"Myriad Genetics, Inc."[submitter] AND "ACADS"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725158	NM_000017.4(ACADS):c.54dup (p.Pro19fs)	ACADS (P19fs)	Duplication (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1726215	NM_000017.4(ACADS):c.125_126del (p.Leu42fs)	ACADS (L42fs)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1726868	NM_000017.4(ACADS):c.224del (p.Gly75fs)	ACADS (G75fs)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3826	NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)	ACADS (R107C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1723983	NM_000017.4(ACADS):c.423_424del (p.Pro142fs)	ACADS (P142fs)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1726489	NM_000017.4(ACADS):c.518_519insCTGCT (p.Glu173fs)	ACADS (E173fs)	Insertion (frameshift variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1726904	NM_000017.4(ACADS):c.607A>T (p.Arg203Ter)	ACADS (R203*)	Single nucleotide variant (nonsense +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1724727	NM_000017.4(ACADS):c.711del (p.Thr238fs)	ACADS (T234fs +1 more)	Deletion (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1726443	NM_000017.4(ACADS):c.872_873del (p.Val291fs)	ACADS (V287fs +1 more)	Microsatellite (frameshift variant)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1726454	NM_000017.4(ACADS):c.916A>T (p.Lys306Ter)	ACADS (K302* +1 more)	Single nucleotide variant (nonsense)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic