| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Missense | ITGA2B | 435C>A | Asn145Lys | Amino Acid Substitution | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Nonsense | ITGA2B | 531 T>A | Cys177* | Premature Termination | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Missense | ITGA2B | 641T>G | Lys214Arg | Amino Acid Substitution | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Nonsense | ITGA2B | 1265C>T | Tyr411* | Premature Termination | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Insertion | ITGA2B | 1460 insAGGT | Ser477Glyfs*111 | Frame shift mutation & PTC | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Deletion | ITGA2B | 1608delT | Asn536Lysfs*29 | Frame shift mutation & PTC | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Missense | ITGA2B | 1684G>A | Arg551Gln | Amino Acid Substitution | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Missense | ITGA2B | 448T>G | Leu143Trp | Amino Acid Substitution | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Nonsense | ITGA2B | 793T>A | Cys258* | Premature Termination | 0/Haghighi et al., 2016 |
| Glanzmann thrombasthenia (ITGA2B) | mucocutaneous bleeding | Autosomal Recessive | 17q21.31 | Nonsense | ITGA2B | 2080C>T | Gln694* | Premature Termination | 0/Haghighi et al., 2016 |
