ClinVar Miner

List of variants reported as not provided 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	rs137854475	0.00168
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)	rs371876622	0.00003
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)	rs148076256	0.00002
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)	rs749133312	0.00001
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)	rs1480715909	0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)	rs863223838	0.00001
NM_000138.5(FBN1):c.1571del (p.Thr524fs)	rs886038817
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)	rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)	rs794728290
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)	rs1555398835
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp)	rs1555398626
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)	rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)	rs1597537835
NM_000138.5(FBN1):c.762del (p.Leu256fs)	rs1064793559
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)	rs1555393833
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)	rs1656695125
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg)	rs2035412849
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	rs35766612

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