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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADS
(R46W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADS
(A68V)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
ACADS
(E104del)
Microsatellite
(inframe_deletion)
Deficiency of butyryl-CoA dehydrogenase
+1 more
GPathogenic
ACADS
(R107C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ACADS
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ACADS
(S161G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACADS
(W177R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
+2 more
GPathogenic/Likely pathogenic
ACADS
(S193L)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
GConflicting classifications of pathogenicity
ACADS
(A316S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
ACADS
(T328del +1 more)
Deletion
(inframe_deletion)
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
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ACADS
(E344G +1 more)
Single nucleotide variant
(missense variant)
ACADS-related disorder
+1 more
GPathogenic/Likely pathogenic
ACADS
(A352T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADS
(R380W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADS
(R383C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADS
(R386H +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GConflicting classifications of pathogenicity
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