List of variants reported as likely pathogenic for blepharophimosis, ptosis, and epicanthus inversus syndrome by Wessex Regional Genetics Laboratory, Salisbury District Hospital

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn)	rs1559922647
NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp)	rs1057516142
NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp)	rs1559922634
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)	rs863225452
NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn)	rs1315073489
NM_023067.4(FOXL2):c.193A>G (p.Met65Val)	rs1559922621
NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro)	rs1559922577
NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile)	rs1559922558
NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg)	rs1226344391
NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp)	rs1559922528
NM_023067.4(FOXL2):c.311A>G (p.His104Arg)	rs1057516153
NM_023067.4(FOXL2):c.313_315del (p.Asn105del)	rs1057516154
NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del)	rs1559922498
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro)	rs1057516160
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)	rs797044527

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