| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |
| | LOC124958010, LOC124958011 +529 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (inframe_insertion) | not specified | |
| | | Deletion | Lysinuric protein intolerance | |
| | | Duplication (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | Autoinflammatory syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | LOC130055319, LOC130055320 +5 more | Deletion | Lysinuric protein intolerance | |
| | | Deletion | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Microsatellite (frameshift variant) | not specified | |
| | | Deletion | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance +2 more | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Deletion (frameshift variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance +1 more | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (nonsense) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Deletion (frameshift variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Microsatellite (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Duplication (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Deletion (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (intron variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (splice donor variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (splice donor variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (nonsense) | Lysinuric protein intolerance +1 more | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (synonymous variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (nonsense) | Lysinuric protein intolerance +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Lysinuric protein intolerance | |
| | | Single nucleotide variant (missense variant) | Lysinuric protein intolerance +2 more | |