List of variants reported as pathogenic for 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 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)	rs727503057	0.00001
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs)	rs1566911957
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	rs140583
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs)	rs1597631624
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr)	rs397515794
NM_000138.5(FBN1):c.5546-1G>A	rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs)	rs2141249251

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