| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC130009528, LOC130009529 +620 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00434, LINC00437 +735 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009641, LOC130009642 +141 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
| | | Single nucleotide variant | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (splice acceptor variant +2 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (nonsense) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +3 more | |
| | | Deletion (frameshift variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (missense variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Duplication (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Microsatellite (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Deletion (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more | |
| | | Deletion (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |
| | | Duplication (non-coding transcript variant +1 more) | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | |