| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Exostoses Multiple Type 1 (EXT1) | Cartilage-capped exostoses formation | Autosomal Dominant | 8q24.1 | Insertion | EXT1 | 1664_1665InsA | Frame shift mutation & PTC | 0/Faiyaz-Ul-Haque et al., 2004 | |
| Exostoses Multiple Type 1 (EXT1) | Cartilage-capped exostoses formation | Autosomal Dominant | 8q24.1 | Splice site | EXT1 | AGAAgtaag > AGAActaag | Frame shift mutation & PTC | 0/Faiyaz-Ul-Haque et al., 2004 | |
| Hereditary multiple exostoses (HME) | Exostoses, multiple, type 1 | Autosomal Dominant | 8q24.11 | c.247Cdel | p.R83GfsX52 | Frameshift and Premature stop codon | Ajmal et al., 2022/2022 |
