| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Xanthinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Microsatellite (3 prime UTR variant) | Xanthinuria | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (intron variant) | Xanthinuria type II | |
| | | Duplication (frameshift variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Xanthinuria type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (intron variant) | XDH-related disorder | |
| | | Single nucleotide variant (intron variant) | Xanthinuria type II | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Xanthinuria type II | |
| | | Single nucleotide variant (intron variant) | Xanthinuria type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary xanthinuria type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 +1 more | |
| | | Deletion (frameshift variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary xanthinuria type 1 | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |