A variant was discovered in gene CYP2U1-AS1, SGMS2 (CYP2U1 and SGMS2 antisense RNA 1| sphingomyelin synthase 2), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia