SNV Highest impact Gene Nomenclature Associated Diseases
Family 1 Male fetal death in the 6th pregnancy at 13-20 weeks’ gestation chr1:61723786:T:C Splice region TM2D1 Beta-Amyloid Peptide Binding Protein Familial Alzheimer disease
chr1:61725096:G:A Missense
chr19:8939543:C:T Missense MUC16 Mucin 16 Ovarian cancer
chr19:8953864:G:T Missense
Family 1 Male fetal death in the 8th pregnancy at 13 weeks and 6 days gestation chr3:184236380:T:C Missense VWA5B2 Von Willebrand factor A domain containing 5B2 Usher syndrome