A variant was discovered on Chromosome 6, affecting TFAP2A-AS2, TFAP2A, LOC121740638 (TFAP2A antisense RNA 2| transcription factor AP-2 alpha| BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Branchiooculofacial syndrome