List of variants reported as likely pathogenic for X-linked disease by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)	rs1569165417
NM_001111125.3(IQSEC2):c.738-1G>A	rs1569306667
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)	rs2520984740
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)	rs1928358562
NM_001353921.2(ARHGEF9):c.1078-3T>G	rs1409374479
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)	rs1556401730
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)	rs137852818
NM_001367721.1(CASK):c.359A>G (p.His120Arg)	rs1602550687
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)	rs1924450715
NM_004187.5(KDM5C):c.100del (p.Ile34fs)	rs1569285361
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)	rs1569279367
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)	rs1569216119
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)	rs1569321518

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