List of variants reported as pathogenic for Noonan syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp)	rs730881005	0.00003
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)	rs1576359216
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	rs121918460
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	rs397507518
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	rs397517150
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.27del (p.Gln10fs)	rs587777613

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