Table 9. [Noonan Syndrome with Multiple Lentigines: Notable Pathogenic Variants by Gene]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
BRAF	NM_004333.6 NP_004324.2	c.721A>C	p.Thr241Pro
c.735A>T	p.Leu245Phe	FDA-recognized variant
MAP2K1	NM_002755.4 NP_002746.1	c.199G>A	p.Asp67Asn	FDA-recognized variant
c.305A>G	p.Glu102Gly
PTPN11	NM_002834.5 NP_002825.3	c.836A>G	p.Tyr279Cys
c.1381G>A	p.Ala461Thr
c.1391G>C	p.Gly464Met
c.1402C>T	p.Thr468Met	Assoc w/malignancy in a small case series [Smpokou et al 2015]
c.1507G>C	p.Gly503Arg
c.1510A>G	p.Met504Val	FDA-recognized variant
c.1517A>C	p.Gln506Pro
c.1529A>C	p.Gln510Pro	FDA-recognized variant
RAF1	NM_002880.4 NP_002871.1	c.770C>T	p.Ser257Leu	FDA-recognized variant
c.1837C>G	p.Leu613Val	FDA-recognized variant

From: Noonan Syndrome with Multiple Lentigines

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