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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAREM2, HADHA
(R560*)
Single nucleotide variant
(nonsense)
Mitochondrial trifunctional protein deficiency
+1 more
GPathogenic
GAREM2, HADHA
(E510Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GPathogenic