| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | T-substance anomaly +3 more | |
| | | Single nucleotide variant (missense variant) | Tyrosinemia type II | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC111413029, TAT
+1 more (R228P) | Single nucleotide variant (non-coding transcript variant +1 more) | Tyrosinemia type II | |
Click to view in NCBI Gene