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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC8, NDUFAF2
Single nucleotide variant
(synonymous variant)
Leigh syndrome
+4 more
GBenign
NDUFAF2
(W74*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
NDUFAF2
Single nucleotide variant
(synonymous variant)
Mitochondrial complex 1 deficiency, nuclear type 10
+4 more
GBenign/Likely benign
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