Currently DMuDB has over 4,884 records for 33 genes, namely Breast Cancer (BRCA1, BRCA2), Lowe Syndrome (OCRL), Sotos Syndrome (NSD1), HNPCC (MLH1, MSH2), cystic fibrosis (CFTR), X-linked retinitis pigmentosa (XLRP), neurofibromatosis, Types I and II (NF1, NF2), Alstrom Syndrome (ALMS1), CADASIL (NOTCH3), familial adenomatous polyposis (FAP), and muscular dystrophy (DMD), containing over 10,985 individual variants. This evidence concerns the gene NOTCH3 and Duchenne muscular dystrophy.