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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADVL, DLG4
(Q13*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Very long chain acyl-CoA dehydrogenase deficiency
GPathogenic
ACADVL
(R450H +3 more)
Single nucleotide variant
(missense variant)
Very long chain acyl-CoA dehydrogenase deficiency
GLikely pathogenic