ClinVar Miner

List of variants in gene ADAMTS10 reported as pathogenic for Weill-Marchesani syndrome

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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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)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr)	rs121434358	0.00021
NM_030957.4(ADAMTS10):c.810+1G>A	rs387906266	0.00001
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_030957.4(ADAMTS10):c.1190+1G>A	rs431825170
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp)	rs267606636
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys)	rs267606637
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter)	rs121434357
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter)	rs121434359

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