Mutation context: Chromosome 11, Gene DPAGT1, LOC126861360 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1| BRD4-independent group 4 enhancer GRCh37_chr11:118972216-118973415). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; DPAGT1-congenital disorder of glycosylation