List of variants reported as likely pathogenic for Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)	rs397507539	0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)	rs886043790	0.00001
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)	rs397507536
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	rs397507540
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	rs397516801
NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)	rs2038154558
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527

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