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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS8
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GLikely pathogenic
NDUFS8
(R110H)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(R54W)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
(A123S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDUFS8
(R103W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NDUFS8
(E109K)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(R57P)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GLikely pathogenic
NDUFS8
(E167K)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(W195*)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 2
+1 more
GUncertain significance
NDUFS8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NDUFS8
(I128M)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GUncertain significance
NDUFS8
(G154S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
Single nucleotide variant
(intron variant)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GBenign
NDUFS8
(R2C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
NDUFS8
(E63Q)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
(A159D)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
(R77W)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
+1 more
GUncertain significance
NDUFS8
(R138H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(P85L)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 2
GPathogenic
NDUFS8
(R102H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFS8
(P79L)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GLikely pathogenic
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