ClinVar Miner

List of variants in gene ADAMTSL2 reported as not provided for geleophysic dysplasia

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)	rs113994123	0.00002
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)	rs113994124
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)	rs113994125
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)	rs113994122
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)	rs113994121

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