ClinVar Miner

List of variants reported as likely benign 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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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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