There were four different reasons for this: (1) copy-number variants (CNVs) are not detected by ES (couple 23, wherein one parent carries two SMN1 copies on one allele; couple 34, with a 3.4-kb deletion in the HBA1 and HBA2 genes; couple 63, with a 17p11.2 deletion), (2) delay in available literature not known at time of analysis (couples 7 and 62), (3) pipeline settings (couple 22 carries a deep intronic variant that is filtered out in the current ES analysis), and (4) exclusively registered with AD inheritance (couple 83). Here, SMN1 is linked to Alzheimer disease.