Gene CYP2U1-AS1, SGMS2 (CYP2U1 and SGMS2 antisense RNA 1| sphingomyelin synthase 2) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia