| Gene | Description | Location | Gene Omim Number | Disease Omim Number |
| CFTR | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | 7q31.2 | 602421 | 602421 |
| FGFR3 | FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 | 4p16.3 | 134934 | 134934 |
| FMR1 | FMRP TRANSLATIONAL REGULATOR 1; FMR1 | Xq27.3 | 309550 | 309550 |
| GJB2 | GAP JUNCTION PROTEIN, BETA-2; GJB2 | 13q11-q12 | 121011 | 121011 |
| HBA1 | HEMOGLOBIN--ALPHA LOCUS 1; HBA1 | 16pter-p13.3 | 141800 | 141800 |
| HD | HUNTINGTON DISEASE; HD | 4p16.3 | 143100 | 143100 |
| HFE | HOMEOSTATIC IRON REGULATOR; HFE | 6p22.2 | 613609 | 613609 |
| MTHFR | 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | 1p36.3 | 607093 | 607093 |