We reviewed our WES data for the genes associated with CD and found a likely pathogenic missense variant NM_022162.3: c.2104C>T; p.R702W with a CADD score of 24.1 in exon 4 of the NOD2 gene in individuals IV-2, IV-5, V-3, V-4 and V-7. Here, NOD2 is linked to Cowden disease.