List of variants reported as pathogenic for Familial visceral amyloidosis, Ostertag type

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000239.3(LYZ):c.199G>C (p.Asp67His)	rs387906535	0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	rs121909612	0.00001
NM_000039.3(APOA1):c.220T>C (p.Trp74Arg)	rs121912726
NM_000039.3(APOA1):c.250_284delinsGTCAC (p.Leu84_Phe95delinsValThr)	rs2134231440
NM_000039.3(APOA1):c.251T>G (p.Leu84Arg)	rs121912724
NM_000039.3(APOA1):c.593T>C (p.Leu198Ser)	rs121912729
NM_000039.3(APOA1):c.595G>C (p.Ala199Pro)	rs121912730
NM_000239.3(LYZ):c.221T>C (p.Ile74Thr)	rs121913547
NM_000239.3(LYZ):c.223T>A (p.Phe75Ile)	rs121913549
NM_000239.3(LYZ):c.244T>A (p.Trp82Arg)	rs387906536
NM_000239.3(LYZ):c.244T>C (p.Trp82Arg)	rs387906536
NM_004048.4(B2M):c.154_155delinsTT (p.Pro52Leu)	rs2141288680
NM_004048.4(B2M):c.286G>A (p.Asp96Asn)	rs398122820
NM_021871.4(FGA):c.1622del (p.Val541fs)	rs587777761
NM_021871.4(FGA):c.1629del (p.Thr544fs)	rs587777762
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu)	rs78506343
NM_021871.4(FGA):c.713del (p.Lys238fs)

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.