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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL
(G214fs +7 more)
Deletion
(frameshift variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(M224I +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(A282V +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(R366H +7 more)
Single nucleotide variant
(missense variant +1 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(R453Q +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
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