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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADS
(M1T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
GPathogenic/Likely pathogenic
ACADS
(R46W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACADS
(P55L)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
GPathogenic/Likely pathogenic
ACADS
(R107C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
ACADS
(L154F)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
+1 more
GUncertain significance
ACADS
(A170T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ACADS
(G209S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ACADS
(R272C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADS
(R272H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACADS
Single nucleotide variant
(synonymous variant)
Deficiency of butyryl-CoA dehydrogenase
+1 more
GLikely benign
ACADS
(R326C +1 more)
Indel
(missense variant)
ACADS-related condition
+2 more
GPathogenic/Likely pathogenic
ACADS
(A331T +1 more)
Single nucleotide variant
(missense variant)
Deficiency of butyryl-CoA dehydrogenase
+1 more
GUncertain significance
ACADS
(S353L +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
ACADS
(R395W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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