| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR3621, MIR3689A +789 more | 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) | Citrullinemia type I +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 | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | 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) | Citrullinemia type I +3 more | GConflicting classifications of pathogenicity |
| | | 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 | GConflicting classifications of pathogenicity |
| | | 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) | not specified +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) | Citrullinemia +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 | |
| | | Single nucleotide variant (intron variant) | Citrullinemia | |