Given a variant located on Chromosome 3 and affecting LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome