ClinVar Miner

List of variants reported as pathogenic for Loeys-Dietz syndrome 2 by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (17):

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 1; Marfan syndrome
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
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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)	rs112989722	0.00001
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)	rs1555399963
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)	rs727505006
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)	rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)	rs111231312
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	rs727504292
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	rs863223852

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