| | | Single nucleotide variant (intron variant) | Deficiency of guanidinoacetate methyltransferase | |
| | GAMT, LOC130062945 (M50fs) | Microsatellite (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Microsatellite (inframe_deletion) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | GAMT, LOC130062945 (S17fs) | Deletion (frameshift variant) | Deficiency of guanidinoacetate methyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | GAMT, LOC130062945 (K39fs) | Duplication (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Indel (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Duplication (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | GAMT, LOC130062945 (W20fs) | Duplication (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Deletion (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Deletion (frameshift variant) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Deficiency of guanidinoacetate methyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase +1 more | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Duplication (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | GAMT, LOC130062945 (A22fs) | Duplication (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Duplication (frameshift variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Insertion (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome +1 more | |
| | | Deletion (splice donor variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (nonsense) | Cerebral creatine deficiency syndrome +1 more | |
| | GAMT, LOC130062945 (A22fs) | Deletion (frameshift variant) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Deficiency of guanidinoacetate methyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of guanidinoacetate methyltransferase +1 more | |
| | | Duplication (splice acceptor variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Duplication (frameshift variant) | Cerebral creatine deficiency syndrome +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebral creatine deficiency syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome +1 more | |
| | GAMT, LOC130062945 (D31fs) | Insertion (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of guanidinoacetate methyltransferase +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of guanidinoacetate methyltransferase +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of guanidinoacetate methyltransferase +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (3 prime UTR variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral creatine deficiency syndrome | |
| | | Single nucleotide variant (intron variant) | Cerebral creatine deficiency syndrome | |
| | GAMT, LOC130062945 (G13fs) | Duplication (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (missense variant) | Cerebral creatine deficiency syndrome | |
| | | Microsatellite (frameshift variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Deletion (frameshift variant) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebral creatine deficiency syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cerebral creatine deficiency syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Deficiency of guanidinoacetate methyltransferase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of guanidinoacetate methyltransferase | |