List of variants reported as pathogenic for Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome by Fulgent Genetics, Fulgent Genetics

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_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	rs193922228	0.00001
NM_000138.5(FBN1):c.1468+5G>A	rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	rs730880099
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)	rs193922185
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	rs794728195
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	rs137854467
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)	rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	rs111401431
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)	rs794728228
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)	rs113871094
NM_000138.5(FBN1):c.491del (p.Asn164fs)	rs2044515447
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr)	rs1597535300
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)	rs111984349
NM_000138.5(FBN1):c.7897T>C (p.Cys2633Arg)	rs1555393871

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.