As a result of genotyping the 42 LD‐related genes in patients with MPN (N = 190) and CFNC cohorts (n = 461), potentially pathogenic germline single nucleotide variants, and/or insertion/deletions (indels) in 11 genes (ASAH1, GALC, GBA, GNPTAB, HEXB, HYAL1, MAN2B1, SGSH, GAA, GLB1, and TPP1) were identified. This evidence concerns the gene GNPTAB and myeloproliferative disorder.