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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS4
(R106*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial complex I deficiency
+3 more
GPathogenic
NDUFS3
(R125H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFV1
(S56P +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
NDUFV1
(R119Q +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+1 more
GConflicting classifications of pathogenicity
NDUFV1
(V236M +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency
+2 more
GConflicting classifications of pathogenicity
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