| | LOC123775388, LOC123775389 +1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Interstitial 6q microdeletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Arginase deficiency | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Deletion (frameshift variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency +1 more | |
| | | Deletion (frameshift variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Deletion (splice donor variant) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Arginase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Duplication (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | | Deletion | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Duplication (frameshift variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Deletion (intron variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Deletion (frameshift variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Insertion (splice donor variant +1 more) | Arginase deficiency | |
| | | Deletion (inframe deletion +1 more) | Arginase deficiency | |
| | | Insertion (frameshift variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Deletion (frameshift variant +1 more) | ARG1-related condition +1 more | GPathogenic/Likely pathogenic |
| | MED23, ARG1 (E44Q +1 more) | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | | Duplication (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |