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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.442+1G>A	rs868403743	0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	rs112645512
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)	rs1555400373
NM_000138.5(FBN1):c.1837+5G>A	rs1445085747
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.3124G>A (p.Gly1042Ser)	rs1555398681
NM_000138.5(FBN1):c.3337+1dup	rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)	rs397515791
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)	rs1555397413
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)	rs1555395486
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)
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)	rs363810

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