ClinVar Miner

List of variants studied for Weill-Marchesani syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)	rs7252299	0.99986
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=)	rs4369638	0.75672
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser)	rs2573652	0.70543
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)	rs4965613	0.68304
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=)	rs7496640	0.40719
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu)	rs7496668	0.39054
NM_139057.4(ADAMTS17):c.2591+6A>G	rs8028251	0.30715
NM_139057.4(ADAMTS17):c.789+8C>T	rs7496614	0.30495
NM_139057.4(ADAMTS17):c.2138-12C>T	rs28529328	0.25319
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=)	rs4965583	0.18423
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=)	rs12907333

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.