Related gene-specific medical variations for Gene (Select 35) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244261	NC_000012.11:g.(?_121175482)_(121175653_?)del	ACADS	Deletion	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3065854	NM_000017.4(ACADS):c.1132del (p.Ala378fs)	ACADS (A374fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3065241	NM_000017.4(ACADS):c.46+3G>C	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely benign
Select item 2690826	NM_000017.4(ACADS):c.610G>C (p.Ala204Pro)	ACADS (A204P)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 2438808	NM_000017.4(ACADS):c.360+49C>T	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 973488	NM_000017.4(ACADS):c.934-5T>A	ACADS	Single nucleotide variant (intron variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 254694	NM_000017.4(ACADS):c.360+21C>G	ACADS	Single nucleotide variant (intron variant)	not specified	GLikely benign

ClinVar