ClinVar Miner

List of variants in gene SMAD3 reported as pathogenic for Loeys-Dietz syndrome

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)	rs387906856
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)	rs886038836
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)	rs1555414503
NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup)	rs1595941653
NM_005902.4(SMAD3):c.313del (p.Ala105fs)	rs587776882
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)	rs387906854
NM_005902.4(SMAD3):c.401-6G>A	rs745672741
NM_005902.4(SMAD3):c.653del (p.Asn218fs)	rs587776881
NM_005902.4(SMAD3):c.668del (p.Pro223fs)	rs1595956416
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	rs387906853
NM_005902.4(SMAD3):c.736del (p.Glu246fs)	rs1595956538
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)	rs587776880
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile)	rs387906851
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)	rs387906855
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)	rs387906852
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	rs387906850
NM_005902.4(SMAD3):c.874del (p.Arg292fs)	rs1595960347

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