| | | Deletion | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | GATM, LOC130056991 (V17fs) | Duplication (frameshift variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Fanconi renotubular syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Arginine:glycine amidinotransferase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | |
| | | Microsatellite (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | 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 (5 prime UTR variant +1 more) | GATM-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (intron variant +1 more) | Arginine:glycine amidinotransferase deficiency | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fanconi renotubular syndrome 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Arginine:glycine amidinotransferase deficiency +1 more | |