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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFA2, TMCO6
(N76fs)
Deletion
(non-coding transcript variant +2 more)
Cystic Leukoencephalopathy
+1 more
GConflicting classifications of pathogenicity
NDUFA2, TMCO6
(K45T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cystic Leukoencephalopathy
GPathogenic