This variant lies on Chromosome 19 and affects the gene TMEM147, TMEM147-AS1 (transmembrane protein 147| TMEM147 antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly