ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (15):

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
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
Neonatal Marfan 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	rs137854466	0.00001
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)	rs112660651
NM_000138.5(FBN1):c.2729-2A>G	rs113813525
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	rs1555398512
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs)	rs2141272337
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter)	rs113249837
NM_000138.5(FBN1):c.5577dup (p.Cys1860fs)
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)	rs794728333
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	rs794728319
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)	rs1555394153

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