ClinVar Miner

List of variants reported as pathogenic for Loeys-Dietz syndrome 2 by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)	rs1597579923
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)	rs1555399954
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)	rs1597569265
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)	rs1597564359
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)	rs113080385
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)	rs113001196
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)	rs1566922396
NM_003242.6(TGFBR2):c.1524+1G>A	rs727503475
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	rs727504421

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