C4023591[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812785	NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)	ACADVL, DLG4 (Q13*)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 1634	NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	ACADVL (R450H +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic FDA Recognized database