ClinVar Miner

List of variants studied for isolated ectopia lentis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (13):

Ectopia lentis 1, isolated, autosomal dominant
Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Familial thoracic aortic aneurysm and aortic dissection
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
Ectopia lentis 1, isolated, autosomal dominant; Stiff skin syndrome; Geleophysic dysplasia 2; Familial thoracic aortic aneurysm and aortic dissection
Ectopia lentis 2, isolated, autosomal recessive
Ectopia lentis et pupillae
Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive
Familial ectopia lentis
Isolated ectopia lentis
Marfan syndrome; MASS syndrome; Stiff skin syndrome; Isolated ectopia lentis

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)	rs25403
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)	rs1555397725
NM_000138.5(FBN1):c.5545+1G>C
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480

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