List of variants reported as pathogenic for Noonan syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
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_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)	rs397507527
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	rs397507531
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	rs104894359
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	rs137852814
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	rs397517172
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822

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