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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFDH
(A15T +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ETFDH
(I483fs +2 more)
Duplication
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic