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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFAF1
(L208M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFAF1
(V123A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
NDUFAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GConflicting classifications of pathogenicity
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