| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| UGT1A1 | Crigler?Najjar,Gilbert syndrome | Autosomal Recessive | 2q37.1 | Missense | UGT1A1 | 689A>G | Lys230Cys | Amino Acid Substitution | Khan et al., 2013/2013 |
