A variant affecting Chromosome 6, within the gene TFAP2A-AS2, TFAP2A, LOC121740638 (TFAP2A antisense RNA 2| transcription factor AP-2 alpha| BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Branchiooculofacial syndrome