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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXRED1, LOC130007026
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GBenign
FOXRED1
(R93Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXRED1
(V145I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXRED1
(R244C +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FOXRED1
(R252H)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
FOXRED1
(H380R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXRED1
(D417E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FOXRED1
(Q418E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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