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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL
(K67* +1 more)
Single nucleotide variant
(nonsense +2 more)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(E209Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ACADVL
(G289R +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
ACADVL
(F376S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(D355G +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(G365A +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(R456H +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ACADVL
(R531W +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ACADVL
(E534K +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACADVL
(R567Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADVL
Single nucleotide variant
(splice acceptor variant)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(R632C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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