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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM
(T150fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ACADM
(Y148S +4 more)
Single nucleotide variant
(missense variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic/Likely pathogenic