ClinVar Miner

List of variants reported as likely benign for Weill-Marchesani syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (14):

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
Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Marfan syndrome; MASS syndrome; Congenital aneurysm of ascending aorta; Weill-Marchesani syndrome; Ectopia lentis
Microspherophakia; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3
Weill-Marchesani 4 syndrome, recessive
Weill-Marchesani syndrome
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 2, dominant
Weill-Marchesani syndrome 3
Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_030957.4(ADAMTS10):c.2403+4A>G	rs187565033	0.00608
NM_000428.3(LTBP2):c.1399+10G>T	rs143528294	0.00488
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	rs112287730	0.00107
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)	rs143896591	0.00033
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)	rs137854861	0.00032
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)	rs140890215	0.00016

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