List of variants reported as pathogenic for Noonan syndrome by Genetics and Molecular Pathology, SA Pathology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	rs397507504	0.00001
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	rs121918469
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	rs397507523
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)	rs3730271
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	rs397517154
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014

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