List of variants reported as pathogenic for Berardinelli-Seip congenital lipodystrophy by Mendelics

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00094
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	rs387906355	0.00007
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	rs786205071	0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)	rs137852970	0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	rs587777606	0.00001
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)	rs786205069
NM_001122955.4(BSCL2):c.766-2A>G	rs1013079991
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)	rs1693228350

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.