| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 131C>G | Ala44Gly | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 392G>T | Gly131Val | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 563C>T | Ser188Phe | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 871G>A | Val291Met | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 1003A>G | Ala335Thr | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 1024C>T | Leu342Phe | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 1376G>C | Arg459Pro | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 1376G>T | Arg459Leu | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Red cell enzymopathies | X-Linked | Xq28 | Missense | G6PD | 1388G>A | Arg463His | Amino Acid Substitution | 0/Moiz et al., 2011 |
| Glucose-6-phosphate D deficiency (G6PD) | Neonatal Hyperbilirubinemia | X-Linked | Xq28 | Missense | G6PD | 563C>T | Ser188Phe | Amino Acid Substitution | 0/Moiz et al., 2012 |
