List of variants in gene ACADSB reported as pathogenic for Deficiency of 2-methylbutyryl-CoA dehydrogenase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val)	rs201877440
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser)	rs387906409
NM_001609.3(ACADSB):c.303+3A>G	rs1345480688
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe)	rs137852649
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287
NM_001609.4(ACADSB):c.303+1G>A	rs147936696
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)	rs756587384
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253
NM_001609.4(ACADSB):c.653dup (p.Val219fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.