ClinVar Miner

List of variants reported as benign for Loeys-Dietz syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)	rs1065080	0.87365
NM_005902.4(SMAD3):c.207-14637C>T	rs17293632	0.17469
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	rs35874463	0.03414
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)	rs117185005	0.01464
NM_003238.6(TGFB2):c.643+7A>C	rs7531245	0.01418
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)	rs10482810	0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	rs10482721	0.00297
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)	rs149215818	0.00087
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)	rs138514914	0.00054
NM_003238.6(TGFB2):c.510+12TTG[11]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13]	rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9]	rs10482769

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