List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome by Revvity Omics, Revvity

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)	rs104894230
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys)	rs868208063
NM_006912.6(RIT1):c.268A>G (p.Met90Val)	rs1557960039
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	rs672601335
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	rs113954997
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	rs730880517

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