List of variants in gene AGPAT2 reported as pathogenic for congenital generalized lipodystrophy

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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00103
NM_006412.4(AGPAT2):c.589-2A>G	rs116807569	0.00043
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)	rs387906355	0.00008
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)	rs797045222	0.00003
NM_006412.4(AGPAT2):c.492+1G>A	rs933422777	0.00003
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)	rs121908926	0.00002
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	rs104894093	0.00001
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)	rs764260414	0.00001
NM_006412.4(AGPAT2):c.493-1G>C	rs606231168	0.00001
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
NM_006412.4(AGPAT2):c.313A>G (p.Met105Val)	rs2119186288
NM_006412.4(AGPAT2):c.316+1G>T
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)	rs1693228350
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)	rs2131023956
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)	rs387906356
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)	rs1057518714
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)	rs1564290914
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	rs748157664
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)	rs1564290079
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)	rs121908925
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)	rs104894100
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	rs1255380257

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.