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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD8
(M1T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely pathogenic
ACAD8
(E44K)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(A156S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
(V255M)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GUncertain significance
ACAD8
(R302Q)
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
GLikely pathogenic
ACAD8
(R330W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD8
Single nucleotide variant
(missense variant)
Deficiency of isobutyryl-CoA dehydrogenase
+1 more
GPathogenic/Likely pathogenic
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