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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL
(G200R +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADVL
(G222R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic