication
(frameshift variant +1 more)
Mitochondrial complex I deficiency
+5 more
GConflicting classifications of pathogenicity
FOXRED1
(G211A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXRED1
(G226E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
FOXRED1
(R228W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+1 more
GConflicting classifications of pathogenicity
FOXRED1
Deletion
(inframe_deletion +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
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