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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXRED1
(Q118H)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
FOXRED1
(G226E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
FOXRED1
Deletion
(inframe_deletion +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
FOXRED1
(R473H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
FOXRED1, LOC130007026
(R17Q)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+2 more
GUncertain significance
FOXRED1
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 19
+1 more
GPathogenic/Likely pathogenic
FOXRED1
(L150R)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+1 more
GUncertain significance
FOXRED1
(T315A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FOXRED1
(E353*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
FOXRED1
Single nucleotide variant
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 19
GUncertain significance
FOXRED1
(G70A)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GLikely pathogenic
FOXRED1
(V421M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FOXRED1
(G211A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FOXRED1
(G292R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
FOXRED1
(R136W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+2 more
GPathogenic/Likely pathogenic
FOXRED1, LOC130007026
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GBenign
FOXRED1
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex 1 deficiency, nuclear type 19
+1 more
GPathogenic/Likely pathogenic
FOXRED1
(G307E)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+2 more
GConflicting classifications of pathogenicity
FOXRED1
(R228W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+1 more
GConflicting classifications of pathogenicity
FOXRED1
(A206fs)
Duplication
(frameshift variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+5 more
GPathogenic/Likely pathogenic
FOXRED1
(R352W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
+2 more
GPathogenic
FOXRED1
(N430S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 19
GPathogenic
FOXRED1
(Q232*)
Single nucleotide variant
(nonsense +1 more)
FOXRED1-related disorder
+3 more
GPathogenic
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