ClinVar Miner

List of variants in gene combination FBN1, LOC126862124 reported as benign for geleophysic dysplasia

Included ClinVar conditions (10):

Acromicric dysplasia; Geleophysic dysplasia 2
Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3
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
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection; Progeroid and marfanoid aspect-lipodystrophy syndrome
Ectopia lentis 1, isolated, autosomal dominant; Stiff skin syndrome; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Geleophysic dysplasia 1
Geleophysic dysplasia 2
Geleophysic dysplasia 3

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	rs201273753	0.00034
NM_000138.5(FBN1):c.4211-10C>T	rs28730793	0.00006
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	rs377338217	0.00001

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.