List of variants reported as pathogenic for Noonan syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	rs121913250
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	rs397507506
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)	rs397507478
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	rs397517148
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)	rs397517174
NM_006912.6(RIT1):c.268A>G (p.Met90Val)

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