A variant was discovered in gene LOC112872301, PLXND1 (H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129277154-129278043| plexin D1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Congenital heart defects, multiple types, 9