| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (splice acceptor variant) | Tyrosinemia type I | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | FAH, LOC112272621 (S109fs) | Deletion (frameshift variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (nonsense) | Tyrosinemia type I | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (missense variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (missense variant) | Tyrosinemia type I | |
| | FAH, LOC112272621 (A119fs) | Deletion (frameshift variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (synonymous variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (synonymous variant) | FAH-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (splice donor variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | Tyrosinemia type I | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |