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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADS
(R107C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ACADS
(W177R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
+2 more
GPathogenic/Likely pathogenic