"GeneDx"[submitter] AND "LOC130060113"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166638	NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	ACADVL, LOC130060113 (S22* +1 more)	Single nucleotide variant (nonsense +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database
Select item 21023	NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)	ACADVL, LOC130060113 (R23Q +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 655628	NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)	ACADVL, LOC130060113 (L27F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 21015	NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)	ACADVL, LOC130060113 (G43D +1 more)	Single nucleotide variant (missense variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign FDA Recognized database
Select item 449935	NM_000018.4(ACADVL):c.138+2dup	ACADVL, LOC130060113	Duplication (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance FDA Recognized database
Select item 388142	NM_000018.4(ACADVL):c.138+10C>G	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

ClinVar