| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130008616, LOC130008617 +712 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Duplication (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Duplication (3 prime UTR variant) | Histidinemia | |
| | | Duplication (3 prime UTR variant) | Histidinemia | |
| | | Deletion (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | HAL-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Histidinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Histidinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Histidinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | HAL-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Histidinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Histidinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | HAL-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Histidinemia | |
| | | Single nucleotide variant (intron variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | HAL-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | HAL-related condition +1 more | |
| | | Single nucleotide variant (splice donor variant) | Histidinemia +1 more | GUncertain significance; association |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | HAL, LOC128772385 (H377Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | HAL-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (nonsense) | Increased histidine | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | HAL-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Histidinemia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Histidinemia | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | HAL-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Histidinemia | |