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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD8
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GBenign/Likely benign
ACAD8
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
(G97R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACAD8
(C150fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
ACAD8
(A156S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAD8
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ACAD8
(V202E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAD8
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAD8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACAD8
(R244Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAD8
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ACAD8
(R302Q)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely pathogenic
ACAD8
(A320T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAD8
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAD8
(R330W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
Deletion
(splice donor variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GUncertain significance
ACAD8
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ACAD8
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAD8
Single nucleotide variant
(intron variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GBenign
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