U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADS
(R46W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADS
(L53V)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
ACADS
(R107C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ACADS
Single nucleotide variant
(intron variant)
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
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)
Deficiency of butyryl-CoA dehydrogenase
+2 more
GPathogenic/Likely pathogenic
ACADS
(A192V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADS
(A204P)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
ACADS
Single nucleotide variant
(splice acceptor variant)
Deficiency of butyryl-CoA dehydrogenase
GLikely pathogenic
ACADS
(G221R +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
ACADS
(R330C +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
+3 more
GPathogenic/Likely pathogenic
ACADS
(E344G +1 more)
Single nucleotide variant
(missense variant)
ACADS-related disorder
+1 more
GPathogenic/Likely pathogenic
ACADS
(Q365H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADS
(R380W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADS
(R386C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination