List of variants reported as pathogenic for Noonan syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	rs397507540
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	rs672601335

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