ClinVar Miner

List of variants reported as likely pathogenic for Weill-Marchesani syndrome by Fulgent Genetics, Fulgent Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.442+1G>A	rs868403743	0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	rs112645512
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)	rs1555400373
NM_000138.5(FBN1):c.1837+5G>A	rs1445085747
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)	rs1555398681
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)	rs1555397413
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)	rs1555395486
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)	rs363810
NM_000428.3(LTBP2):c.2389-2A>G	rs1327636983

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