ClinVar Miner

List of variants studied for geleophysic dysplasia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (10):

Acromicric dysplasia; Geleophysic dysplasia 2
Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3
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; 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
Ectopia lentis 1, isolated, autosomal dominant; Stiff skin syndrome; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Geleophysic dysplasia 1
Geleophysic dysplasia 2
Geleophysic dysplasia 3

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014694.4(ADAMTSL2):c.683-12T>G	rs9802778	0.85656
NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=)	rs2073875	0.85265
NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=)	rs2073874	0.85257
NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=)	rs2073876	0.85254
NM_014694.4(ADAMTSL2):c.939+11C>T	rs2073878	0.85229
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)	rs1064975	0.61566
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)	rs7868941	0.16167
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)	rs534165083	0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)	rs62637566	0.12851

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