ClinVar Miner

List of variants studied for Loeys-Dietz syndrome by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (29):

Aneurysm-osteoarthritis syndrome
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome
Congenital aneurysm of ascending aorta; Loeys-Dietz syndrome
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection
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; MASS syndrome; Weill-Marchesani syndrome 2, dominant; Familial thoracic aortic aneurysm and aortic dissection
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
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 1; Marfan syndrome
Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 2; Malignant tumor of esophagus; Colorectal cancer, hereditary nonpolyposis, type 6
Loeys-Dietz syndrome 4
Loeys-Dietz syndrome 6
Loeys-Dietz syndrome 6; Congenital heart defects, multiple types, 8, with or without heterotaxy
Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome; Thoracic aortic aneurysm; Thoracic aortic dissection
Marfan syndrome
Marfan syndrome; Congenital contractural arachnodactyly
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome; Left ventricular diastolic dysfunction
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Isolated ectopia lentis
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome
Rienhoff syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly)	rs1057520617	0.00001
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)	rs1555399968
NM_000138.5(FBN1):c.3157T>G (p.Cys1053Gly)	rs1555398667
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)	rs1555396418
NM_000138.5(FBN1):c.6379+1G>A	rs397515833
NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)	rs1566895262
NM_001135599.4:c.595_1245del

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