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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS1
(Y553D +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 5
GUncertain significance
NDUFS1
(D440Y +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 5
GUncertain significance
NDUFS1
(L405F +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 5
GUncertain significance
NDUFS1
(G139R +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 5
GUncertain significance
NDUFS1
(I130N +4 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 5
GUncertain significance
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