Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
NAGLU | 609701 | 252920 | 17q21 | ARG297TER | 0003 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |
NAGLU | 609701 | 252920 | 17q21 | ARG626TER | 0002 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |
NAGLU | 609701 | 252920 | 17q21 | ARG643HIS | 0004 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |
NAGLU | 609701 | 252920 | 17q21 | GLU153LYS | | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |
NAGLU | 609701 | 252920 | 17q21 | LEU682ARG | | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |
NAGLU | 609701 | 252920 | 17q21 | PRO358LEU | | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |
NAGLU | 609701 | 252920 | 17q21 | TYR140CYS | | MUCOPOLYSACCHARIDOSIS TYPE IIIB | 1 |