| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002822, LOC130002823 +160 more | Copy number loss | See cases | |
| | | Single nucleotide variant | Citrullinemia type I | |
| | | Insertion (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Duplication (5 prime UTR variant) | Citrullinemia type I | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia type I | |
| | | Indel (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Citrullinemia type I | |
| | | Deletion | Citrullinemia type I +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Citrullinemia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Citrullinemia type I | |
| | | Single nucleotide variant (missense variant +1 more) | Citrullinemia type I | |
| | | Single nucleotide variant (missense variant) | Citrullinemia | |
| | | Single nucleotide variant (missense variant) | Citrullinemia +2 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Citrullinemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (missense variant) | Citrullinemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (nonsense) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia +1 more | |
| | | Single nucleotide variant (missense variant) | Citrullinemia | |
| | | Deletion (frameshift variant) | Citrullinemia type I | |
| | | Single nucleotide variant (nonsense) | Citrullinemia type I | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (missense variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Deletion (splice donor variant) | Citrullinemia | |
| | | Single nucleotide variant (missense variant) | Citrullinemia | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia type I | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Citrullinemia type I +1 more | |
| | | 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) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |
| | | Single nucleotide variant (intron variant) | Citrullinemia +3 more | |