| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Biotinidase Deficiency (BTD) | Biotinidase deficiency | Autosomal Recessive | 3p25.1 | Deletion Insertion | BTD | c.98_104delinsTCC | p.Cys33Phefs | Frameshift | Moatter et al, 2023/2023 |
| Biotinidase Deficiency (BTD) | Biotinidase deficiency | Autosomal Recessive | 3p25.1 | Substitution | BTD | c.1612C>A | p.Arg538Ser | Missense | Moatter et al, 2023/2023 |
| Biotinidase Deficiency (BTD) | Biotinidase deficiency | Autosomal Recessive | 3p25.1 | Substitution | BTD | c.1330G>C | p.Asp444His | Missense | Moatter et al, 2023/2023 |
