| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | LOC130062386, LOC130062387 +378 more | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01902, LINC01903 +1005 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC110120900, LOC110120940 +99 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Deletion (frameshift variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (intron variant) | Xanthinuria type II +1 more | |
| | | Duplication (intron variant) | Xanthinuria type II | |
| | | 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) | not provided | |
| | | Deletion (intron variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (splice donor variant) | Xanthinuria type II | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 (splice acceptor variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense 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) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II | |
| | | Single nucleotide variant (synonymous variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |
| | | Deletion (nonsense) | MOCOS-related condition | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II +1 more | |
| | | Single nucleotide variant (missense variant) | Xanthinuria type II | |