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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAPH2, SCO2
(E140K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Tip-toe gait
+4 more
GPathogenic
SCO2, TYMP
+1 more
(S471L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
+3 more
GBenign