Table 3. [Allelic Disorders Due to Germline Pathogenic Variants]. - GeneReviews®

Gene	Disorder
BRAF	While individuals with a clinical diagnosis of either Noonan syndrome with multiple lentigines or Noonan syndrome have been reported in the medical literature to be associated with pathogenic variants in BRAF, ¹ the author feels strongly that a pathogenic variant in BRAF molecularly defines CFC syndrome.
KRAS	Noonan syndrome (See Differential Diagnosis.)
RAS-associated autoimmune leukoproliferative disorder (OMIM 614470)
MAP2K1	Noonan syndrome (See Differential Diagnosis.) The author feels strongly that a pathogenic variant in MAP2K1 molecularly defines CFC syndrome.

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.