| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Tyrosinemia type 1 (HT1, FAH) | Inborn error of tyrosine catabolism | Autosomal Recessive | 15q25.1 | FAH | 192G>T | 0/Ijaz et al., 2016 | |||
| Tyrosinemia type 1 (HT1, FAH) | Inborn error of tyrosine catabolism | Autosomal Recessive | 15q25.1 | Splice site | FAH | 1062+5G>A | IVS12+5G>A | 0/Ijaz et al., 2016 | |
| Tyrosinemia type 1 (HT1, FAH) | Inborn error of tyrosine catabolism | Autosomal Recessive | 15q25.1 | Missense | FAH | 67T>C | Ser23Pro | Amino Acid Substitution | 0/Ijaz et al., 2016 |
