Of the 10 missense PVs, 80% were previously reported as being associated with NF-NS, specifically NF1 p.(Arg1809) (50%, 2 families), p.(Arg1276) (20%, 2 families) and p.(Lys1423) (10%) No PVs were found in other RASopathies-related genes. The gene discussed is NF1; the disease is RASopathy.