| | ARG1, MED23 (V305I +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ARG1, MED23 (D181fs +1 more) | Microsatellite (frameshift variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (I174V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ARG1, MED23 (G106R +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 18 | |
| | | Duplication (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | ARG1, MED23 (V301L +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | ARG1, MED23 (T303K +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Microsatellite (intron variant) | Arginase deficiency | |
| | MED23, ARG1 (V173fs +1 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | ARG1, MED23 (Y169H +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | | Deletion (nonsense +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | ARG1, MED23 (S117fs +1 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (G162fs +1 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (R230G +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (nonsense +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Duplication (splice acceptor variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Deletion (splice donor variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginase deficiency | |
| | | Deletion (intron variant) | Arginase deficiency | |
| | ARG1, MED23 (F155fs +1 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (E192fs +2 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Arginase deficiency | |
| | ARG1, MED23 (D152fs +2 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | ARG1, MED23 (D149H +2 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (E117fs +2 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (I142fs +2 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (D117fs +1 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Arginase deficiency | |
| | ARG1, MED23 (G107fs +1 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Arginase deficiency | |
| | ARG1, MED23 (M127fs +2 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (E78fs +1 more) | Duplication (frameshift variant +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Arginase deficiency | |
| | | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (G187fs +2 more) | Deletion (frameshift variant +2 more) | Arginase deficiency | |
| | MED23, ARG1 (A125V +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (W164* +1 more) | Single nucleotide variant (nonsense +2 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 18 | |
| | | Duplication | Arginase deficiency | |
| | | Deletion | Arginase deficiency | |
| | ARG1, MED23 (I105T +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |
| | ARG1, MED23 (I169V +1 more) | Single nucleotide variant (missense variant +2 more) | Arginase deficiency | |