ClinVar Miner

List of variants reported as uncertain significance for Marfan syndrome by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (18):

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
Neonatal Marfan 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)	rs363855	0.00004
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)	rs774658482	0.00004
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)	rs369482365	0.00003
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)	rs1406315227	0.00001
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)	rs374520085	0.00001
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)	rs2043799037
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)	rs746824357

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