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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL, DLG4
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADVL
(G185S +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic
ACADVL
(R436W +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ACADVL
Single nucleotide variant
(intron variant)
Very long chain acyl-CoA dehydrogenase deficiency
GUncertain significance
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