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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADS
(T169P)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
GConflicting classifications of pathogenicity
ACADS
(W177R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADS
(E344G +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GPathogenic/Likely pathogenic
ACADS
(S353L +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
+1 more
GPathogenic/Likely pathogenic
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