Gene LOC121740638, TFAP2A, TFAP2A-AS2 (BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476| transcription factor AP-2 alpha| TFAP2A antisense RNA 2) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Branchiooculofacial syndrome