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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFB3
(W22R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
NDUFS1
(C710Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFS1
(R417G +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
GUncertain significance
ACAD9
Deletion
(splice acceptor variant)
Mitochondrial complex I deficiency
+2 more
GLikely pathogenic
ACAD9
(F120fs)
Deletion
(frameshift variant +1 more)
Mitochondrial complex I deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
(R266W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACAD9
(A326P)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
(E413K)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
(R414S)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
(R417C)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9
(R518C)
Single nucleotide variant
(missense variant +1 more)
ACAD9-related disorder
+3 more
GConflicting classifications of pathogenicity
ACAD9, CFAP92
(R532W +1 more)
Single nucleotide variant
(missense variant +2 more)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GPathogenic/Likely pathogenic
ACAD9, CFAP92
Deletion
(3 prime UTR variant +1 more)
Mitochondrial complex I deficiency
+2 more
GLikely pathogenic
NDUFS4
(R106*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GPathogenic
NDUFS4
(D119H)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex I deficiency
+3 more
GLikely pathogenic
NDUFV1
(S56P +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
NDUFV1
(A341V +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GConflicting classifications of pathogenicity
LOC126861242, NDUFV1
(T423M +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+4 more
GPathogenic/Likely pathogenic
LOC126861242, NDUFV1
(R460W +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+5 more
GUncertain significance
NDUFS8
(P22S)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GUncertain significance
NUBPL
(L104P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency
+3 more
GPathogenic/Likely pathogenic
NUBPL
(G56R)
Single nucleotide variant
(intron variant +2 more)
Mitochondrial complex I deficiency
GPathogenic
NDUFAF5
(K109N)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
NDUFAF5
(L229P +3 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 16
+1 more
GLikely pathogenic
NDUFAF5
(G250V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NDUFAF5
(M279R +3 more)
Single nucleotide variant
(missense variant +1 more)
Leigh syndrome
+3 more
GPathogenic/Likely pathogenic
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