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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 1-BP DEL, 525T | 0014 | GLYCOGEN STORAGE DISEASE TYPE II | 9 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 1195-8G>A | | GLYCOGEN STORAGE DISEASE TYPE II | 3 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 1441delT | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 1456_1468del13 | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 2243insG | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 251insC | | GLYCOGEN STORAGE DISEASE TYPE II | 2 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 2815_2816delGT | | GLYCOGEN STORAGE DISEASE TYPE II | 2 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | 366delT | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ARG190HIS | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ARG224TRP | | GLYCOGEN STORAGE DISEASE TYPE II | 2 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ARG594PRO | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ARG660HIS | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ARG854TER | 0015 | GLYCOGEN STORAGE DISEASE TYPE II | 9 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ASN520SER | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ASN536del | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ASP645ASN | | GLYCOGEN STORAGE DISEASE TYPE II | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | ASP645GLU | 0010 | GLYCOGEN STORAGE DISEASE TYPE II, INFANTILE FORM | 1 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | CYS647TRP | | GLYCOGEN STORAGE DISEASE TYPE II | 2 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | EX18DEL | 0012 | GLYCOGEN STORAGE DISEASE TYPE II | 7 |
| GAA | 606800 | 232300 | 17q25.2-q25.3 | GLN58TER | | GLYCOGEN STORAGE DISEASE TYPE II | 2 |