List of variants reported as likely 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)	rs2141306513
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)	rs1555399372
NM_000138.5(FBN1):c.3337+1dup	rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)	rs397515791
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter)	rs71467648
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	rs794728334
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)

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